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Rare Diseases and Orphan Products: Accelerating Research and Development
treatments. Although this report focuses on research and development and not the movement of effective treatments or preventive or diagnostic measures into practice, that movement is crucial if the benefits of research are to be realized in the lives of patients and their families.
One common mission of advocacy organizations is to educate clinicians about rare conditions as a means of improving the provision of care, including the appropriate consideration of new diagnostic and therapeutic options. Depending on the condition and the organization, other strategies may include the development of clinical practice guidelines, quality improvement and assessment programs (including incentives for meeting quality standards), and continuing medical education and consumer education activities.
This section briefly discusses just a few issues in health care delivery that may affect the availability or quality of care provided to people with rare conditions. It does not examine the development and use of clinical practice guidelines, the challenges of emergency care, the role of electronic health records or information systems, or the cost or financing of services. Chapter 6, however, examines health plan coverage and reimbursement of orphan drugs, and Chapter 7 examines coverage and reimbursement of devices marketed for small populations under a Humanitarian Device Exemption.
Specialized Centers for Rare Diseases
For both common and rare diseases, the creation of medical centers or medical practices specializing in the diagnosis and treatment of a disease is a frequent strategy to improve the quality and consistency of care. For rare diseases, specialized centers can offer consultations to outside clinicians, develop care guidelines based on available evidence and experience, and serve as an established referral site in emergencies or other situations in which local resources are insufficient. These centers can also provide a base for research.
One of the early priorities of the Cystic Fibrosis Foundation (CFF) was the establishment of a network of accredited care centers. From two centers at the outset in 1961, CFF now accredits 115 care centers as well as 95 adult care programs (CFF, 2008, undatedb). The foundation has also designated 10 centers as basic research centers and more than 70 as sites for its Therapeutics Development Network (CFF, undatedb).
In 1972, Congress authorized the creation of comprehensive research and treatment centers for sickle cell disease. These centers were subsequently established by what is now the National Heart, Lung, and Blood Institute. In 2007, the American Society of Hematology recommended a number of revisions in the program “to ensure that clinical research is conducted in