Challenges in Research and Health Technology Assessment of Rare Disease Technologies: Report of the ISPOR Rare Disease Special Interest Group

Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
Sandra Nestler-ParrWilliam Redekop

Abstract

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. 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. 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. 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 re...Continue Reading

Citations

Dec 1, 2019·Genes·Sandra BrasilAnd Gonçalo Valadão
May 6, 2020·Ophthalmic Genetics·Aude Roborel de ClimensCatherine Brun-Strang
Nov 7, 2018·Orphanet Journal of Rare Diseases·Márta SzegediMária Judit Molnár
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May 19, 2019·Journal for Immunotherapy of Cancer·Howard L KaufmanWendy K D Selig
Dec 12, 2020·Ophthalmic Genetics·Aude Roborel de ClimensCatherine Brun-Strang
Jan 10, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Meghan C HalleyHolly K Tabor
Mar 28, 2021·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·Heather SmithAnne Boney
May 12, 2020·Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research·Zoë P MackayUNKNOWN BabySeq Project Team
May 29, 2021·International Journal of Technology Assessment in Health Care·Amanda WhittalKaren Facey
Jun 1, 2021·Frontiers in Pharmacology·Alessandra BlondaSteven Simoens
Aug 13, 2021·Journal of Human Lactation : Official Journal of International Lactation Consultant Association·Renee L KamLisa H Amir

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