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Can a repurposed Parkinson’s drug slow ALS progression?
Ropinirole, a drug used for Parkinson’s disease, shows promise in slowing the progression of amyotrophic lateral sclerosis (ALS), early research suggests.
Investigators randomly assigned 20 individuals with sporadic ALS to receive either ropinirole or placebo for 24 weeks. During the double-blind period, there was no difference between the groups in terms of decline in functional status.
However, during a further open-label extension period, the ropinirole group showed significant suppression of functional decline and an average of an additional 7 months of progression-free survival.
The researchers were able to predict clinical responsiveness to ropinirole in vitro by analyzing motor neurons derived from participants’ stem cells.
The study was published online in Cell Stem Cell (2023 Jun 1. doi: 10.1016/j.stem.2023.04.017).
The trial was sponsored by K Pharma. The study drug, active drugs, and placebo were supplied free of charge by GlaxoSmithKline.
West Nile infections rising in the U.S.
Several signs are pointing to an impending surge in the number of human cases of West Nile virus in several regions of the United States. West Nile virus is spread by infected mosquitoes and currently there is no cure or virus-specific treatment. In rare cases, it can be deadly. It can infect humans, birds, horses, and other mammals.
West Nile Virus is the leading cause of mosquito-borne disease in the continental United States. As of Aug. 8, 126 human cases had been identified across 22 states, according to the Centers for Disease Control and Prevention.
“Particularly here in California, it’s peak risk right now,” said Vicki Kramer, PhD, chief of vector-borne diseases in the California Department of Public Health. She said scientists there are seeing higher mosquito and infected mosquito numbers.
Dead birds are tested for the virus and by Aug. 4, 181 of the 913 birds tested in California have been positive, three times the total testing positive by that time in 2022.
“Last year at this time, we had 60 positive dead birds out of 817 tested,” Dr. Kramer said.
Myasthenia gravis drug gets FDA nod
The Food and Drug Administration (FDA) has approved rozanolixizumab (Rystiggo, UCB) to treat adults with generalized myasthenia gravis (gMG) who are positive for anti-acetylcholine receptor (AChR) or anti–muscle-specific tyrosine kinase (MuSK) antibody, the drug’s manufacturer, UCB, has announced.
gMG is a rare autoimmune disease of the nerve muscle junction. Anti-AChR and anti-MuSK antibody-positive gMG are the two most common subtypes. Rozanolixizumab is the first FDA-approved treatment for adults with both subtypes.
Rozanolixizumab is a subcutaneous-infused humanized IgG4 monoclonal antibody that binds to the neonatal Fc
receptor (FcRn), reducing the concentration of pathogenic IgG autoantibodies.
U.S. approval is based on results of the phase 3
MycarinG study involving 200 patients with AChR or MuSK autoantibody-positive gMG. Patients were randomly assigned to one of two rozanolixizumab groups (7 mg/kg or 10 mg/kg) or placebo for 6 weeks.
As reported in The Lancet Neurology (2023 May. doi: 10.1016/S1474-4422[23]00077-7), rozanolixizumab led to statistically significant improvements in gMG-specific outcomes, including everyday activities such as breathing, talking, swallowing, and being able to rise from a chair.
Gene therapy promising for reversal of hereditary vision loss
An unapproved gene therapy for Leber hereditary optic neuropathy (LHON) led to a marked improvement in the eyesight of patients with a severe, progressive form of the disease who received the therapy as part of an early access program.
Results of a study of more than 60 patients who received lenadogene nolparvovec (Lumevoq, GenSight Biologics) as a unilateral or bilateral intravitreal injection showed that, at 2-year follow-up, 60% had experienced a clinically relevant improvement in the number of letters they could read on a visual acuity chart.
The results, said study presenter Chiara La Morgia, MD, PhD, IRCCS Istituto delle Scienze Neurologiche di Bologna (Italy), confirm in a “real-life setting” the efficacy and safety of the treatment as previously shown in clinical trials.
The findings were presented at the 2023 Congress of the European Academy of Neurology.
No funding was declared. Dr. La Morgia has relationships with Chiesi Farmaceutici, GenSight Biologics, Regulatory Pharma Net, Thenewway, Santhera Pharmaceuticals, First Class, Biologix, Stoke Therapeutics, and Reneo.
FDA OKs new drug for Fabry disease
The FDA has approved pegunigalsidase alfa (Elfabrio, Chiesi Global Rare Diseases/Protalix BioTherapeutics), an enzyme replacement therapy (ERT) to treat adults with Fabry disease.
Fabry disease is a rare inherited X-linked lysosomal disorder caused by a deficiency of the enzyme alpha-galactosidase A (GLA), which leads to the buildup of globotriaosylceramide (GL-3) in blood vessels, kidneys, heart, nerves, and other organs, increasing the risk for kidney failure, myocardial infarction, stroke, and other problems.
Elfabrio delivers a functional version of GLA. It is given by intravenous infusion every 2 weeks.
Evidence for safety, tolerability, and efficacy of Elfabrio stem from a comprehensive clinical program in more than 140 patients with up to 7.5 years of follow-up treatment.
It has been studied in both ERT-naive and ERT-experienced patients. In one head-to-head trial, Elfabrio was noninferior in safety and efficacy to agalsidase beta (Fabrazyme, Sanofi Genzyme), the companies said in a press statement announcing approval.
U.S. incidence, prevalence of myasthenia gravis are rising
There has been an increase in the incidence and prevalence of myasthenia gravis in the United States, an analysis of new claims data shows. Investigators speculate the rise of this rare disorder may be caused by “increased diagnosis and more awareness of the disease over time, which has been shown in several studies,” said study investigator Ema Rodrigues, DSc, MPH, with Alexion Pharmaceuticals, Boston.
Dr. Rodrigues presented her research at the 2023 annual meeting of the American Academy of Neurology.
Funding for the study was provided by Alexion, AstraZeneca Rare
Disease. Dr. Rodrigues receives compensation and owns stock as an employee of Alexion, AstraZeneca Rare Diseases.
Novel agent offers hope for hereditary ATTR polyneuropathy in pivotal trial
The investigational agent eplontersen (Ionis Pharmaceuticals/AstraZeneca) halted neuropathy disease progression and improved neuropathy impairment and quality of life for patients with hereditary transthyretin-mediated amyloid polyneuropathy (ATTRv-PN) in a pivotal phase 3 trial.
Eplontersen led to “clinically and statistically significant benefits at week 66 with an early and rapid sustained reduction in serum TTR [transthyretin] concentration, a halting of the progression of the neuropathy impairment, and a trend to improvement in quality of life,” said principal investigator Sami Khella, MD, professor of clinical neurology at the University of Pennsylvania, Philadelphia.
Dr. Khella reported final data from the NEURO-TTRansform trial at the annual meeting of the American Academy of Neurology.
The FDA has accepted a new drug application for eplontersen for the treatment of ATTRv-PN. The drug has a Prescription Drug User Fee Act date of Dec. 22, 2023. Eplontersen has orphan drug designation in the United States.
The study was sponsored by Ionis Pharmaceuticals. Dr. Khella has relationships with Ionis, Pfizer, Alnylam, and Eidos.
