News from NORD

The National Organization for Rare Disorders (NORD) will develop longitudinal natural history studies with 20 rare disease patient organizations to advance understanding of rare diseases and support research. The project is supported in part by a cooperative agreement with the U.S. Food and Drug Administration (FDA).

The 20 patient organizations selected to participate with NORD in this initiative are: Hereditary Neuropathy Foundation; Organic Acidemia Association; XLH Network, Inc.; CCHS Family Network; Pitt Hopkins Research Foundation; OMSLife Foundation; Platelet Disorder Support Association; Global Foundation for Peroxisomal Disorders; APS Type 1 Foundation; Scleroderma Research Foundation; Galactosemia Foundation; Desmoid Tumor Research Foundation; International Pemphigus and Pemphigoid Foundation; Morgan Leary Vaughn Fund; Adult Polyglucosan Body Disease (APBD) Research Foundation; Bridge the Gap-SYNGAP Education and Research Foundation; American Multiple Endocrine Neoplasia (AMEN) Support; Lipoprotein(a) Foundation; and Worldwide Syringomyelia & Chiari Task Force.

All diseases represented have diagnostic challenges and limited current research. The initiative will cover a broad range of diseases and medical specialties, including neurology, cardiology, immunology, and endocrinology.

The intent is to develop longitudinal studies to help medical researchers better understand how these rare diseases progress and develop over time. Rare diseases pose unique challenges to researchers and drug developers because of small patient populations, lack of data, clinical endpoints that are often unclear, and enrollment and retention challenges for clinical trials. There are nearly 7,000 diseases considered rare in the United States, 95% of which do not have approved treatments.

The National Organization for Rare Disorders (NORD) will develop longitudinal natural history studies with 20 rare disease patient organizations to advance understanding of rare diseases and support research. The project is supported in part by a cooperative agreement with the U.S. Food and Drug Administration (FDA).

The 20 patient organizations selected to participate with NORD in this initiative are: Hereditary Neuropathy Foundation; Organic Acidemia Association; XLH Network, Inc.; CCHS Family Network; Pitt Hopkins Research Foundation; OMSLife Foundation; Platelet Disorder Support Association; Global Foundation for Peroxisomal Disorders; APS Type 1 Foundation; Scleroderma Research Foundation; Galactosemia Foundation; Desmoid Tumor Research Foundation; International Pemphigus and Pemphigoid Foundation; Morgan Leary Vaughn Fund; Adult Polyglucosan Body Disease (APBD) Research Foundation; Bridge the Gap-SYNGAP Education and Research Foundation; American Multiple Endocrine Neoplasia (AMEN) Support; Lipoprotein(a) Foundation; and Worldwide Syringomyelia & Chiari Task Force.

All diseases represented have diagnostic challenges and limited current research. The initiative will cover a broad range of diseases and medical specialties, including neurology, cardiology, immunology, and endocrinology.

The intent is to develop longitudinal studies to help medical researchers better understand how these rare diseases progress and develop over time. Rare diseases pose unique challenges to researchers and drug developers because of small patient populations, lack of data, clinical endpoints that are often unclear, and enrollment and retention challenges for clinical trials. There are nearly 7,000 diseases considered rare in the United States, 95% of which do not have approved treatments.

The National Organization for Rare Disorders (NORD) will develop longitudinal natural history studies with 20 rare disease patient organizations to advance understanding of rare diseases and support research. The project is supported in part by a cooperative agreement with the U.S. Food and Drug Administration (FDA).

The 20 patient organizations selected to participate with NORD in this initiative are: Hereditary Neuropathy Foundation; Organic Acidemia Association; XLH Network, Inc.; CCHS Family Network; Pitt Hopkins Research Foundation; OMSLife Foundation; Platelet Disorder Support Association; Global Foundation for Peroxisomal Disorders; APS Type 1 Foundation; Scleroderma Research Foundation; Galactosemia Foundation; Desmoid Tumor Research Foundation; International Pemphigus and Pemphigoid Foundation; Morgan Leary Vaughn Fund; Adult Polyglucosan Body Disease (APBD) Research Foundation; Bridge the Gap-SYNGAP Education and Research Foundation; American Multiple Endocrine Neoplasia (AMEN) Support; Lipoprotein(a) Foundation; and Worldwide Syringomyelia & Chiari Task Force.

All diseases represented have diagnostic challenges and limited current research. The initiative will cover a broad range of diseases and medical specialties, including neurology, cardiology, immunology, and endocrinology.

