Following third International Rare Disease Research Consortium workshop, nominations open for the three global Scientific Committees
The third workshop of the International Rare Disease Research Consortium (IRDiRC) was held in Montreal, Canada on 8-9 October 2011, following two previous workshops in Iceland and the USA. The workshop, hosted by the Canadian Institutes for Health Research and Genome Canada and co-organised with the European Commission and the US National Institutes of Health, came just before the 12th International Congress of Human Genetics; making Montreal the place to be in October.
For the third IRDiRC meeting, some 100 international participants representing public and private funding organisations, scientists, regulators, industry, and patient groups were onboard, working together to develop common scientific and policy frameworks that will guide the activities of the participating IRDiRC members. Identifying priority research areas was a principal topic, as well as addressing the regulatory challenges in an international context. Initial goals put forward by the IRDiRC founders include 200 new treatments for rare diseases by the year 2020 and have a diagnosis available for most, if not all, rare diseases. A series of Round Table presentations provided an update of the current and planned actions by the funding agencies committed to IRDiRC.
Nominations for the three IRDiRC Scientific Committees now open
The meeting was also the occasion to discuss establishing a governance structure. Nominations for the three IRDiRC Scientific Committees, encompassing Diagnostics (including sequencing and characterization), Therapies (including pre-clinical and clinical development), and Horizontal Aspects (including ontologies, national history, biobanking, registries etc) are now open. The Scientific Committees will advise the Executive Committee on research priorities for future R&D investments and on progress made of funded research. Specifically, the Scientific Committees will:
- Act as scientific coordinating bodies
- Propose research priorities for consideration by the Executive Committee
- Propose policies and guidelines for adoption by the Executive Committee
- Assess progress made by the Working Groups (i.e. projects funded)
- Address arising issues of scientific nature
- Encourage exchange of protocols and best practices, and agree on standard operating procedures, quality standards, etc
The deadline for submitting a nomination is 15 December 2011 (Learn more). An Interim IRDiRC Executive Committee meeting is scheduled for January 2012. To be held in Belgium, appointing the members to the IRDiRC Scientific Committees will be a priority at this meeting.
The official report of the third IRDiRC workshop will be released soon. In the meantime, the full agenda, list of participants, and presentations can be viewed on the European Commission’s DG Research and Innovation website.
An informative new article published in the review Pathology outlines Australia’s newly implemented framework for regulating cellular therapies. The country’s Therapeutic Goods Administration in May established a framework for regulating biological-based therapies employing a risk-based classification strategy that requires more comprehensive oversight for more complex treatments. One contentious aspect of the new framework has been the associated costs. Particularly worrying is the lack of an incentive-based mechanism for orphan drugs that would waive fees. As the authors point out, “…the orphan drug scheme which provides fee relief available to sponsors in the US and Europe, and indeed to Australian sponsors producing treatments based upon medicinals, is definitely not available for cell- or tissue-based treatments in Australia”. This apparent oversight is arousing worries that manufacturers of biologics-based treatments will turn to the USA or Europe to develop their products. The authors remark that, “The absence of an orphan scheme for biologicals is astonishing policy as we can be confident that with the small commercial base of these companies many orphan indications will not be supported in Australia and patients will have to seek relief for their diseases in other countries”. 
In the USA, the National Institutes of Health’s (NIH) Therapeutics for Rare and Neglected Diseases (TRND) programme has announced six new projects to receive funding. The TRND programme takes existing processes for drug development in the pharmaceutical industry as its framework, seeking to improve upon these processes and capitalise on cooperation with academic researchers working on rare and neglected conditions. Created specifically to facilitate the development of new drugs for rare and neglected diseases by bridging the gap in expertise and resources that frequently exists between basic research and the development and testing of new treatments in human subjects, the TRND programme gives the preclinical stage of drug development a much needed boost to get rare or neglected disease treatment development off the ground. The new projects include:
The Specialised Healthcare Alliance (SHCA) is an English coalition of 68 patient-related organisations supported by ten corporate members which campaigns on behalf of people with rare and complex medical conditions. As was reported in the 
A new study published in the Journal of Clinical Epidemiology looks at the issue of central registry data quality in relation to rare diseases. For the purpose of performing a comprehensive national craniopharyngioma survey covering a recent 20-year period, the authors sought to identify craniopharyngioma diagnosed in Denmark during the period 1985-2004. Because no craniopharyngioma-specific clinical database exists in Denmark, the authors evaluated the sensitivity and validity of a Danish hospital discharge registry for identifying craniopharyngioma patients diagnosed, and also studied the quality of seven craniopharyngioma related diagnosis codes, and tested several combined search strategies, which might be of use in future studies of other rare diseases. The Danish National Patient Registry (NPR), which has existed since 1977, collects systematic information on diagnoses, surgical treatment, and various demographical parameters on all patients admitted to hospital or similar institutions in Denmark. This study found that while the Danish NPR “was a sensitive data source for identifying craniopharyngioma patients … less than one-third of patients identified … had in fact suffered from a craniopharyngioma”. Certain International Classification of Diseases (ICD) codes showed high sensitivities, whereas the positive predictive values were considerably lower. The authors suggest that “Improved validity of the registry output at the cost of acceptable reductions of sensitivity could be obtained by carefully redesigning the search strategy. …[] registration with the best ICD codes, by relevant highly specialized hospital departments, and of neurosurgic procedures are useful search criteria that may be combined to form such successful composite search strategies”. 