FDA gives fast-track approval to new ALS drug
The FDA has approved the first treatment that takes a genetics-based approach to slowing or stopping the progression of a rare form of amyotrophic lateral sclerosis (ALS).
The FDA fast-tracked the approval of Qalsody (Biogen) based on early trial results. The agency said in a news release that its decision was based on the demonstrated ability of the drug to reduce a protein in the blood that is a sign of degeneration of brain and nerve cells.
Qalsody is given to people via a spinal injection, with an initial course of three injections every 2 weeks. People then get the injection once every 28 days.
The new treatment is approved only for people with SOD1-ALS, which is known for a genetic mutation. While ALS affects up to 32,000 people in the United States, just 2% of people with ALS have the SOD1 gene mutation. The FDA says the number of people in the United States who could use Qalsody is about 500.
FDA OKs first treatment for Friedreich ataxia
The FDA has approved the first treatment for the neurodegenerative disorder Friedreich ataxia for use in adults and adolescents aged 16 and older.
The recommended dose of omaveloxolone (Skyclarys, Reata Pharmaceuticals) is 150 mg (three capsules) taken orally once daily on an empty stomach.
The FDA approval of omaveloxolone was supported by a randomized double-blind, placebo-controlled study comprising 103 patients with genetically confirmed Friedreich ataxia and baseline modified Friedreich Ataxia Rating Scale (mFARS) scores between 20 and 80.
Treatment with the novel medication led to statistically significant lower mFARS scores, signifying less impairment, relative to placebo, at week 48. The placebo-corrected difference between the two groups was –2.41 points (P = .0138).
Omaveloxolone received priority review and had orphan drug, fast track, and rare pediatric disease designations.
FDA OKs first drug for Rett syndrome
The FDA has approved trofinetide oral solution (Daybue, Acadia Pharmaceuticals) as the first treatment of Rett syndrome in adults and children aged 2 years and older.
Trofinetide is a synthetic analogue of the amino-terminal tripeptide of insulinlike growth factor-1, which occurs naturally in the brain. The drug is designed to treat the core symptoms of Rett syndrome by potentially reducing neuroinflammation and supporting synaptic function.
The approval of trofinetide was supported by results from the pivotal phase 3 LAVENDER study that tested the efficacy and safety of trofinetide versus placebo in 187 female patients with Rett syndrome, aged 5-20 years.
More data back Guillain-Barré risk with Janssen COVID shot
New surveillance data from the Vaccine Adverse Event Reporting System (VAERS) back previous findings of increased risk for Guillain-Barré syndrome (GBS) after receiving the Janssen COVID-19 vaccine (Ad26.COV2.S).
Over 14 months, GBS reporting rates within 21 and 42 days of administration of Janssen’s replication-incompetent adenoviral vector vaccine were approximately 9-12 times higher than after administration of the Pfizer-BioNTech (BNT162b2) or the Moderna (mRNA-1273) mRNA COVID vaccines.
Additionally, observed GBS cases after the Janssen shot were two to three times greater than expected, based on background rates within 21 and 42 days of vaccination.
Conversely, and confirming prior data, there was no increased risk for GBS with the Pfizer or Moderna vaccines and no significant difference between observed and expected numbers of GBS cases after either mRNA COVID-19 vaccine.
The findings were published online in JAMA Network Open (2023 Feb 1. doi: 10.1001/jamanetworkopen.2022.53845).
Diazepam nasal spray effective in Lennox-Gastaut syndrome
A new analysis of data from a phase 3 clinical trial suggests that an inhaled diazepam nasal spray (Valtoco, Neurelis) works about as well among patients with Lennox-Gastaut syndrome (LGS) as it does with other patients with pediatric encephalopathies.
LGS is a severe form of epilepsy that generally begins in early childhood and has a poor prognosis and seizures that are often treatment refractory. The findings of the analysis should be encouraging to physicians who may view patients with LGS as not benefiting from treatment, said Daniel C. Tarquinio, DO, who presented the results at the 2022 annual meeting of the Child Neurology Society.
Novel cannabis oil curbs tics in severe Tourette syndrome
An oral oil containing tetrahydrocannabinol (THC) and cannabidiol (CBD) led to a significant and meaningful reduction in motor and vocal tics in patients with severe Tourette syndrome, results of a double-blind, placebo-controlled, crossover study showed.
“In a methodologically robust manner (and independent of any drug company sponsorship), we provide evidence for the effectiveness of repeated dosing with THC:CBD versus placebo in tic
suppression, as well as reduction of comorbid anxiety and obsessive-compulsive disorder in severe Tourette syndrome,” neuropsychiatrist and lead investigator Philip Mosley, PhD, said in an interview.
The results offer support to people with Tourette syndrome who “want to approach their doctor to try medicinal cannabis when other drugs have not worked or are intolerable,” said
Dr. Mosley, of the Wesley Research Institute and QIMR Berghofer Medical Research Institute, Herston, Australia.
The study was published online in NEJM Evidence (2023 Jun 7. doi: 10.1056/EVIDoa2300012).
Twenty-two adults (mean age, 31 years) with severe Tourette syndrome received THC:CBD oil titrated upward over 6 weeks to a daily dose of 20 mg of THC and 20 mg of CBD, followed by a 6-week course of placebo (or vice versa). Six participants had not previously used cannabis.
The primary outcome was the total tic score on the Yale Global Tic Severity Scale (YGTSS; range, 0-50 with higher scores = greater tic severity).
The mean baseline YGTSS total tic score was 35.7. At 6 weeks, the reduction in total tic score was 8.9 with THC:CBD versus 2.5 with placebo.
A linear mixed-effects model (intention to treat) showed a significant interaction of treatment and visit number (P = .008), indicating a greater decrease (improvement) in tic score over time with THC:CBD, the study team reported.
On average, the magnitude of the tic reduction was “moderate” and comparable with the effect observed with existing treatments such as antipsychotic agents, the investigators noted.
The study was funded by the Wesley Medical Research Institute, Brisbane, and the Lambert Initiative for Cannabinoid Therapeutics, a philanthropically funded research organization at the University of Sydney, Australia.
Dr. Mosley reported no relevant financial relationships.
Can a repurposed Parkinson’s drug slow ALS progression?
Ropinirole, a drug used for Parkinson’s disease, shows promise in slowing the progression of amyotrophic lateral sclerosis (ALS), early research suggests.
Investigators randomly assigned 20 individuals with sporadic ALS to receive either ropinirole or placebo for 24 weeks. During the double-blind period, there was no difference between the groups in terms of decline in functional status.
However, during a further open-label extension period, the ropinirole group showed significant suppression of functional decline and an average of an additional 7 months of progression-free survival.
The researchers were able to predict clinical responsiveness to ropinirole in vitro by analyzing motor neurons derived from participants’ stem cells.
The study was published online in Cell Stem Cell (2023 Jun 1. doi: 10.1016/j.stem.2023.04.017).
The trial was sponsored by K Pharma. The study drug, active drugs, and placebo were supplied free of charge by GlaxoSmithKline.
West Nile infections rising in the U.S.
Several signs are pointing to an impending surge in the number of human cases of West Nile virus in several regions of the United States. West Nile virus is spread by infected mosquitoes and currently there is no cure or virus-specific treatment. In rare cases, it can be deadly. It can infect humans, birds, horses, and other mammals.
