The Genetic and Rare Disease Information Center (GARD), part of NCATS, NIH, and Orphanet, an “IRDiRC Recommended” resource, have signed a collaboration agreement. This agreement will portray information from Orphanet to the GARD website , and vice versa, GARD information on the Orphanet site whenever information about a specific disease is missing. Information from Orphan’s « identity card » of rare diseases will also become visible on the GARD website. In order to do so, an alignment of the specific diseases of the respective sites is being performed. Both rare disease portals will thus gain a wealth of information from this mutual exchange, for the benefit of patients and doctors overseas.
The International Rare Disease Research Consortium (IRDiRC) was started in 2010 with the objective to accelerate medical breakthroughs for people affected by rare diseases. Initially conceived as a consortium of rare disease research funders following a joint discussion of the European Commission and the US National Institutes of Health, IRDiRC has experienced substantial growth in the number and diversity of its members over the last five years. Current Consortium members include funding agencies, industry, institutes, ministries and patient organizations.
For the Consortium to continue to function efficiently, IRDiRC governance needs to adapt to the growth in size and diversity of its members and functions. The first of these adaptations is the renaming of IRDiRC’s largest representative body, formerly the Executive Committee, as the Consortium Assembly. The new name more accurately reflects this group’s function as a gathering of all the consortium’s members, focused on information exchange and efforts to develop and coordinate scientific and policy efforts that will advance IRDiRC goals.
Authors of an article in Nature Reviews Drug Discovery analyze the orphan drug pipeline in Europe, specifically investigating active orphan designations that have not yet reached market authorization. The sample of orphan designations that was investigated spread across therapeutic areas, with oncology being the most common therapeutic area, followed by neurology and hematology. Orphan designations has been discontinued for a small percentage (17%); for active orphan designations, most (63%) has reached clinical development, with 35% at Phase I, 48% at Phase II, and 17% at Phase III. The authors conclude that by applying the published non-orphan specific success rates per phase to their sample of orphan designations, approximately 90 orphan designations will reach market authorization in the future, confirming the success of the European regulatory framework.
By solving their first case, providing a confirmed diagnosis for a seven year old girl, Lily, the Government of Western Australia recently has successfully launched its Undiagnosed Diseases Program. This program, a first for Australia, has been established to find answers for children with long-standing, often very complex, disorders that are undiagnosed despite intensive efforts. Diseases in the Undiagnosed Disease Program are often rare diseases, and one child a month is expected to be given a place in the program.
The program has been modeled after other Undiagnosed Disease Program, such as the US program, that started in 2008 and has a roughly 25 percent discovery rate, and also discovered various new and rare genetic disorders. The program, directed by Dr Gareth Baynam, member of the Diagnostic Scientific Committee, is expected to draw on a coordinated international network of expert doctors and researchers.
The Eight European Conference on Rare Diseases and Orphan Products (ECRD 2016) was held in Edinburgh, United Kingdom, from May 26 to May 28. ECRD 2016 brought together over 80 speakers and more than 700 participants, covering six themes: from the latest research and developments in new treatments, to innovations in healthcare, social care and support at the European, national and regional levels. This edition was linked by the common theme “Game Changers,” and was aimed at changing the the future of rare diseases together. Numerous sessions aimed to contribute to these changes: in the domain of research; diagnosis; drug development, authorization and access; care provision; social policy; and global society.
Several IRDiRC Scientific and Executive Committee members contributed actively to the meeting and participated through session presentations and panel discussions, highlighting the contributions IRDiRC has made over the last couple of years. In particular, the session dedicated to “boosting rare diseases in a global collaborative research environment” gave a comprehensive overview of IRDiRC’s development so far, and showed glimpses of what is yet to come. The recommendations resulting from IRDiRC Task Forces: Patient-Centered Outcome Measures and Small Population Clinical Trials were also presented.