Focus Attention on Rare Diseases
Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year and this year will be observed February 29, 2012.
Rare Disease Day at NIH
On February 29, 2012, the National Institutes of Health (NIH) will celebrate the fifth annual Rare Disease Day with a day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, other NIH Institutes and Centers; the Food and Drug Administration’s Office of Orphan Product Development; the National Organization for Rare Disorders; and the Genetic Alliance. Rare Disease Day at NIH (RDD@NIH) will be held in the Clinical Center’s Masur Auditorium (Building 10) from 8:30 a.m. to 5:00 p.m. Attendance is free and open to the public. (source: http://rarediseases.info.nih.gov/RareDiseaseDay.aspx)
Meeting: FDA Rare Disease Patient Advocacy Day
FDA’s Office of Orphan Products Development is announcing the following meeting: FDA Rare Disease Patient Advocacy Day. This meeting is intended to enhance the awareness of the rare disease community as to FDA’s roles and responsibilities in the development of products (drugs, biological products, and devices) intended for the diagnosis, prevention, and/or treatment of rare diseases or conditions. The goal of this meeting is to engage and educate the rare disease community on the FDA regulatory processes.
The meeting will be held on March 1, 2012, from 8:30 a.m. to 5 p.m. at FDA White Oak Campus in Silver Spring, MD.
Federal Register Notice: www.gpo.gov/fdsys/pkg/FR-2011-12-20/pdf/2011-32469.pdf
About Rare Diseases
The National Institutes of Health Office of Rare Diseases Research (ORDR) maintains a list of rare (orphan) diseases, which are generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States. Listed rare diseases affecting the functional GI and motility disorders community include:
- Cyclic vomiting syndrome (CVS)
- Hirschsprung’s disease
- Intestinal pseudo-obstruction
- Levator syndrome
- Rumination disorder
- Short bowel syndrome
Advancing Treatments for Rare Diseases
The Congressional Rare Disease Caucus held a briefing in November 2011 to educate the staff of Members of Congress on the experiences of rare disease patients and their families, as well as rare disease treatment development.
Dr. Tim Cote, Chief Medical Officer of the National Organization for Rare Disorders (NORD) hosted the briefing. In his opening remarks, he discussed how orphan drug products are transformative for patients of rare diseases, and that they present a public health opportunity. The speakers that followed continued to highlight the importance of increasing the speed of achieving Food and Drug Administration (FDA) approval, and increasing incentives for pharmaceutical companies to invest in rare disease treatment research. Below is a list of the speakers followed by a summary of their remarks.
Ann Pariser, M.D., Associate Director for Rare Diseases, FDA, Center for Drug Evaluation and Research (CDER), Office of New Drugs, Rare Diseases Program – Outlined FDA initiatives to reduce the time it takes for an FDA approval for rare disease treatments, and demonstrated that as a result, more orphan drug products have been approved. These initiatives include:
- Fast track designation
- Accelerated approval
- Priority review
- Expanded access
- Critical Path Initiative orphan drug designation
- CDER Rare Disease Program (in development)
Steve Groft, Pharm.D. – Director, Office of Rare Diseases Research (ORDR), National Institutes of Health – discussed the Rare Disease Clinical Research Network which has increased the number of researchers with experience collaborating in multi-center and international research projects.
Parents of children suffering from rare diseases discussed their experiences with treating their children for a rare disease, including developing their own molecular compounds because the medication wasn’t available due to lack of investment by pharmaceutical companies. They also discussed their ideas for increasing the speed of FDA approvals for rare disease drugs, such as establishing an Accelerated Approval process for Ultra-Rare Disease Treatments.