As part of its global campaign to raise awareness for rare diseases and the Americans afflicted by them, the FDA has highlighted Epidermolysis Bullosa (EB) and the Jackson Gabriel Silver Foundation. JGSF Director Alex Silver said “We’re honored that the FDA is helping to raise EB awareness and the need for resources to fund cures for all rare diseases”. The Official FDA release can be found is on the JGSF website: http://jgsf.org/news-coverage.html
Official FDA release:
Patient groups, researchers, and health organizations are gearing up for the fourth annual Rare Disease Day, a global campaign that aims to raise awareness of the more than 250 million people worldwide who suffer from rare diseases.
Held on the last day of February—Feb. 29 in leap years and Feb. 28 in other years—Rare Disease Day 2011 will focus on the disparities in access to services and treatment suffered by people with rare diseases.
About 7,000 known rare diseases have been identified around the world. Each disease has unique problems and may have little or no support or treatment. It is estimated that about 80 percent of rare diseases are genetic, and about half of all rare diseases affect children.
Rare disease is defined differently around the globe. In the United States, a disease is rare if it affects fewer than 200,000 people. About 30 million Americans are afflicted with rare diseases.
Among those hoping to raise awareness and find a cure for their own rare diseases are the following families who visited and shared their personal stories with the Food and Drug Administration’s (FDA) Office of Orphan Products Development:
Jackson has recessive dystrophic epidermolysis bullosa, a painful and incurable blistering disorder. In the hospital after his birth, an adhesive bandage put on his heel after a routine test ripped the skin from his foot when the bandage was removed. Jackson’s tongue blistered and his mouth bled when he drank from a bottle. Jackson is now 3-1/2 years old. His hands, knees, heels, and elbows are always covered in bandages to prevent blisters, but Jackson still has scars from repeated blistering and continues to have difficulty eating. To learn more about Jackson and his disease, visit the Jackson Gabriel Silver Foundation (www.jgsf.org). A link to the article on the FDA’s website can be found here: http://www.fda.gov/ForConsumers/ConsumerUpdates/ucm244408.htm
FDA and Rare Diseases
FDA is in a unique position to help those who suffer from rare diseases. The agency’s rare disease initiatives include the following:
• FDA’s Office of Orphan Products Development gives grants to further the development of drugs, biologics (such as vaccines or blood products), medical devices, and medical foods for the treatment of rare diseases. (Medical foods are specially made and processed foods, used under a health care professional’s supervision, to meet a patient’s distinctive nutritional requirements.)
• FDA plays an important role in granting orphan designations and marketing approvals for drugs, biologics, and medical devices to treat rare diseases. Designating a potential product as “orphan” encourages companies to develop that product by giving them financial and other incentives.
• FDA’s Office of New Drugs within the Center for Drug Evaluation and Research established the Rare Diseases Program to assist and support the research, development, regulation, and approval of drug and biologic products for the treatment of rare disorders.
• As countries combine their efforts to spotlight “Rare Diseases and Health Inequalities,” FDA continues to collaborate with international regulatory agencies to address unmet medical needs of patients with rare diseases globally. FDA’s Office of Orphan Products Development and the European Medicines Agency (EMA) work together regularly and have a common application for orphan product designation. (See EMA activities for Rare Disease Day atwww.ema.europa.eu.)
• FDA advocates for rare disease awareness and treatments through work with patients and patient organizations.
The Jackson Gabriel Silver Foundation was founded with the mission to find treatments and cures for Epidermolysis Bullosa (“EB”) a group of incurable and devastating blistering disorders that affect children from birth.
The Silver family started JGSF in 2010 to find a cure for their son, Jackson, and all other children who suffer from this terrible disease.
By funding scientific research, JGSF can help children with EB who lack the critical proteins that act like velcro, binding their layers of skin together. When these children move, their skin slides apart, blisters and shears off, leading to severe pain, disfigurement and, in too many cases, a premature death. Read more about JGSF on their website www.JGSF.org