Challenges in Research and Health Technology Assessment of Rare Disease Technologies: Report of the ISPOR Rare Disease Special Interest Group.
BACKGROUND
Successful development of new treatments for rare diseases (RDs) and their sustainable patient access require overcoming a series of challenges related to research and health technology assessment (HTA). These impediments, which may be unique to RDs or also apply to common diseases but are particularly pertinent in RDs, are diverse and interrelated.


OBJECTIVE
To develop for the first time a catalog of primary impediments to RD research and HTA, and to describe the cause and effect of individual challenges.


METHODS
Challenges were identified by an international 22-person expert working group and qualitative outreach to colleagues with relevant expertise. A broad range of stakeholder perspectives is represented. Draft results were presented at annual European and North American International Society for Pharmacoeconomics and Outcomes Research (ISPOR) congresses, and written comments were received by the 385-strong ISPOR Rare Disease Review Group from two rounds of review. Findings were refined and confirmed via targeted literature search.


RESULTS
Research-related challenges linked to the low prevalence of RDs were categorized into those pertaining to disease recognition and diagnosis, evaluation of treatment effect, and patient recruitment for clinical research. HTA-related challenges were classified into issues relating to the lack of a tailored HTA method for RD treatments and uncertainty for HTA agencies and health care payers.


CONCLUSIONS
Identifying and highlighting diverse, but interrelated, key challenges in RD research and HTA is an essential first step toward developing implementable and sustainable solutions. A collaborative multistakeholder effort is required to enable faster and less costly development of safe, efficacious, and appropriate new RD therapies that offer value for money.
['Nestler-Parr|Sandra|S|', 'Korchagina|Daria|D|', 'Toumi|Mondher|M|', 'Pashos|Chris L|CL|', 'Blanchette|Christopher|C|', 'Molsen|Elizabeth|E|', 'Morel|Thomas|T|', 'Simoens|Steven|S|', 'Kaló|Zoltán|Z|', 'Gatermann|Ruediger|R|', 'Redekop|William|W|']
D035843:Biomedical Research D003245:Consensus Development Conferences as Topic D003362:Cost-Benefit Analysis D006291:Health Policy D006801:Humans D035583:Rare Diseases D013673:Technology Assessment, Biomedical
health technology assessment rare diseases cost-effectiveness health policy orphan designation