The intent is to develop longitudinal studies to help medical researchers better understand how these rare diseases progress and develop over time. Rare diseases pose unique challenges to researchers and drug developers because of small patient populations, lack of data, clinical endpoints that are often unclear, and enrollment and retention challenges for clinical trials. There are nearly 7,000 diseases considered rare in the United States, 95% of which do not have approved treatments.

The Undiagnosed Diseases Network (UDN), a research project supported by the National Institutes of Health (NIH) Common Fund, brings together clinical and research experts from across the country to try to solve the most challenging medical mysteries. As part of this project, patients with longstanding unexplained symptoms can apply to receive an in-depth clinical and research examination at one of the UDN’s seven medical centers.

The National Organization for Rare Disorders (NORD) and the UDN will co-host a free webinar from 1 to 2 p.m. ET on Friday, June 3, for clinicians, researchers, and patients that will provide an overview of the UDN, discuss the application and evaluation process, and review financial considerations. Participants will also have the opportunity to hear from a patient who has been through the UDN clinical and research evaluation.

Speakers will include Katrina Dipple, MD, PhD, Departments of Human Genetics and Pediatrics, University of California, Los Angeles; Vandana Shashi, MD, Department of Pediatrics, Duke University Medical Center; Kimberly Splinter, MS, CGC, Genetic Counselor and Clinical Project Manager, UDN Coordinating Center, Harvard Medical School.

Register here for this free webinar. Questions may be directed to education@rarediseases.org. 

The Undiagnosed Diseases Network (UDN), a research project supported by the National Institutes of Health (NIH) Common Fund, brings together clinical and research experts from across the country to try to solve the most challenging medical mysteries. As part of this project, patients with longstanding unexplained symptoms can apply to receive an in-depth clinical and research examination at one of the UDN’s seven medical centers.

The National Organization for Rare Disorders (NORD) and the UDN will co-host a free webinar from 1 to 2 p.m. ET on Friday, June 3, for clinicians, researchers, and patients that will provide an overview of the UDN, discuss the application and evaluation process, and review financial considerations. Participants will also have the opportunity to hear from a patient who has been through the UDN clinical and research evaluation.

Speakers will include Katrina Dipple, MD, PhD, Departments of Human Genetics and Pediatrics, University of California, Los Angeles; Vandana Shashi, MD, Department of Pediatrics, Duke University Medical Center; Kimberly Splinter, MS, CGC, Genetic Counselor and Clinical Project Manager, UDN Coordinating Center, Harvard Medical School.

Register here for this free webinar. Questions may be directed to education@rarediseases.org. 

The Undiagnosed Diseases Network (UDN), a research project supported by the National Institutes of Health (NIH) Common Fund, brings together clinical and research experts from across the country to try to solve the most challenging medical mysteries. As part of this project, patients with longstanding unexplained symptoms can apply to receive an in-depth clinical and research examination at one of the UDN’s seven medical centers.

The National Organization for Rare Disorders (NORD) and the UDN will co-host a free webinar from 1 to 2 p.m. ET on Friday, June 3, for clinicians, researchers, and patients that will provide an overview of the UDN, discuss the application and evaluation process, and review financial considerations. Participants will also have the opportunity to hear from a patient who has been through the UDN clinical and research evaluation.

Speakers will include Katrina Dipple, MD, PhD, Departments of Human Genetics and Pediatrics, University of California, Los Angeles; Vandana Shashi, MD, Department of Pediatrics, Duke University Medical Center; Kimberly Splinter, MS, CGC, Genetic Counselor and Clinical Project Manager, UDN Coordinating Center, Harvard Medical School.

Register here for this free webinar. Questions may be directed to education@rarediseases.org. 

In collaboration with NIH, China has established its first Undiagnosed Diseases Program center dedicated to helping solve rare disease medical mysteries. The center is based at Fudan University.

In collaboration with NIH, China has established its first Undiagnosed Diseases Program center dedicated to helping solve rare disease medical mysteries. The center is based at Fudan University.

In collaboration with NIH, China has established its first Undiagnosed Diseases Program center dedicated to helping solve rare disease medical mysteries. The center is based at Fudan University.

NORD has published a list of recent (over the past month) orphan drug designations and approvals.

NORD has published a list of recent (over the past month) orphan drug designations and approvals.

NORD has published a list of recent (over the past month) orphan drug designations and approvals.

To help clinical investigators make clinical trials more efficient, the Food and Drug Administration (FDA) and National Institutes of Health (NIH) have developed a draft clinical trial protocol template. The hope is to facilitate creativity and innovation, while also promoting efficiency to optimize clinical trial success. The template is posted online and public comments will be accepted until April 17.