West Nile Virus is the leading cause of mosquito-borne disease in the continental United States. As of Aug. 8, 126 human cases had been identified across 22 states, according to the Centers for Disease Control and Prevention.
“Particularly here in California, it’s peak risk right now,” said Vicki Kramer, PhD, chief of vector-borne diseases in the California Department of Public Health. She said scientists there are seeing higher mosquito and infected mosquito numbers.
Dead birds are tested for the virus and by Aug. 4, 181 of the 913 birds tested in California have been positive, three times the total testing positive by that time in 2022.
“Last year at this time, we had 60 positive dead birds out of 817 tested,” Dr. Kramer said.
Myasthenia gravis drug gets FDA nod
The Food and Drug Administration (FDA) has approved rozanolixizumab (Rystiggo, UCB) to treat adults with generalized myasthenia gravis (gMG) who are positive for anti-acetylcholine receptor (AChR) or anti–muscle-specific tyrosine kinase (MuSK) antibody, the drug’s manufacturer, UCB, has announced.
gMG is a rare autoimmune disease of the nerve muscle junction. Anti-AChR and anti-MuSK antibody-positive gMG are the two most common subtypes. Rozanolixizumab is the first FDA-approved treatment for adults with both subtypes.
Rozanolixizumab is a subcutaneous-infused humanized IgG4 monoclonal antibody that binds to the neonatal Fc
receptor (FcRn), reducing the concentration of pathogenic IgG autoantibodies.
U.S. approval is based on results of the phase 3
MycarinG study involving 200 patients with AChR or MuSK autoantibody-positive gMG. Patients were randomly assigned to one of two rozanolixizumab groups (7 mg/kg or 10 mg/kg) or placebo for 6 weeks.
As reported in The Lancet Neurology (2023 May. doi: 10.1016/S1474-4422[23]00077-7), rozanolixizumab led to statistically significant improvements in gMG-specific outcomes, including everyday activities such as breathing, talking, swallowing, and being able to rise from a chair.
Gene therapy promising for reversal of hereditary vision loss
An unapproved gene therapy for Leber hereditary optic neuropathy (LHON) led to a marked improvement in the eyesight of patients with a severe, progressive form of the disease who received the therapy as part of an early access program.
Results of a study of more than 60 patients who received lenadogene nolparvovec (Lumevoq, GenSight Biologics) as a unilateral or bilateral intravitreal injection showed that, at 2-year follow-up, 60% had experienced a clinically relevant improvement in the number of letters they could read on a visual acuity chart.
The results, said study presenter Chiara La Morgia, MD, PhD, IRCCS Istituto delle Scienze Neurologiche di Bologna (Italy), confirm in a “real-life setting” the efficacy and safety of the treatment as previously shown in clinical trials.
The findings were presented at the 2023 Congress of the European Academy of Neurology.
No funding was declared. Dr. La Morgia has relationships with Chiesi Farmaceutici, GenSight Biologics, Regulatory Pharma Net, Thenewway, Santhera Pharmaceuticals, First Class, Biologix, Stoke Therapeutics, and Reneo.
FDA OKs new drug for Fabry disease
The FDA has approved pegunigalsidase alfa (Elfabrio, Chiesi Global Rare Diseases/Protalix BioTherapeutics), an enzyme replacement therapy (ERT) to treat adults with Fabry disease.
Fabry disease is a rare inherited X-linked lysosomal disorder caused by a deficiency of the enzyme alpha-galactosidase A (GLA), which leads to the buildup of globotriaosylceramide (GL-3) in blood vessels, kidneys, heart, nerves, and other organs, increasing the risk for kidney failure, myocardial infarction, stroke, and other problems.
Elfabrio delivers a functional version of GLA. It is given by intravenous infusion every 2 weeks.
Evidence for safety, tolerability, and efficacy of Elfabrio stem from a comprehensive clinical program in more than 140 patients with up to 7.5 years of follow-up treatment.
It has been studied in both ERT-naive and ERT-experienced patients. In one head-to-head trial, Elfabrio was noninferior in safety and efficacy to agalsidase beta (Fabrazyme, Sanofi Genzyme), the companies said in a press statement announcing approval.
U.S. incidence, prevalence of myasthenia gravis are rising
There has been an increase in the incidence and prevalence of myasthenia gravis in the United States, an analysis of new claims data shows. Investigators speculate the rise of this rare disorder may be caused by “increased diagnosis and more awareness of the disease over time, which has been shown in several studies,” said study investigator Ema Rodrigues, DSc, MPH, with Alexion Pharmaceuticals, Boston.
Dr. Rodrigues presented her research at the 2023 annual meeting of the American Academy of Neurology.
Funding for the study was provided by Alexion, AstraZeneca Rare
Disease. Dr. Rodrigues receives compensation and owns stock as an employee of Alexion, AstraZeneca Rare Diseases.
Novel agent offers hope for hereditary ATTR polyneuropathy in pivotal trial
The investigational agent eplontersen (Ionis Pharmaceuticals/AstraZeneca) halted neuropathy disease progression and improved neuropathy impairment and quality of life for patients with hereditary transthyretin-mediated amyloid polyneuropathy (ATTRv-PN) in a pivotal phase 3 trial.
Eplontersen led to “clinically and statistically significant benefits at week 66 with an early and rapid sustained reduction in serum TTR [transthyretin] concentration, a halting of the progression of the neuropathy impairment, and a trend to improvement in quality of life,” said principal investigator Sami Khella, MD, professor of clinical neurology at the University of Pennsylvania, Philadelphia.
Dr. Khella reported final data from the NEURO-TTRansform trial at the annual meeting of the American Academy of Neurology.
The FDA has accepted a new drug application for eplontersen for the treatment of ATTRv-PN. The drug has a Prescription Drug User Fee Act date of Dec. 22, 2023. Eplontersen has orphan drug designation in the United States.
The study was sponsored by Ionis Pharmaceuticals. Dr. Khella has relationships with Ionis, Pfizer, Alnylam, and Eidos.
FDA gives fast-track approval to new ALS drug
The FDA has approved the first treatment that takes a genetics-based approach to slowing or stopping the progression of a rare form of amyotrophic lateral sclerosis (ALS).
The FDA fast-tracked the approval of Qalsody (Biogen) based on early trial results. The agency said in a news release that its decision was based on the demonstrated ability of the drug to reduce a protein in the blood that is a sign of degeneration of brain and nerve cells.
Qalsody is given to people via a spinal injection, with an initial course of three injections every 2 weeks. People then get the injection once every 28 days.
The new treatment is approved only for people with SOD1-ALS, which is known for a genetic mutation. While ALS affects up to 32,000 people in the United States, just 2% of people with ALS have the SOD1 gene mutation. The FDA says the number of people in the United States who could use Qalsody is about 500.
FDA OKs first treatment for Friedreich ataxia
The FDA has approved the first treatment for the neurodegenerative disorder Friedreich ataxia for use in adults and adolescents aged 16 and older.
The recommended dose of omaveloxolone (Skyclarys, Reata Pharmaceuticals) is 150 mg (three capsules) taken orally once daily on an empty stomach.
The FDA approval of omaveloxolone was supported by a randomized double-blind, placebo-controlled study comprising 103 patients with genetically confirmed Friedreich ataxia and baseline modified Friedreich Ataxia Rating Scale (mFARS) scores between 20 and 80.
