Organized Research on Exceptionally Rare Diseases Is Possible
Hutchinson-Gilford progeria syndrome is a lethal condition caused by a mutation in a single gene. Children with the condition appear to age prematurely and experience stiffness of joints, growth failures, hair loss, wrinkled skin, and cardiovascular disease among other problems. Most affected children die by their early teens. In 1999, Dr. Leslie Gordon and Dr. Scott Berns, parents of a child diagnosed with the condition, founded the Progeria Research Foundation, which has identified 54 children in 30 countries who are living with the condition. As described by the foundation, the organization began by developing information for patients, families, and researchers; lobbied successfully for legislation mandating that NIH develop a research plan for progeria; organized with NIH the first workshop on the disease in 2001; formed a consortium to identify the causal gene, which occurred in 2002; established, also in 2002, a tissue bank and DNA repository to support research; collaborated in the first study of the natural history of the disease beginning in 2004; and raised funds to help initiate the first clinical trial of a potential treatment that began enrolling patients in 2007.
SOURCE: PRF, 2008.
knowledge that will lead to more and more effective means of prevention, diagnosis, and treatment.
The development of significant drugs of limited commercial value represents an activity in the public interest calling for the combined support of government, industry, voluntary organizations, and others concerned with health care. In our society, it should be possible to provide assistance to small groups of patients as well as the general population, and to encourage research on medical problems of limited scope which may later have great beneficial effect.
Interagency Task Force, 1979, p. 1
More than 30 years ago and after years of discussion and concern, a task force created by what is now the U.S. Department of Health and Human Services (DHHS) issued a call for action in a report on what might be done to promote the development of drugs with limited commercial value. Although a particular focus was drugs aimed at small groups of patients