Sandra Nestler-Parr1, Daria Korchagina2, Mondher Toumi3, Chris L Pashos4, Christopher Blanchette5, Elizabeth Molsen6, Thomas Morel7, Steven Simoens7, Zoltán Kaló8, Ruediger Gatermann9, William Redekop10. 1. Rare Access Ltd., Leamington Spa, England, UK. 2. Mental Health and Public Health Unit (Inserm U669), University of Paris-Sud, Paris, France. Electronic address: dko@creativ-ceutical.com. 3. Public Health and Chronic Disease Laboratory, Aix-Marseille University, Marseille, France. 4. Global Outcomes and Epidemiology Research, Takeda Pharmaceuticals International, Inc., Cambridge, MA, USA. 5. College of Health and Human Services, University of North Carolina at Charlotte, Charlotte, NC, USA. 6. Scientific & Health Policy Initiatives, ISPOR, Lawrenceville, NJ, USA. 7. KU Leuven Department of Pharmaceutical and Pharmacological Sciences, Leuven, Belgium. 8. Department of Health Policy and Health Economics, Eötvös Loránd University (ELTE), Budapest, Hungary; Syreon Research Institute, Budapest, Hungary. 9. Healthcare Policy and External Affairs Europe, CSL Behring, Biotherapies for Life, Marburg, Germany. 10. Health Technology Assessment, Erasmus University, Rotterdam, The Netherlands.
Abstract
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.
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.
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