Treatment with the novel medication led to statistically significant lower mFARS scores, signifying less impairment, relative to placebo, at week 48. The placebo-corrected difference between the two groups was –2.41 points (P = .0138).
Omaveloxolone received priority review and had orphan drug, fast track, and rare pediatric disease designations.
FDA OKs first drug for Rett syndrome
The FDA has approved trofinetide oral solution (Daybue, Acadia Pharmaceuticals) as the first treatment of Rett syndrome in adults and children aged 2 years and older.
Trofinetide is a synthetic analogue of the amino-terminal tripeptide of insulinlike growth factor-1, which occurs naturally in the brain. The drug is designed to treat the core symptoms of Rett syndrome by potentially reducing neuroinflammation and supporting synaptic function.
The approval of trofinetide was supported by results from the pivotal phase 3 LAVENDER study that tested the efficacy and safety of trofinetide versus placebo in 187 female patients with Rett syndrome, aged 5-20 years.
More data back Guillain-Barré risk with Janssen COVID shot
New surveillance data from the Vaccine Adverse Event Reporting System (VAERS) back previous findings of increased risk for Guillain-Barré syndrome (GBS) after receiving the Janssen COVID-19 vaccine (Ad26.COV2.S).
Over 14 months, GBS reporting rates within 21 and 42 days of administration of Janssen’s replication-incompetent adenoviral vector vaccine were approximately 9-12 times higher than after administration of the Pfizer-BioNTech (BNT162b2) or the Moderna (mRNA-1273) mRNA COVID vaccines.
Additionally, observed GBS cases after the Janssen shot were two to three times greater than expected, based on background rates within 21 and 42 days of vaccination.
Conversely, and confirming prior data, there was no increased risk for GBS with the Pfizer or Moderna vaccines and no significant difference between observed and expected numbers of GBS cases after either mRNA COVID-19 vaccine.
The findings were published online in JAMA Network Open (2023 Feb 1. doi: 10.1001/jamanetworkopen.2022.53845).
Diazepam nasal spray effective in Lennox-Gastaut syndrome
A new analysis of data from a phase 3 clinical trial suggests that an inhaled diazepam nasal spray (Valtoco, Neurelis) works about as well among patients with Lennox-Gastaut syndrome (LGS) as it does with other patients with pediatric encephalopathies.
LGS is a severe form of epilepsy that generally begins in early childhood and has a poor prognosis and seizures that are often treatment refractory. The findings of the analysis should be encouraging to physicians who may view patients with LGS as not benefiting from treatment, said Daniel C. Tarquinio, DO, who presented the results at the 2022 annual meeting of the Child Neurology Society.
Novel cannabis oil curbs tics in severe Tourette syndrome
An oral oil containing tetrahydrocannabinol (THC) and cannabidiol (CBD) led to a significant and meaningful reduction in motor and vocal tics in patients with severe Tourette syndrome, results of a double-blind, placebo-controlled, crossover study showed.
“In a methodologically robust manner (and independent of any drug company sponsorship), we provide evidence for the effectiveness of repeated dosing with THC:CBD versus placebo in tic
suppression, as well as reduction of comorbid anxiety and obsessive-compulsive disorder in severe Tourette syndrome,” neuropsychiatrist and lead investigator Philip Mosley, PhD, said in an interview.
The results offer support to people with Tourette syndrome who “want to approach their doctor to try medicinal cannabis when other drugs have not worked or are intolerable,” said
Dr. Mosley, of the Wesley Research Institute and QIMR Berghofer Medical Research Institute, Herston, Australia.
The study was published online in NEJM Evidence (2023 Jun 7. doi: 10.1056/EVIDoa2300012).
Twenty-two adults (mean age, 31 years) with severe Tourette syndrome received THC:CBD oil titrated upward over 6 weeks to a daily dose of 20 mg of THC and 20 mg of CBD, followed by a 6-week course of placebo (or vice versa). Six participants had not previously used cannabis.
The primary outcome was the total tic score on the Yale Global Tic Severity Scale (YGTSS; range, 0-50 with higher scores = greater tic severity).
The mean baseline YGTSS total tic score was 35.7. At 6 weeks, the reduction in total tic score was 8.9 with THC:CBD versus 2.5 with placebo.
A linear mixed-effects model (intention to treat) showed a significant interaction of treatment and visit number (P = .008), indicating a greater decrease (improvement) in tic score over time with THC:CBD, the study team reported.
On average, the magnitude of the tic reduction was “moderate” and comparable with the effect observed with existing treatments such as antipsychotic agents, the investigators noted.
The study was funded by the Wesley Medical Research Institute, Brisbane, and the Lambert Initiative for Cannabinoid Therapeutics, a philanthropically funded research organization at the University of Sydney, Australia.
Dr. Mosley reported no relevant financial relationships.
Can a repurposed Parkinson’s drug slow ALS progression?
Ropinirole, a drug used for Parkinson’s disease, shows promise in slowing the progression of amyotrophic lateral sclerosis (ALS), early research suggests.
Investigators randomly assigned 20 individuals with sporadic ALS to receive either ropinirole or placebo for 24 weeks. During the double-blind period, there was no difference between the groups in terms of decline in functional status.
However, during a further open-label extension period, the ropinirole group showed significant suppression of functional decline and an average of an additional 7 months of progression-free survival.
The researchers were able to predict clinical responsiveness to ropinirole in vitro by analyzing motor neurons derived from participants’ stem cells.
The study was published online in Cell Stem Cell (2023 Jun 1. doi: 10.1016/j.stem.2023.04.017).
The trial was sponsored by K Pharma. The study drug, active drugs, and placebo were supplied free of charge by GlaxoSmithKline.
West Nile infections rising in the U.S.
Several signs are pointing to an impending surge in the number of human cases of West Nile virus in several regions of the United States. West Nile virus is spread by infected mosquitoes and currently there is no cure or virus-specific treatment. In rare cases, it can be deadly. It can infect humans, birds, horses, and other mammals.
West Nile Virus is the leading cause of mosquito-borne disease in the continental United States. As of Aug. 8, 126 human cases had been identified across 22 states, according to the Centers for Disease Control and Prevention.
“Particularly here in California, it’s peak risk right now,” said Vicki Kramer, PhD, chief of vector-borne diseases in the California Department of Public Health. She said scientists there are seeing higher mosquito and infected mosquito numbers.
Dead birds are tested for the virus and by Aug. 4, 181 of the 913 birds tested in California have been positive, three times the total testing positive by that time in 2022.
“Last year at this time, we had 60 positive dead birds out of 817 tested,” Dr. Kramer said.
Myasthenia gravis drug gets FDA nod
The Food and Drug Administration (FDA) has approved rozanolixizumab (Rystiggo, UCB) to treat adults with generalized myasthenia gravis (gMG) who are positive for anti-acetylcholine receptor (AChR) or anti–muscle-specific tyrosine kinase (MuSK) antibody, the drug’s manufacturer, UCB, has announced.
gMG is a rare autoimmune disease of the nerve muscle junction. Anti-AChR and anti-MuSK antibody-positive gMG are the two most common subtypes. Rozanolixizumab is the first FDA-approved treatment for adults with both subtypes.
