Trevor Richter1, Sandra Nestler-Parr2, Robert Babela3, Zeba M Khan4, Theresa Tesoro5, Elizabeth Molsen5, Dyfrig A Hughes6. 1. Canadian Agency for Drugs & Technologies in Health (CADTH), Ottawa, Ontario, Canada. Electronic address: trevorr@cadth.ca. 2. Roboleo & Co, York, UK. 3. St. Elizabeth University, Bratislava, Slovakia. 4. Celgene Corporation, Summit, NJ, USA. 5. International Society for Pharmacoeconomics and Outcomes Research (ISPOR), South Lawrenceville, NJ, USA. 6. Center for Health Economics and Medicines Evaluation, Bangor University, Wales, UK.
Abstract
BACKGROUND: At present, there is no universal definition of rare disease. OBJECTIVE: To provide an overview of rare disease definitions currently used globally. METHODS: We systematically searched for definitions related to rare disease from organizations in 32 international jurisdictions. Descriptive statistics of definitions were generated and prevalence thresholds were calculated. RESULTS: We identified 296 definitions from 1109 organizations. The terms "rare disease(s)" and "orphan drug(s)" were used most frequently (38% and 27% of the definitions, respectively). Qualitative descriptors such as "life-threatening" were used infrequently. A prevalence threshold was specified in at least one definition in 88% of the jurisdictions. The average prevalence threshold across organizations within individual jurisdictions ranged from 5 to 76 cases/100,000 people. Most jurisdictions (66%) had an average prevalence threshold between 40 and 50 cases/100,000 people, with a global average of 40 cases/100,000 people. Prevalence thresholds used by different organizations within individual jurisdictions varied substantially. Across jurisdictions, umbrella patient organizations had the highest (most liberal) average prevalence threshold (47 cases/100,000 people), whereas private payers had the lowest threshold (18 cases/100,000 people). CONCLUSIONS: Despite variation in the terminology and prevalence thresholds used to define rare diseases among different jurisdictions and organizations, the terms "rare disease" and "orphan drug" are used most widely and the average prevalence threshold is between 40 and 50 cases/100,000 people. These findings highlight the existing diversity among definitions of rare diseases, but suggest that any attempts to harmonize rare disease definitions should focus on standardizing objective criteria such as prevalence thresholds and avoid qualitative descriptors.
BACKGROUND: At present, there is no universal definition of rare disease. OBJECTIVE: To provide an overview of rare disease definitions currently used globally. METHODS: We systematically searched for definitions related to rare disease from organizations in 32 international jurisdictions. Descriptive statistics of definitions were generated and prevalence thresholds were calculated. RESULTS: We identified 296 definitions from 1109 organizations. The terms "rare disease(s)" and "orphan drug(s)" were used most frequently (38% and 27% of the definitions, respectively). Qualitative descriptors such as "life-threatening" were used infrequently. A prevalence threshold was specified in at least one definition in 88% of the jurisdictions. The average prevalence threshold across organizations within individual jurisdictions ranged from 5 to 76 cases/100,000 people. Most jurisdictions (66%) had an average prevalence threshold between 40 and 50 cases/100,000 people, with a global average of 40 cases/100,000 people. Prevalence thresholds used by different organizations within individual jurisdictions varied substantially. Across jurisdictions, umbrella patient organizations had the highest (most liberal) average prevalence threshold (47 cases/100,000 people), whereas private payers had the lowest threshold (18 cases/100,000 people). CONCLUSIONS: Despite variation in the terminology and prevalence thresholds used to define rare diseases among different jurisdictions and organizations, the terms "rare disease" and "orphan drug" are used most widely and the average prevalence threshold is between 40 and 50 cases/100,000 people. These findings highlight the existing diversity among definitions of rare diseases, but suggest that any attempts to harmonize rare disease definitions should focus on standardizing objective criteria such as prevalence thresholds and avoid qualitative descriptors.
Authors: Meaghan Noud; Kristen Hovis; Alexander Gelbard; Nila A Sathe; David F Penson; Irene D Feurer; Melissa L McPheeters; David O Francis Journal: JAMA Otolaryngol Head Neck Surg Date: 2017-08-01 Impact factor: 6.223
Authors: H A Jinnah; Alberto Albanese; Kailash P Bhatia; Francisco Cardoso; Gustavo Da Prat; Tom J de Koning; Alberto J Espay; Victor Fung; Pedro J Garcia-Ruiz; Oscar Gershanik; Joseph Jankovic; Ryuji Kaji; Katya Kotschet; Connie Marras; Janis M Miyasaki; Francesca Morgante; Alexander Munchau; Pramod Kumar Pal; Maria C Rodriguez Oroz; Mayela Rodríguez-Violante; Ludger Schöls; Maria Stamelou; Marina Tijssen; Claudia Uribe Roca; Andres de la Cerda; Emilia M Gatto Journal: Mov Disord Date: 2017-09-01 Impact factor: 10.338