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.