Rozanolixizumab is a subcutaneous-infused humanized IgG4 monoclonal antibody that binds to the neonatal Fc
receptor (FcRn), reducing the concentration of pathogenic IgG autoantibodies.
U.S. approval is based on results of the phase 3
MycarinG study involving 200 patients with AChR or MuSK autoantibody-positive gMG. Patients were randomly assigned to one of two rozanolixizumab groups (7 mg/kg or 10 mg/kg) or placebo for 6 weeks.
As reported in The Lancet Neurology (2023 May. doi: 10.1016/S1474-4422[23]00077-7), rozanolixizumab led to statistically significant improvements in gMG-specific outcomes, including everyday activities such as breathing, talking, swallowing, and being able to rise from a chair.
Gene therapy promising for reversal of hereditary vision loss
An unapproved gene therapy for Leber hereditary optic neuropathy (LHON) led to a marked improvement in the eyesight of patients with a severe, progressive form of the disease who received the therapy as part of an early access program.
Results of a study of more than 60 patients who received lenadogene nolparvovec (Lumevoq, GenSight Biologics) as a unilateral or bilateral intravitreal injection showed that, at 2-year follow-up, 60% had experienced a clinically relevant improvement in the number of letters they could read on a visual acuity chart.
The results, said study presenter Chiara La Morgia, MD, PhD, IRCCS Istituto delle Scienze Neurologiche di Bologna (Italy), confirm in a “real-life setting” the efficacy and safety of the treatment as previously shown in clinical trials.
The findings were presented at the 2023 Congress of the European Academy of Neurology.
No funding was declared. Dr. La Morgia has relationships with Chiesi Farmaceutici, GenSight Biologics, Regulatory Pharma Net, Thenewway, Santhera Pharmaceuticals, First Class, Biologix, Stoke Therapeutics, and Reneo.
FDA OKs new drug for Fabry disease
The FDA has approved pegunigalsidase alfa (Elfabrio, Chiesi Global Rare Diseases/Protalix BioTherapeutics), an enzyme replacement therapy (ERT) to treat adults with Fabry disease.
Fabry disease is a rare inherited X-linked lysosomal disorder caused by a deficiency of the enzyme alpha-galactosidase A (GLA), which leads to the buildup of globotriaosylceramide (GL-3) in blood vessels, kidneys, heart, nerves, and other organs, increasing the risk for kidney failure, myocardial infarction, stroke, and other problems.
Elfabrio delivers a functional version of GLA. It is given by intravenous infusion every 2 weeks.
Evidence for safety, tolerability, and efficacy of Elfabrio stem from a comprehensive clinical program in more than 140 patients with up to 7.5 years of follow-up treatment.
It has been studied in both ERT-naive and ERT-experienced patients. In one head-to-head trial, Elfabrio was noninferior in safety and efficacy to agalsidase beta (Fabrazyme, Sanofi Genzyme), the companies said in a press statement announcing approval.
U.S. incidence, prevalence of myasthenia gravis are rising
There has been an increase in the incidence and prevalence of myasthenia gravis in the United States, an analysis of new claims data shows. Investigators speculate the rise of this rare disorder may be caused by “increased diagnosis and more awareness of the disease over time, which has been shown in several studies,” said study investigator Ema Rodrigues, DSc, MPH, with Alexion Pharmaceuticals, Boston.
Dr. Rodrigues presented her research at the 2023 annual meeting of the American Academy of Neurology.
Funding for the study was provided by Alexion, AstraZeneca Rare
Disease. Dr. Rodrigues receives compensation and owns stock as an employee of Alexion, AstraZeneca Rare Diseases.
Novel agent offers hope for hereditary ATTR polyneuropathy in pivotal trial
The investigational agent eplontersen (Ionis Pharmaceuticals/AstraZeneca) halted neuropathy disease progression and improved neuropathy impairment and quality of life for patients with hereditary transthyretin-mediated amyloid polyneuropathy (ATTRv-PN) in a pivotal phase 3 trial.
Eplontersen led to “clinically and statistically significant benefits at week 66 with an early and rapid sustained reduction in serum TTR [transthyretin] concentration, a halting of the progression of the neuropathy impairment, and a trend to improvement in quality of life,” said principal investigator Sami Khella, MD, professor of clinical neurology at the University of Pennsylvania, Philadelphia.
Dr. Khella reported final data from the NEURO-TTRansform trial at the annual meeting of the American Academy of Neurology.
The FDA has accepted a new drug application for eplontersen for the treatment of ATTRv-PN. The drug has a Prescription Drug User Fee Act date of Dec. 22, 2023. Eplontersen has orphan drug designation in the United States.
The study was sponsored by Ionis Pharmaceuticals. Dr. Khella has relationships with Ionis, Pfizer, Alnylam, and Eidos.
FDA gives fast-track approval to new ALS drug
The FDA has approved the first treatment that takes a genetics-based approach to slowing or stopping the progression of a rare form of amyotrophic lateral sclerosis (ALS).
The FDA fast-tracked the approval of Qalsody (Biogen) based on early trial results. The agency said in a news release that its decision was based on the demonstrated ability of the drug to reduce a protein in the blood that is a sign of degeneration of brain and nerve cells.
Qalsody is given to people via a spinal injection, with an initial course of three injections every 2 weeks. People then get the injection once every 28 days.
The new treatment is approved only for people with SOD1-ALS, which is known for a genetic mutation. While ALS affects up to 32,000 people in the United States, just 2% of people with ALS have the SOD1 gene mutation. The FDA says the number of people in the United States who could use Qalsody is about 500.
FDA OKs first treatment for Friedreich ataxia
The FDA has approved the first treatment for the neurodegenerative disorder Friedreich ataxia for use in adults and adolescents aged 16 and older.
The recommended dose of omaveloxolone (Skyclarys, Reata Pharmaceuticals) is 150 mg (three capsules) taken orally once daily on an empty stomach.
The FDA approval of omaveloxolone was supported by a randomized double-blind, placebo-controlled study comprising 103 patients with genetically confirmed Friedreich ataxia and baseline modified Friedreich Ataxia Rating Scale (mFARS) scores between 20 and 80.
Treatment with the novel medication led to statistically significant lower mFARS scores, signifying less impairment, relative to placebo, at week 48. The placebo-corrected difference between the two groups was –2.41 points (P = .0138).
Omaveloxolone received priority review and had orphan drug, fast track, and rare pediatric disease designations.
FDA OKs first drug for Rett syndrome
The FDA has approved trofinetide oral solution (Daybue, Acadia Pharmaceuticals) as the first treatment of Rett syndrome in adults and children aged 2 years and older.
Trofinetide is a synthetic analogue of the amino-terminal tripeptide of insulinlike growth factor-1, which occurs naturally in the brain. The drug is designed to treat the core symptoms of Rett syndrome by potentially reducing neuroinflammation and supporting synaptic function.
The approval of trofinetide was supported by results from the pivotal phase 3 LAVENDER study that tested the efficacy and safety of trofinetide versus placebo in 187 female patients with Rett syndrome, aged 5-20 years.
More data back Guillain-Barré risk with Janssen COVID shot
New surveillance data from the Vaccine Adverse Event Reporting System (VAERS) back previous findings of increased risk for Guillain-Barré syndrome (GBS) after receiving the Janssen COVID-19 vaccine (Ad26.COV2.S).
Over 14 months, GBS reporting rates within 21 and 42 days of administration of Janssen’s replication-incompetent adenoviral vector vaccine were approximately 9-12 times higher than after administration of the Pfizer-BioNTech (BNT162b2) or the Moderna (mRNA-1273) mRNA COVID vaccines.
Additionally, observed GBS cases after the Janssen shot were two to three times greater than expected, based on background rates within 21 and 42 days of vaccination.
Conversely, and confirming prior data, there was no increased risk for GBS with the Pfizer or Moderna vaccines and no significant difference between observed and expected numbers of GBS cases after either mRNA COVID-19 vaccine.
The findings were published online in JAMA Network Open (2023 Feb 1. doi: 10.1001/jamanetworkopen.2022.53845).
Diazepam nasal spray effective in Lennox-Gastaut syndrome
A new analysis of data from a phase 3 clinical trial suggests that an inhaled diazepam nasal spray (Valtoco, Neurelis) works about as well among patients with Lennox-Gastaut syndrome (LGS) as it does with other patients with pediatric encephalopathies.
LGS is a severe form of epilepsy that generally begins in early childhood and has a poor prognosis and seizures that are often treatment refractory. The findings of the analysis should be encouraging to physicians who may view patients with LGS as not benefiting from treatment, said Daniel C. Tarquinio, DO, who presented the results at the 2022 annual meeting of the Child Neurology Society.
Novel cannabis oil curbs tics in severe Tourette syndrome
An oral oil containing tetrahydrocannabinol (THC) and cannabidiol (CBD) led to a significant and meaningful reduction in motor and vocal tics in patients with severe Tourette syndrome, results of a double-blind, placebo-controlled, crossover study showed.
“In a methodologically robust manner (and independent of any drug company sponsorship), we provide evidence for the effectiveness of repeated dosing with THC:CBD versus placebo in tic
suppression, as well as reduction of comorbid anxiety and obsessive-compulsive disorder in severe Tourette syndrome,” neuropsychiatrist and lead investigator Philip Mosley, PhD, said in an interview.
The results offer support to people with Tourette syndrome who “want to approach their doctor to try medicinal cannabis when other drugs have not worked or are intolerable,” said
Dr. Mosley, of the Wesley Research Institute and QIMR Berghofer Medical Research Institute, Herston, Australia.
The study was published online in NEJM Evidence (2023 Jun 7. doi: 10.1056/EVIDoa2300012).
Twenty-two adults (mean age, 31 years) with severe Tourette syndrome received THC:CBD oil titrated upward over 6 weeks to a daily dose of 20 mg of THC and 20 mg of CBD, followed by a 6-week course of placebo (or vice versa). Six participants had not previously used cannabis.
The primary outcome was the total tic score on the Yale Global Tic Severity Scale (YGTSS; range, 0-50 with higher scores = greater tic severity).
The mean baseline YGTSS total tic score was 35.7. At 6 weeks, the reduction in total tic score was 8.9 with THC:CBD versus 2.5 with placebo.
A linear mixed-effects model (intention to treat) showed a significant interaction of treatment and visit number (P = .008), indicating a greater decrease (improvement) in tic score over time with THC:CBD, the study team reported.
On average, the magnitude of the tic reduction was “moderate” and comparable with the effect observed with existing treatments such as antipsychotic agents, the investigators noted.
The study was funded by the Wesley Medical Research Institute, Brisbane, and the Lambert Initiative for Cannabinoid Therapeutics, a philanthropically funded research organization at the University of Sydney, Australia.
Dr. Mosley reported no relevant financial relationships.
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<root generator="drupal.xsl" gversion="1.7"> <header> <fileName>165109_web</fileName> <TBEID>0C04C982.SIG</TBEID> <TBUniqueIdentifier>MD_0C04C982</TBUniqueIdentifier> <newsOrJournal>News</newsOrJournal> <publisherName>Frontline Medical Communications</publisherName> <storyname/> <articleType>2</articleType> <TBLocation>Inbox-All Pubs</TBLocation> <QCDate/> <firstPublished>20231010T155145</firstPublished> <LastPublished>20231010T155145</LastPublished> <pubStatus qcode="stat:"/> <embargoDate/> <killDate/> <CMSDate>20231010T155145</CMSDate> <articleSource/> <facebookInfo/> <meetingNumber/> <byline/> <bylineText/> <bylineFull/> <bylineTitleText/> <USOrGlobal/> <wireDocType/> <newsDocType/> <journalDocType/> <linkLabel/> <pageRange/> <citation/> <quizID/> <indexIssueDate/> <itemClass qcode="ninat:text"/> <provider qcode="provider:imng"> <name>IMNG Medical Media</name> <rightsInfo> <copyrightHolder> <name>Frontline Medical News</name> </copyrightHolder> <copyrightNotice>Copyright (c) 2015 Frontline Medical News, a Frontline Medical Communications Inc. company. All rights reserved. This material may not be published, broadcast, copied, or otherwise reproduced or distributed without the prior written permission of Frontline Medical Communications Inc.</copyrightNotice> </rightsInfo> </provider> <abstract/> <metaDescription>Ropinirole, a drug used for Parkinson’s disease, shows promise in slowing the progression of amyotrophic lateral sclerosis (ALS), early research suggests.</metaDescription> <articlePDF/> <teaserImage/> <teaser>A look back at some of the 2023 rare disease headlines from Neurology Reviews. </teaser> <title>Rare disease roundup</title> <deck/> <disclaimer/> <AuthorList/> <articleURL/> <doi/> <pubMedID/> <publishXMLStatus/> <publishXMLVersion>1</publishXMLVersion> <useEISSN>0</useEISSN> <urgency/> <pubPubdateYear/> <pubPubdateMonth/> <pubPubdateDay/> <pubVolume/> <pubNumber/> <wireChannels/> <primaryCMSID/> <CMSIDs/> <keywords/> <seeAlsos/> <publications_g> <publicationData> <publicationCode>nr</publicationCode> <pubIssueName/> <pubArticleType/> <pubTopics/> <pubCategories/> <pubSections/> <journalTitle>Neurology Reviews</journalTitle> <journalFullTitle>Neurology Reviews</journalFullTitle> <copyrightStatement>2018 Frontline Medical Communications Inc.,</copyrightStatement> </publicationData> </publications_g> <publications> <term canonical="true">22</term> </publications> <sections> <term canonical="true">75329</term> </sections> <topics> <term canonical="true">27442</term> </topics> <links/> </header> <itemSet> <newsItem> <itemMeta> <itemRole>Main</itemRole> <itemClass>text</itemClass> <title>Rare disease roundup</title> <deck/> </itemMeta> <itemContent> <h2>Can a repurposed Parkinson’s drug slow ALS progression?</h2> <p>Ropinirole, a drug used for Parkinson’s disease, shows promise in slowing the progression of amyotrophic lateral sclerosis (ALS), early research suggests. </p> <p>Investigators randomly assigned 20 individuals with sporadic ALS to receive either ropinirole or placebo for 24 weeks. During the double-blind period, there was no difference between the groups in terms of decline in functional status.