To help clinical investigators make clinical trials more efficient, the Food and Drug Administration (FDA) and National Institutes of Health (NIH) have developed a draft clinical trial protocol template. The hope is to facilitate creativity and innovation, while also promoting efficiency to optimize clinical trial success. The template is posted online and public comments will be accepted until April 17.

To help clinical investigators make clinical trials more efficient, the Food and Drug Administration (FDA) and National Institutes of Health (NIH) have developed a draft clinical trial protocol template. The hope is to facilitate creativity and innovation, while also promoting efficiency to optimize clinical trial success. The template is posted online and public comments will be accepted until April 17.

The NIH Undiagnosed Diseases Network (UDN) was expanded last year to include seven centers at locations across the United States. The UDN brings together clinical and research experts from across the US to solve the most challenging medical mysteries using advanced technologies. It is funded by the NIH Common Fund, and at a recent public forum to discuss continuation of funding, a NORD representative spoke about the importance of this network to rare disease patients and their physicians. Any patient can apply to the network with support from his/her physician. Application is made through an online NIH UDN portal.

The NIH Undiagnosed Diseases Network (UDN) was expanded last year to include seven centers at locations across the United States. The UDN brings together clinical and research experts from across the US to solve the most challenging medical mysteries using advanced technologies. It is funded by the NIH Common Fund, and at a recent public forum to discuss continuation of funding, a NORD representative spoke about the importance of this network to rare disease patients and their physicians. Any patient can apply to the network with support from his/her physician. Application is made through an online NIH UDN portal.

The NIH Undiagnosed Diseases Network (UDN) was expanded last year to include seven centers at locations across the United States. The UDN brings together clinical and research experts from across the US to solve the most challenging medical mysteries using advanced technologies. It is funded by the NIH Common Fund, and at a recent public forum to discuss continuation of funding, a NORD representative spoke about the importance of this network to rare disease patients and their physicians. Any patient can apply to the network with support from his/her physician. Application is made through an online NIH UDN portal.

NORD is partnering with the Hole in the Wall Gang, established by the late actor Paul Newman, to provide a free summer camping experience for families who have children with rare diseases. The camp will take place June 2-5 in Connecticut. Families living in the Northeast region of the United States are encouraged to apply, and up to 25 families can be accommodated. Online registration is now open.

NORD is partnering with the Hole in the Wall Gang, established by the late actor Paul Newman, to provide a free summer camping experience for families who have children with rare diseases. The camp will take place June 2-5 in Connecticut. Families living in the Northeast region of the United States are encouraged to apply, and up to 25 families can be accommodated. Online registration is now open.

NORD is partnering with the Hole in the Wall Gang, established by the late actor Paul Newman, to provide a free summer camping experience for families who have children with rare diseases. The camp will take place June 2-5 in Connecticut. Families living in the Northeast region of the United States are encouraged to apply, and up to 25 families can be accommodated. Online registration is now open.

The National Organization for Rare Disorders (NORD) will honor individuals and organizations for achievements to improve the lives of patients with rare diseases at its Rare Impact Awards celebration in Washington DC on Tuesday, May 17. Award recipients will be:

• Senator Orrin Hatch (R-UT)
• Representative Doris Matsui (D-CA)
• Arthur Caplan, PhD
• Stephen Cederbaum, MD
• The Friedreich’s Ataxia Research Alliance (FARA)
• Dawn Laney, MS, CGC, CCRC
• Desiree Lynn Howe
• Deborah Miller
• Noah Victoria

In addition, five companies will be honored for developing treatments for rare diseases that were approved by the FDA in 2015. Those companies are:

• Alexion Pharmaceuticals, Inc.
• Asklepion Pharmaceuticals, LLC
• Astellas Pharma
• United Therapeutics Corporation
• Wellstat Therapeutics Corporation

NORD hosts the awards celebration each year to highlight the achievements of legislators, rare disease clinicians and researchers, patient advocates, and others during the previous year. This year’s event will take place at the Warner Theatre in Washington DC and is open to all. Online registration, as well as information about sponsorship, is available on the NORD website.

