Clinical Research for Rare Diseases: Opportunities, Challenges, and Solutions

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DESCRIPTION (provided by applicant): There are more than 6,000 diseases classified as "rare" (defined as having a prevalence in the United States of <200,000 persons). While individually these entities are uncommon, as a group they are an important cause of chronic illness, disability and premature death in both children and adults. Despite their rarity, many fundamental advances in medicine have come from the study of rare diseases and these have benefited common diseases. Both because of currently inadequate therapy and the potential to assist common as well as rare disorders, the conduct of clinical research in rare diseases is essential. In order to assure the future of this research, the training of the next generation of investigators in this field is important. The NIH Rare Diseases Clinical Research Network (RDCRN, www.RareDiseasesNetwork.org) is the ideal group to sponsor a conference addressing rare disease research methodology that would supplement general training in clinical research and hopefully attract trainees and junior faculty into this important field. This R13 grant proposes to hold a conference entitled "Clinical Research for Rare Diseases: Opportunities, Challenges, and Solutions" that will provide information and resources to trainees and junior faculty that they can directly apply to their work and career development. This proposal has three specific aims: 1) Hold a conference on rare disease research methodology for investigators early in their career; 2) Develop a renewable on-line curriculum for rare disease methodology; 3)Provide support to expand the number of trainees able to attend the research methods conference. The proposed conference format is of a full day program made up of short didactic lectures, each followed by ample time for questions, and panel discussions on focused areas relevant to the attendee's current stage of career and research development. The issues that will be addressed include: 1) recruitment strategies, 2) study design and biostatistics in dealing with small number of subjects, 3) maintaining participant anonymity with rare diseases, 4) use of demographic and registry data, 5) pathways for developing orphan products, and 6) working with patient advocacy groups and with industry. There will also be the opportunity for poster presentations, so that trainees can share with each other and with senior investigators of the RDCRN their current research and receive feedback. The final session will be a dinner with a keynote address given by Dr. Francis Collins, Director of the National Human Genome Research Institute, and a champion of rare disease research. All members of the RDCRN Steering Committee (Consortia PIs, NIH program officials from multiple institutes, and patient advocacy group representatives) will participate in the conference. There will be an evaluation component where participants will fill out a form indicating the level of success in achieving our goals. Finally, the proceedings will be posted on the web and a summary article will be published. If this conference proves successful, we plan on having similar sessions attached to future RDCRC meetings.