On April 6, 2016, three new applications were approved for the “IRDiRC Recommended” label: the TREAT-NMD Advisory Committee for Therapeutics (TACT), the Care and Trial Site Registry (CTSR) and Online Mendelian Inheritance in Man (OMIM).
TACT is a unique multi-disciplinary international group of academic and industrial drug development experts as well as representatives of patient foundations and institutional governmental scientific research centers, who meet twice a year to review and provide guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases with large unmet need.
CTSR is aimed to help the pharmaceutical industry and clinical investigators select trial sites as well as to help to identify potential partners for upcoming research projects. The CTSR provides information relevant to clinical trials in the field of neuromuscular and neurodegenerative diseases and to the assessment of ‘centers of expertise.’ The CTSR collects contact data, patient cohorts, availability of diagnostic tools and equipment, personnel and their clinical trial experience, care settings as well as research and education activities of a site. Funded by the European Union Neuromics project, the CTSR was expanded in 2013 to include neurodegenerative centres and now encompasses data on patient cohorts of 32 rare diseases.
OMIM is a knowledge base of human genes and genetic phenotypes comprised of over 23,000 structured free-text entries and used weekly by 60-100,000 individuals from all over the world. OMIM names new Mendelian diseases and, in general, splits phenotypes on a molecular basis. OMIM is the gold-standard for disease-gene relationships as documented in the literature and meeting criteria described in the first reference below.
IRDiRC Recommended is a quality indicator highlighting tools/ standards/ platforms or guidelines contributing to IRDiRC’s objectives. “IRDiRC Recommended” endorsements are by the IRDiRC Scientific Committees. It focuses on key resources for research communities to accelerate clinical translation. More information about this initiative can be found here.