The National Organization for Rare Disorders (NORD) will honor individuals and organizations for achievements to improve the lives of patients with rare diseases at its Rare Impact Awards celebration in Washington DC on Tuesday, May 17. Award recipients will be:

• Senator Orrin Hatch (R-UT)
• Representative Doris Matsui (D-CA)
• Arthur Caplan, PhD
• Stephen Cederbaum, MD
• The Friedreich’s Ataxia Research Alliance (FARA)
• Dawn Laney, MS, CGC, CCRC
• Desiree Lynn Howe
• Deborah Miller
• Noah Victoria

In addition, five companies will be honored for developing treatments for rare diseases that were approved by the FDA in 2015. Those companies are:

• Alexion Pharmaceuticals, Inc.
• Asklepion Pharmaceuticals, LLC
• Astellas Pharma
• United Therapeutics Corporation
• Wellstat Therapeutics Corporation

NORD hosts the awards celebration each year to highlight the achievements of legislators, rare disease clinicians and researchers, patient advocates, and others during the previous year. This year’s event will take place at the Warner Theatre in Washington DC and is open to all. Online registration, as well as information about sponsorship, is available on the NORD website.

The National Organization for Rare Disorders (NORD) will honor individuals and organizations for achievements to improve the lives of patients with rare diseases at its Rare Impact Awards celebration in Washington DC on Tuesday, May 17. Award recipients will be:

• Senator Orrin Hatch (R-UT)
• Representative Doris Matsui (D-CA)
• Arthur Caplan, PhD
• Stephen Cederbaum, MD
• The Friedreich’s Ataxia Research Alliance (FARA)
• Dawn Laney, MS, CGC, CCRC
• Desiree Lynn Howe
• Deborah Miller
• Noah Victoria

In addition, five companies will be honored for developing treatments for rare diseases that were approved by the FDA in 2015. Those companies are:

• Alexion Pharmaceuticals, Inc.
• Asklepion Pharmaceuticals, LLC
• Astellas Pharma
• United Therapeutics Corporation
• Wellstat Therapeutics Corporation

NORD hosts the awards celebration each year to highlight the achievements of legislators, rare disease clinicians and researchers, patient advocates, and others during the previous year. This year’s event will take place at the Warner Theatre in Washington DC and is open to all. Online registration, as well as information about sponsorship, is available on the NORD website.

A new consensus report from the Institute of Medicine (IOM) states that research into mitochondrial replacement techniques (MRT) in which an embryo has genetic information from three people should be allowed to move forward under limited conditions. MRT could allow women with mitochondrial disease to have genetically related children without passing on their mitochondrial DNA. Click for more information.

A new consensus report from the Institute of Medicine (IOM) states that research into mitochondrial replacement techniques (MRT) in which an embryo has genetic information from three people should be allowed to move forward under limited conditions. MRT could allow women with mitochondrial disease to have genetically related children without passing on their mitochondrial DNA. Click for more information.

A new consensus report from the Institute of Medicine (IOM) states that research into mitochondrial replacement techniques (MRT) in which an embryo has genetic information from three people should be allowed to move forward under limited conditions. MRT could allow women with mitochondrial disease to have genetically related children without passing on their mitochondrial DNA. Click for more information.

A free continuing education course, FDA Overview of Biosimilar Products, is available to health care providers. The course was designed to help providers strengthen their knowledge and understanding of biosimilars and interchangeable products, which are not the same as generic products.

In February 2015, the FDA approved the first biosimilar in the U.S., and there is growing interest in biosimilars in the pharmaceutical industry. The new course will help health care professionals understand how a biosimilar can be prescribed and dispensed, and how and when an interchangeable product can be substituted for another biological product.

The course is available to health professionals on FDA’s CDERLearn website and can be completed on a tablet for those not at their desktop computer. Click for more information.  

A free continuing education course, FDA Overview of Biosimilar Products, is available to health care providers. The course was designed to help providers strengthen their knowledge and understanding of biosimilars and interchangeable products, which are not the same as generic products.

In February 2015, the FDA approved the first biosimilar in the U.S., and there is growing interest in biosimilars in the pharmaceutical industry. The new course will help health care professionals understand how a biosimilar can be prescribed and dispensed, and how and when an interchangeable product can be substituted for another biological product.

The course is available to health professionals on FDA’s CDERLearn website and can be completed on a tablet for those not at their desktop computer. Click for more information.  

A free continuing education course, FDA Overview of Biosimilar Products, is available to health care providers. The course was designed to help providers strengthen their knowledge and understanding of biosimilars and interchangeable products, which are not the same as generic products.

In February 2015, the FDA approved the first biosimilar in the U.S., and there is growing interest in biosimilars in the pharmaceutical industry. The new course will help health care professionals understand how a biosimilar can be prescribed and dispensed, and how and when an interchangeable product can be substituted for another biological product.

The course is available to health professionals on FDA’s CDERLearn website and can be completed on a tablet for those not at their desktop computer. Click for more information.