Biennial and Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2004

Executive Summary1

The Rare Diseases Act of 2002, P.L. 107-280, instructs the Director of the Office of Rare Diseases, National Institutes of Health (NIH), to “biennially prepare a report that describes the research and education activities on rare diseases being conducted or supported through the national research institutes and centers, and that identifies particular projects or types of projects that should in the future be conducted or supported by the national research institutes and centers or other entities in the field of research on rare diseases.” This first biennial report presents the contributions and research advances of the fiscal year (FY) 2004 NIH extramural and intramural research programs at the Institutes and Centers and of the Office of Rare Diseases (ORD) and other research offices in the Office of the Director of NIH as well as research plans for the near future.

Responses from the individual Institutes and Centers (ICs) provide an overview of ongoing rare diseases research activities, recent scientific advances in rare diseases research, new or planned rare diseases research initiatives, and rare disease-related activities such as scientific workshops and symposia, public and professional education and training, information dissemination, and other rare diseases research-related activities. Many advances presented are the direct result of years of rare diseases research sponsored by NIH in the past. Patients with rare diseases continue to benefit from the treatment applications realized by the emphasis NIH places on both basic and clinical intramural and extramural research programs. Many of the rare diseases activities conducted at the NIH Clinical Center have been reported by the Institutes/Centers (ICs) in their respective sections of the report. For example, the Bench-to-Bedside research program at the Clinical Center was reported by the Office of Rare Diseases. The Fogarty International Center (FIC) and the National Center on Minority Health and Health Disparities (NCMHD) did not have any rare diseases research activity to report.

This report uses the definition of rare diseases as set forth in the Orphan Drug Act and the Rare Diseases Act of 2002 as a disease or condition with a prevalence of fewer than 200,000 people in the United States. Prevalence refers to the number of individuals alive with the disease within a geographic parameter, i.e., the United States. There are more than 6,000 known rare diseases in the United States (see the rare diseases terms at Rare diseases are thought to affect approximately 25 million people in the United States. (Rare Diseases Act of 2002, Section 2, Findings.)

Activities undertaken in FY 2004 by the NIH ICs and the ORD included:

  • Establishing a Trans-NIH Rare Diseases Research Working Group. For the coming year, the working group is developing plans for a conference on rare diseases biospecimen collection, storage, and delivery issues that impede research on rare diseases. Following the conference, the working group will develop an implementation plan. Other issues under review include the development of genetic tests by the ORD intramural programs and the NIH extramural research programs and an NIH-supported international conference on amyloidosis research.
  • Expanding the ORD Rare Diseases Clinical Research Network by increasing the number of rare diseases clinical research consortia from 7 to 10. The network is described in detail later in this report. The network is cosponsored by the National Center for Research Resources (NCRR), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institute of Child Health and Human Development (NICHD), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Heart, Lung, and Blood Institute (NHLBI), and National Institute of Neurological Disorders and Stroke (NINDS). The network consists of more than 70 sites and 30 patient advocacy groups that support research on almost 50 rare diseases with one central data technology and coordination center. At this time, 33 clinical protocols are under development and are approaching review by the Data Safety and Monitoring Board (DSMB) and implementation. In FY 2004, ORD added support for pilot studies and demonstration projects available to each consortium. Activities cosponsored in FY 2004 by the NIH ICs and ORD include the following new research activities:
    • Publication of a Program Announcement by the NHLBI and the ORD for pilot studies, demonstration projects, and/or exploratory research studies in rare diseases;
    • Development of a Request for Applications by the National Human Genome Research Institute (NHGRI), ORD, and National Institute on Drug Abuse (NIDA) for research training grants in genomics and proteomics;
    • Development of a Program Announcement by the NINDS and ORD to improve treatment outcomes for lysosomal storage disorders;
    • Publication of an NIH-wide Program Announcement to support grants to provide support for the planning of Phase III clinical trials;
    • Support by the ORD of the NIDDK Biliary Atresia Research Consortium, which contains nine pediatric liver disease centers;
    • Support of the ORD/NHGRI rare diseases intramural research program that promotes fellowship training in the areas of clinical and biochemical genetics focusing on rare diseases; fosters protocol-based initiatives into rare diseases not currently investigated in the intramural program; assists in the investigation of select, unique disorders of unknown etiology; and provides overall research support for diagnostics including genetic testing and therapeutics of rare diseases;
    • Support of Bench-to-Bedside Grants in the NIH Clinical Center. With matching support from the ICs, ORD increased the number of grants from 5 to 20 grants annually;
    • Cosponsorship by the ORD with NIH ICs of 87 scientific conferences in FY 2004 and, to date in FY 2005, 58 scientific conferences, the foci of which are listed later in this report. The ORD scientific conferences program continues to establish research priorities; develop program announcements; establish diagnostic and monitoring criteria; initiate the development of animal models; support development of patient and tissue registries, research protocols, and collaborative research arrangements; and disseminate workshop results through publications and other means;
    • Expanding by ORD together with the NHGRI the reach of the Genetic and Rare Diseases Information Center by providing services in Spanish as well as English to bring information about rare diseases to patients and their families, healthcare providers, researchers, and the public and implementing a user-friendly, Web-based application.

Since its inception in September 2001, the information center has responded with comprehensive, individualized responses to more than 10,000 inquiries about more than 3,000 different rare and genetic diseases.

1In the text of this report, common diseases may be included when particular subpopulations are rare or treatments are under development that are not expected to be financially recoverable.


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Last Reviewed: July 22, 2005