- Recommendations for the design of small population clinical trials
Simon Day, Anneliene H Jonker, Lilian LP Lau, et al.
Orphanet Journal of Rare Diseases, November 2018, https://doi.org/10.1186/s13023-018-0931-2, access the paper here
- Privacy-Preserving Linkage of Genomic and Clinical Data Sets
Dixie Baker, Bartha M Knoppers, Mark Phillips, et al.
IEEE/ACM Transactions on Computational Biology and Bioinformatics, July 2018, doi: 10.1109/TCBB.2018.2855125, access the abstract here
- Responsible sharing of biomedical data and biospecimens via the “Automatable Discovery and Access Matrix” (ADA-M)
J Patrick Wooley, Emily Kirby, Josh Leslie, et al.
NPJ Genomic Medicine, July 2018, doi: 10.1038/s41525-018-0057-4, access the abstract here
- Addressing challenges in the diagnosis and treatment of rare genetic diseases
Kym M. Boycott and Diego Ardigo.
Nature Reviews: Drugs Discovery, March 2018, doi: 10.1038/nrd.2017.246, access the abstract here
- A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
Christine M Cutillo, Christopher P Austin and Stephen C Groft .
Rare Diseases Epidemiology: Update and Overview, December 2017, doi: 10.1007/978-3-319-67144-4_20, access the abstract here
- The International Rare Diseases Research Consortium: policies and guidelines to maximize impact
Hanns Lochmüller, Josep Torrent i Farnell, Yann Le Cam, et al.
European Journal of Human Genetics, November 2017, doi: 10.1038/s41431-017-0008-z, access the abstract here
- Measuring what Matters to Rare Disease Patients – Reflections on the work by the IRDiRC Taskforce on Patient-Centered Outcome Measures
Thomas Morel and Stefan J Cano
Orphanet Journal of Rare Diseases, November 2017, doi: 10.1186/s13023-017-0718-x, access the abstract here
- Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective
Christopher P Austin, Christine M Cutillo, Lilian PL Lau, et al.
Clinical and Translational Science, August 2017, doi: 10.1111/cts.12500, access the abstract here
- Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective
Hugh JS Dawkins, Ruxandra Draghia-Akli, Paul Lasko, et al.
Clinical and Translational Science, August 2017, doi: 10.1111/cts.12501, access the abstract here
- Medical research: Next decade’s goals for rare diseases
Christopher P Austin and Hugh JS Dawkins.
Nature, August 2017, doi: 10.1038/548158c, access the abstract here
- The importance of international collaboration for rare diseases research: a European perspective
Daria Julkowska, Christopher P Austin, Christine M Cutillo, et al.
Gene therapy, July 2017 online and September 2017, doi: 10.1038/gt.2017.29, access the abstract here
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Kym M. Boycott, Ana Rath, Jessica X. Chong, et al.
The American Journal of Human Genetics, May 2017, doi: 10.1016/j.ajhg.2017.04.003, access the abstract here
- “IRDiRC Recognized Resources”: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
Hanns Lochmüller, Yann Le Cam, Anneliene H Jonker, et al.
European Journal of Human Genetics, February 2017, doi: 10.1038/ejhg.2016.137, access the abstract here
European Journal of Human Genetics, July 2016, doi: 10.1038/ejhg.2015.236, access the abstract here
- The Matchmaker Exchange: a platform for rare disease gene discovery
Anthony A. Philippakis, Danielle R. Azzariti, Sergi Beltran, et al.
Human Mutation, October 2015, doi: 10.1002/humu.22858, access the abstract here
The members of the International Rare Disease Research Consortium’s (IRDiRC) Therapies Scientific Committee (TSC) have discussed and agreed on a specific set of recommendations to guide policies and funding strategies so as to reach its original goal of 200 new therapies by 2020, based on IRDiRC Policies & Guidelines which were adopted in April 2013. They focus on the improvement of guidelines for the clinical development of orphan drugs; the alignment of scientific and regulatory guidance and the enhancement of the continuous data collection and assessment all along the life cycle of therapy.
- The Task Force working on Patient-Centered Outcome Measures (PCOM) has published the post-workshop report and its recommendations. This report is available for consultation.
- The Task Force working on Small Patient Clinical Trial (SPCT) has published the post-workshop report and its recommendations. This report is available for consultation.