<br/><br/>However, during a further open-label extension period, the ropinirole group showed significant suppression of functional decline and an average of an additional 7 months of progression-free survival.<br/><br/>The researchers were able to predict clinical responsiveness to ropinirole in vitro by analyzing motor neurons derived from participants’ stem cells.<br/><br/>The study was published online in Cell Stem Cell (2023 Jun 1. doi: 10.1016/j.stem.2023.04.017).<br/><br/>The trial was sponsored by K Pharma. The study drug, active drugs, and placebo were supplied free of charge by GlaxoSmithKline. <br/><br/></p> <h2>West Nile infections rising in the U.S.</h2> <p>Several signs are pointing to an impending surge in the number of human cases of West Nile virus in several regions of the United States. West Nile virus is spread by infected mosquitoes and currently there is no cure or virus-specific treatment. In rare cases, it can be deadly. It can infect humans, birds, horses, and other mammals.</p> <p>West Nile Virus is the leading cause of mosquito-borne disease in the continental United States. As of Aug. 8, 126 human cases had been identified across 22 states, according to the Centers for Disease Control and Prevention.<br/><br/>“Particularly here in California, it’s peak risk right now,” said Vicki Kramer, PhD, chief of vector-borne diseases in the California Department of Public Health. She said scientists there are seeing higher mosquito and infected mosquito numbers.<br/><br/>Dead birds are tested for the virus and by Aug. 4, 181 of the 913 birds tested in California have been positive, three times the total testing positive by that time in 2022.<br/><br/>“Last year at this time, we had 60 positive dead birds out of 817 tested,” Dr. Kramer said.<br/><br/>Myasthenia gravis drug gets FDA nod<br/><br/>The Food and Drug Administration (FDA) has approved rozanolixizumab (Rystiggo, UCB) to treat adults with generalized myasthenia gravis (gMG) who are positive for anti-acetylcholine receptor (AChR) or anti–muscle-specific tyrosine kinase (MuSK) antibody, the drug’s manufacturer, UCB, has announced.<br/><br/>gMG is a rare autoimmune disease of the nerve muscle junction. Anti-AChR and anti-MuSK antibody-positive gMG are the two most common subtypes. Rozanolixizumab is the first FDA-approved treatment for adults with both subtypes.<br/><br/>Rozanolixizumab is a subcutaneous-infused humanized IgG4 monoclonal antibody that binds to the neonatal Fc <br/><br/>receptor (FcRn), reducing the concentration of pathogenic IgG autoantibodies.<br/><br/>U.S. approval is based on results of the phase 3 <br/><br/>MycarinG study involving 200 patients with AChR or MuSK autoantibody-positive gMG. Patients were randomly assigned to one of two rozanolixizumab groups (7 mg/kg or 10 mg/kg) or placebo for 6 weeks.<br/><br/>As reported in The Lancet Neurology (2023 May. doi: 10.1016/S1474-4422[23]00077-7), rozanolixizumab led to statistically significant improvements in gMG-specific outcomes, including everyday activities such as breathing, talking, swallowing, and being able to rise from a chair.<br/><br/></p> <h2>Gene therapy promising for reversal of hereditary vision loss</h2> <p>An unapproved gene therapy for Leber hereditary optic neuropathy (LHON) led to a marked improvement in the eyesight of patients with a severe, progressive form of the disease who received the therapy as part of an early access program.</p> <p>Results of a study of more than 60 patients who received lenadogene nolparvovec (Lumevoq, GenSight Biologics) as a unilateral or bilateral intravitreal injection showed that, at 2-year follow-up, 60% had experienced a clinically relevant improvement in the number of letters they could read on a visual acuity chart.<br/><br/>The results, said study presenter Chiara La Morgia, MD, PhD, IRCCS Istituto delle Scienze Neurologiche di Bologna (Italy), confirm in a “real-life setting” the efficacy and safety of the treatment as previously shown in clinical trials.<br/><br/>The findings were presented at the 2023 Congress of the European Academy of Neurology.<br/><br/>No funding was declared. Dr. La Morgia has relationships with Chiesi Farmaceutici, GenSight Biologics, Regulatory Pharma Net, Thenewway, Santhera Pharmaceuticals, First Class, Biologix, Stoke Therapeutics, and Reneo.<br/><br/></p> <h2>FDA OKs new drug for Fabry disease</h2> <p>The FDA has approved pegunigalsidase alfa (Elfabrio, Chiesi Global Rare Diseases/Protalix BioTherapeutics), an enzyme replacement therapy (ERT) to treat adults with Fabry disease.</p> <p>Fabry disease is a rare inherited X-linked lysosomal disorder caused by a deficiency of the enzyme alpha-galactosidase A (GLA), which leads to the buildup of globotriaosylceramide (GL-3) in blood vessels, kidneys, heart, nerves, and other organs, increasing the risk for kidney failure, myocardial infarction, stroke, and other problems.<br/><br/>Elfabrio delivers a functional version of GLA. It is given by intravenous infusion every 2 weeks.<br/><br/>Evidence for safety, tolerability, and efficacy of Elfabrio stem from a comprehensive clinical program in more than 140 patients with up to 7.5 years of follow-up treatment.<br/><br/>It has been studied in both ERT-naive and ERT-<br/><br/>experienced patients. In one head-to-head trial, Elfabrio was <br/><br/>noninferior in safety and efficacy to agalsidase beta (Fabrazyme, Sanofi Genzyme), the companies said in a press statement announcing approval.<br/><br/></p> <h2>U.S. incidence, prevalence of myasthenia gravis are rising</h2> <p>There has been an increase in the incidence and prevalence of myasthenia gravis in the United States, an analysis of new claims data shows. Investigators speculate the rise of this rare disorder may be caused by “increased diagnosis and more awareness of the disease over time, which has been shown in several studies,” said study investigator Ema Rodrigues, DSc, MPH, with Alexion Pharmaceuticals, Boston.</p> <p>Dr. Rodrigues presented her research at the 2023 annual meeting of the American Academy of Neurology.<br/><br/>Funding for the study was provided by Alexion, AstraZeneca Rare <br/><br/>Disease. Dr. Rodrigues receives compensation and owns stock as an employee of Alexion, AstraZeneca Rare Diseases. <br/><br/></p> <h2>Novel agent offers hope for hereditary ATTR polyneuropathy in pivotal trial</h2> <p>The investigational agent eplontersen (Ionis Pharmaceuticals/AstraZeneca) halted neuropathy disease progression and improved neuropathy impairment and quality of life for patients with hereditary transthyretin-mediated amyloid polyneuropathy (ATTRv-PN) in a pivotal phase 3 trial.</p> <p>Eplontersen led to “clinically and statistically significant benefits at week 66 with an early and rapid sustained reduction in serum TTR [transthyretin] concentration, a halting of the progression of the neuropathy impairment, and a trend to improvement in quality of life,” said principal investigator Sami Khella, MD, professor of clinical neurology at the University of Pennsylvania, Philadelphia.<br/><br/>Dr. Khella reported final data from the NEURO-TTRansform trial at the annual meeting of the American Academy of Neurology.<br/><br/>The FDA has accepted a new drug application for eplontersen for the treatment of ATTRv-PN. The drug has a Prescription Drug User Fee Act date of Dec. 22, 2023. Eplontersen has orphan drug designation in the United States.