Life Science Community Comes Together to Support Rare Disease Day

Sanofi Scientist

Rett syndrome. Batten disease. Fragile X syndrome. Laband syndrome. Williams syndrome. Pompe disease.

Each of these has one thing in common, they are all classified as rare diseases. Today, on this 11th World Rare Disease Day, life science companies, organization and activists have come together to raise awareness about these diseases and the needs of therapies for patients.

Called orphan diseases in the United States, the U.S. Food and Drug Administration defines a rare disease as a disorder that affects fewer than 200,000 people in the United States. In Europe, the definition of rare disease is a disorder that affects one in 2,000 people. It is estimated that about one in 10 Americans lives with a rare disease, about 30 million people. Of those, about half are children. There are more than 7,000 known rare diseases, but so far there are only about 450 FDA-approved medical treatments.  

Multiple companies have carved out a niche in the rare disease space, such as Amicus PTC Therapeutics, Vertex Pharmaceuticals, Biogen and Genzyme and its founder Henri Termeer, a rare disease research champion who died last year.

This morning the rare disease community, including biopharma companies, shared their support for World Rare Disease Day.  Robert I. Blum, chief executive officer of Bay Area-based Cytokinetics, touted the importance of the day for rare diseases and called for light to shine on innovations in the space. Blum pointed to the work his company is doing with reldesemtiv, its next-generation fast skeletal muscle activator used in the treatment of amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy.

BioMarin, which last year won FDA approval for Brineura, a treatment for ultrarare CLN2 disease, announced the RARE scholars program, an annual scholarship for students living with rare disease. The new scholarship program will distribute up to $20,000 each year in June, awarding $5,000 for undergraduate four-year or graduate studies or $2,500 for two-year or vocational-technical studies, BioMarin said.

"This scholarship is important because patients with rare diseases make essential contributions to our world, and supporting the potential of these remarkable young people is a privilege," said Jean-Jacques Bienaimé, chairman and CEO of BioMarin said in a statement.  "We are inspired by our patients, who are often children, and are proud to contribute to the education of people with rare diseases."

This morning the FDA announced a collaboration with the National Organization for Rare Disorders (NORD) to form a pilot program that will assist FDA medical reviewers in better understanding rare disease patient experiences. Under the pilot patient engagement activity, the FDA and NORD said the entities will work together to “identify patient community representatives” and coordinate listening sessions where “patients can share their experiences with the FDA review division staff.”

This week the FDA launched a new rare disease section on its website as part of Commissioner Scott Gottlieb’s commitment to the rare disease community.

“Despite our successes, there are still no treatments for the vast proportion of rare diseases or conditions,” Gottlieb said in a statement. “FDA is committed to do what we can to stimulate the development of more products by improving the consistency and efficiency of our reviews, streamlining our processes and supporting rare disease research.”

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