Emphasis on Research of Rare Diseases and Conditions. Recommendation:
The NIH should continually highlight the significance and importance of clinical research to medicine and health and emphasize that an investigator might conduct basic, clinical, or translational research dedicated to a single rare disorder or a group of related rare disorders over a lifetime career.
Resources for Training Programs. Recommendation: Resources currently available for specific training programs should highlight the opportunities in rare diseases research.
Impact of Managed Care on Clinical Research. Recommendation: The ORD should participate in the NIH panel on managed care and clinical research to identify financial barriers to clinical research.
The Peer Review Process. Recommendation: Special emphasis should be placed on recruiting scientists experienced in specific rare diseases or conditions to participate in the review of grant applications, onsite-visit teams, and as active participants in advisory council proceedings. The ORD and the Center for Scientific Review at NIH should make special efforts to recruit qualified academic scientists in these areas to participate in the grant review process.
Membership on Advisory Councils. Recommendation: Representatives from voluntary patient support groups should be actively recruited to serve as members of advisory councils at the NIH.
Patient Participation in Clinical Research Travel to the Research Site. Recommendation: The NIH should provide sufficient resources for travel expenses to patients participating in rare diseases research. The NIH should make information readily available about sources of air travel to research and treatment sites.
Scientific Workshops and Symposia. Recommendation: The NIH and the ORD should expand existing programs to provide support for scientific workshops and symposia to identify research opportunities and to stimulate research in rare diseases and conditions.
Patient Privacy. Recommendation: Privacy and confidentiality must be maintained in all aspects of participation in clinical research studies, genetic testing and counseling services, and treatment programs.
UTILIZING RESEARCH RESOURCES
- Availability of Research Resources. Recommendation: The NIH should emphasize the availability of research resources supported by the Institutes and Centers of the NIH. A centralized information database containing research resources should be developed and made available to research investigators, physicians and patients for their use.
- Scientific Materials, Animal Models and Data Dissemination. Recommendation: The NIH should develop a program to subsidize and facilitate the development and distribution of reagents, animal models including "knock out mice" for rare genetic diseases, and materials for research on rare diseases.
- Access to Patented Genetic Materials and the Patent Process. Recommendation: The appropriate organization(s) at the NIH and elsewhere should investigate and evaluate the effect on rare diseases research of patents on genetic material. If flaws exist in the current system, they should be addressed by the appropriate Federal organization.
- The General Clinical Research Centers (GCRC) Program. Recommendation: The panel considers the continued operation of the GCRC program as an essential component of research in the United States, especially for genetic disorders and inborn errors of metabolism. Health care providers and the public should have ready access to information on planned and ongoing clinical research studies conducted at the NIH supported GCRCs.
COORDINATION OF RARE DISEASES RESEARCH AND DEVELOPMENT ACTIVITIES
- Advisory Group on Rare Diseases Research. Recommendation: The NIH should establish an advisory group to the Director, ORD, to provide recommendations for program activities and to serve as a public forum to discuss needs and issues of the rare diseases community.
- Establish a Permanent Presence for the Office of Rare Diseases at the National Institutes of Health. Recommendation: The NIH should review the existing mechanisms to establish a permanent presence for the ORD and its activities at the NIH.
- The Orphan Products Board and the Food and Drug Administration. Recommendation: The Orphan Products Board (OPB) of the DHHS should develop procedures to solicit advice from the rare diseases community.
IDENTIFYING EMERGING OPPORTUNITIES IN RARE DISEASES RESEARCH
- Specialized Centers of Research and Diagnosis of Rare Diseases. Recommendation: NIH should support the establishment of Specialized Research and Diagnostic Centers of Excellence for Rare Diseases to stimulate research and aid in the diagnosis of rare diseases. Specialized Research and Diagnostic Centers of Excellence for Rare Diseases should be established on a graduated basis starting with ten regional centers the first year with incremental increases of ten centers per year until 40 research centers of excellence are established.
- Small Business Innovative Research/Small Business Technology Transfer (SBIR/STTR) Programs. Recommendation: The NIH should emphasize the need for research advances and products for the prevention, diagnosis and treatment of rare diseases in SBIR/STTR publications and announcements.
- Gaining Access to Reliable Information. Recommendation: The NIH and Principal Investigators should update the Computer Retrieval of Information on Scientific Projects (CRISP) summary abstracts of active grants, contracts and cooperative agreements to include changes in research direction or protocols. The term "rare disease" should be included in the CRISP thesaurus vocabulary as an identifier for research projects.
- Gene Vector Development. Recommendation: The FDA, NIH, the research community and the pharmaceutical and biotechnology industries should collaborate to facilitate the development of gene vectors to be used for all rare genetic diseases.
Note: A complete copy of the report may be accessed through the Office of Rare Diseases web site at http://www.rarediseases.info.nih.gov/ord
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