<br/><br/>The study was sponsored by Ionis Pharmaceuticals. Dr. Khella has relationships with Ionis, Pfizer, Alnylam, and Eidos. <br/><br/></p> <h2>FDA gives fast-track approval to new ALS drug</h2> <p>The FDA has approved the first treatment that takes a genetics-based approach to slowing or stopping the progression of a rare form of amyotrophic lateral sclerosis (ALS).</p> <p>The FDA fast-tracked the approval of Qalsody (Biogen) based on early trial results. The agency said in a news release that its decision was based on the demonstrated ability of the drug to reduce a protein in the blood that is a sign of degeneration of brain and nerve cells.<br/><br/>Qalsody is given to people via a spinal injection, with an initial course of three injections every 2 weeks. People then get the injection once every 28 days.<br/><br/>The new treatment is approved only for people with SOD1-ALS, which is known for a genetic mutation. While ALS affects up to 32,000 people in the United States, just 2% of people with ALS have the SOD1 gene mutation. The FDA says the number of people in the United States who could use Qalsody is about 500.<br/><br/></p> <h2>FDA OKs first treatment for Friedreich ataxia</h2> <p>The FDA has approved the first treatment for the neurodegenerative disorder Friedreich ataxia for use in adults and adolescents aged 16 and older.</p> <p>The recommended dose of omaveloxolone (Skyclarys, Reata Pharmaceuticals) is 150 mg (three capsules) taken orally once daily on an empty stomach. <br/><br/>The FDA approval of omaveloxolone was supported by a randomized double-blind, placebo-controlled study comprising 103 patients with genetically confirmed Friedreich ataxia and baseline modified Friedreich Ataxia Rating Scale (mFARS) scores between 20 and 80.<br/><br/>Treatment with the novel medication led to statistically significant lower mFARS scores, signifying less impairment, relative to placebo, at week 48. The placebo-corrected difference between the two groups was –2.41 points (P = .0138).<br/><br/>Omaveloxolone received priority review and had orphan drug, fast track, and rare pediatric disease designations.<br/><br/></p> <h2>FDA OKs first drug for Rett syndrome</h2> <p>The FDA has approved trofinetide oral solution (Daybue, Acadia Pharmaceuticals) as the first treatment of Rett syndrome in adults and children aged 2 years and older.</p> <p>Trofinetide is a synthetic analogue of the amino-terminal tripeptide of insulinlike growth factor-1, which occurs naturally in the brain. The drug is designed to treat the core symptoms of Rett syndrome by potentially reducing neuroinflammation and supporting synaptic function.<br/><br/>The approval of trofinetide was supported by results from the pivotal phase 3 LAVENDER study that tested the efficacy and safety of trofinetide versus placebo in 187 female patients with Rett syndrome, aged 5-20 years.<br/><br/><br/><br/>More data back Guillain-Barré risk with Janssen COVID shot</p> <p>New surveillance data from the Vaccine Adverse Event Reporting System (VAERS) back previous findings of increased risk for Guillain-Barré syndrome (GBS) after receiving the Janssen COVID-19 vaccine (Ad26.COV2.S).</p> <p>Over 14 months, GBS reporting rates within 21 and 42 days of administration of Janssen’s replication-incompetent adenoviral vector vaccine were approximately 9-12 times higher than after administration of the Pfizer-BioNTech (BNT162b2) or the Moderna (mRNA-1273) mRNA COVID vaccines.<br/><br/>Additionally, observed GBS cases after the Janssen shot were two to three times greater than expected, based on background rates within 21 and 42 days of vaccination.<br/><br/>Conversely, and confirming prior data, there was no increased risk for GBS with the Pfizer or Moderna vaccines and no significant difference between observed and expected numbers of GBS cases after either mRNA COVID-19 vaccine.<br/><br/>The findings were published online in JAMA Network Open (2023 Feb 1. doi: 10.1001/jamanetworkopen.2022.53845).<br/><br/></p> <h2>Diazepam nasal spray effective in Lennox-Gastaut syndrome</h2> <p>A new analysis of data from a phase 3 clinical trial suggests that an inhaled diazepam nasal spray (Valtoco, Neurelis) works about as well among patients with Lennox-Gastaut syndrome (LGS) as it does with other patients with pediatric encephalopathies.</p> <p>LGS is a severe form of epilepsy that generally begins in early childhood and has a poor prognosis and seizures that are often treatment refractory. The findings of the analysis should be encouraging to physicians who may view patients with LGS as not benefiting from treatment, said Daniel C. Tarquinio, DO, who presented the results at the 2022 annual meeting of the Child Neurology Society.<br/><br/></p> <h2>Novel cannabis oil curbs tics in severe Tourette syndrome</h2> <p>An oral oil containing tetrahydrocannabinol (THC) and cannabidiol (CBD) led to a significant and meaningful reduction in motor and vocal tics in patients with severe Tourette syndrome, results of a double-blind, placebo-controlled, crossover study showed.</p> <p>“In a methodologically robust manner (and independent of any drug company sponsorship), we provide evidence for the effectiveness of repeated dosing with THC:CBD versus placebo in tic <br/><br/>suppression, as well as reduction of comorbid anxiety and obsessive-compulsive disorder in severe Tourette syndrome,” neuropsychiatrist and lead investigator Philip Mosley, PhD, said in an interview.<br/><br/>The results offer support to people with Tourette syndrome who “want to approach their doctor to try medicinal cannabis when other drugs have not worked or are intolerable,” said <br/><br/>Dr. Mosley, of the Wesley Research Institute and QIMR Berghofer Medical Research Institute, Herston, Australia.<br/><br/>The study was published online in NEJM Evidence (2023 Jun 7. doi: 10.1056/EVIDoa2300012).<br/><br/>Twenty-two adults (mean age, 31 years) with severe Tourette syndrome received THC:CBD oil titrated upward over 6 weeks to a daily dose of 20 mg of THC and 20 mg of CBD, followed by a 6-week course of placebo (or vice versa). Six participants had not previously used cannabis.<br/><br/>The primary outcome was the total tic score on the Yale Global Tic Severity Scale (YGTSS; range, 0-50 with higher scores = greater tic severity).<br/><br/>The mean baseline YGTSS total tic score was 35.7. At 6 weeks, the reduction in total tic score was 8.9 with THC:CBD versus 2.5 with placebo.<br/><br/>A linear mixed-effects model (intention to treat) showed a significant interaction of treatment and visit number (P = .008), indicating a greater decrease (improvement) in tic score over time with THC:CBD, the study team reported.<br/><br/>On average, the magnitude of the tic reduction was “moderate” and comparable with the effect observed with existing treatments such as antipsychotic agents, the investigators noted.<br/><br/>The study was funded by the Wesley Medical Research Institute, Brisbane, and the Lambert Initiative for Cannabinoid Therapeutics, a philanthropically funded research organization at the University of Sydney, Australia. <br/><br/>Dr. Mosley reported no relevant financial relationships.</p> </itemContent> </newsItem> <newsItem> <itemMeta> <itemRole>teaser</itemRole> <itemClass>text</itemClass> <title/> <deck/> </itemMeta> <itemContent> </itemContent> </newsItem> </itemSet></root>