There are more than 6,8001 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. They take a disproportionate share of our health care dollars because of their complexity and the expense of, in most cases, inadequate therapy.
Despite their rarity, many fundamental advances in medicine have come from the study of rare diseases and these have benefited common diseases. As an example, the study of the human genome began with identification of rare diseases (muscular dystrophy being the first) and epigenetics was first identified in rare disorders. 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 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 help attract trainees and junior faculty into this important field.
The RDCRN was established by the Office of Rare Diseases Research (ORDR), which is now a part of the National Center for Advancing Translational Sciences (NCATS), in 2003 to support regional centers of excellence for clinical research into diagnosis, prevention, control, and treatment methods for rare diseases. Since its inception, investigators have made remarkable progress in every aspects of clinical research of rare diseases being studied in the Network. ORDR/NCATS and collaborating institute centers have continued to fund outstanding continuing and new clinical research consortia which will strengthen the ongoing clinical research in rare diseases.
The RDCRN consists of twenty-two (22) Rare Diseases Clinical Research Network Consortia, in addition to a Data Management and Coordinating Center, and studies approximately 200 rare diseases at over 275 clinical centers world-wide with several hundred investigators. Each consortium is performing longitudinal natural history studies, conducting clinical trials of new medications, often in collaboration with industry sponsors, collaborating with patient advocacy groups, and training future leaders in the field. There are over 110 clinical studies actively enrolling patients as of June 2017.
Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: