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Rare Disease Terminology & Definitions - A Systematic Global Review:
Report of the ISPOR Rare Disease Special Interest Group

Rare Disease Terminology & Definitions - A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

The citation for this report is:
Richter T, Nestler-Parr S, Babela R., et al. Rare Disease Terminology & Definitions - A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. Value Health 2015; 18:906-14.

Developed by the ISPOR Rare Disease Special Interest Group

Co-Chair:

Dyfrig Hughes, PhD, MSc, Professor, Centre for Health Economics and Medicines Evaluation, Bangor University, Wales, UK
Zeba M. Khan, RPh, PhD, Vice President, Strategic Market Access & Policy, Celgene Corporation, Summit, New Jersey, USA

Leadership Group:

Robert Babela, PhD, MSc, Head of Department of Public Health / HM, St. Elizabeth University, Bratislava, Slovakia
Sandra Nestler-Parr, PhD, Mphil, Head of Rare Diseases, Roboleo & Co, London, England, UK
Trevor Richter PhD, MSc, BSc, Research Manager, Health Economics, Canadian Agency for Drugs and Technologies in Health (CADTH)Ottawa, ON, Canada

Countries

North America: USA & Canada
Central & South America: Argentina, Brazil, Chile, Columbia, and Mexico
Europe: Czech Republic, Denmark, France, Germany, Ireland, Italy, The Netherlands, Poland, Russia, Slovakia, Spain, Sweden, Turkey, United Kingdom, England, Scotland, Wales plus the European Union
Asia–Pacific: Australia, China, India, Japan, Korea, and Taiwan
Africa: South Africa

Rare Disease Terms

Rare disease(s)
Rare disorder(s)
Rare condition(s)
Neglected disease(s)
Orphan disease(s)
Orphan subset

Syndrome(s) without a name
Rare and neglected disease(s)
Undiagnosed disease(s)
Ultra-orphan disease(s)
Ultra-rare disease(s)
Very rare disease

Highly specialised technologies
Orphan drug(s)
Orphan medicinal product(s)
Orphan product(s)
Ultra-orphan drug(s)
Other

Activities:

Rare Disease: Terminology & Definitions Around the World
May 2011 - ISPOR 16th Annual International Meeting, Baltimore, Maryland, USA

Rare Diseases: Terms, Definitions, and Challenges in Assessing and Appraising Diagnostics and Treatments
November 2013 - 16th Annual European Congress, Forum Presentation, Dublin, Ireland

Acknowledgments:

We are sincerely grateful to the following ISPOR members who generously gave their time and shared their expertise to conduct the jurisdiction-specific research that made this study possible. (The jurisdiction for each individual who provided research data is given in parentheses.): Ceren Akdere, BSc, MSc (Turkey); Amílcar Azamar Alonso, MSc (Mexico); Gabriela Tannus Branco de Araujo, MSc (Brazil); Henk Broekhuizen, MSc (The Netherlands); Paolo A. Cortesi, PhD (Italy); Dalia Dawoud, BSc, MSc, PhD (Denmark); Melike Deger, MSc (Turkey, Australia); Mitchel van Eeden (The Netherlands); Brenda Dooley, MSc, BA (Ireland); Manuel Espinoza MD, MSc, PhD (Chile); Ruediger Gatermann, MA, MBA (Germany); Dominik Golicki, PhD, MD, MSc (Poland); Tim Kanters, MSc (The Netherlands); Katarzyna Kolasa, MSc (Poland, Sweden); Daria Korchagina, MBE (Russian Federation); Katerina Kubackova, MD, PhD (Czech Republic); Yukiko Nishimura, MSc (Japan); Hye-young Kwon, PhD (South Korea); Camila Ignacia Quirland Lazo, BS (Chile); Rony Lenz, MA (Chile); Shelley McGee, MSc, BSc (South Africa); Milan Macek, MD, PhD (Czech Republic); Andrea Marcellusi, MSc (Italy); Sandra Milev, MSc (Canada); Giácomo Balbinotto Neto, PhD (Brazil); Liv Nymark, BSc, MSc (Denmark); Xiongfei (Steven) Pan (China); Pedro Plans, MD, MBA, MSc (Spain); Marcelo Ponte, MD (Argentina); Jonathan Rodrigues, PharmD (France); Diego Rosselli, MD, MSc, Med (Colombia); J.L. (Hans) Severens, PhD (The Netherlands); Petra Szilagyiova, MD (Slovakia); Jun Tang, PhD (China); Tomas Tesar, PhD, MBA (Slovakia); Dixon Thomas, MPharm, MS, MSc, PhD (India); Weiying Wang, MPH (India, USA); Ramon Wiest, BSc (Brazil); Johanna Wiss, (Sweden); Danny Yeh, PhD (Taiwan). Our thanks also to the following members of the ISPOR Rare Disease Terminology & Definitions Used in Outcome Research Working Group who contributed to the development of this manuscript: Ruzan Avetisyan, PhD, MD; Bryan Bennett, PhD, BSc; Jacqueline Bowman-Busato; Dalia Dawoud, BSc, MSc, PhD; Melike Deger; Brenda Dooley, MSc, BA; Meg Franklin, PharmD, PhD; Vivian Herrera; Katarzyna Kolasa; Zoltán Kaló, PhD, MD, MSc; Yasufumi Kuroda, PhD; Zhimei (Jamae) Liu, PhD; Sandra Milev, MSc; Andrew Olaye, PhD; Phil Ruff, PhD, BSc; Ruth Suter, MBA, RD; Vlad Zah, PhD, BSc. Finally, we are grateful to each of the following reviewers who submitted written comments on a draft version of this manuscript: Bhagwan Aggarwal; Renée J.G. Arnold; Ségolène Aymé; Suresh Bastakoti; Katy Benjamin; Audra Boscoe; Caroline Conti; Hugh Dawkins; Dalia Dawoud; Jenifer Ehreth; Eileen Fonseca; Ruediger Gatermann; Michael A. Hagan; Uchenna Iloeje; Pravin S. Kamble; Henry Komakech; Yasufumi Kuroda; Hui-Chu Lang; Lars-Åke Levin; Nishkarsh Likhar; Andriy Moshyk; Yukiko Nishimura; Pedro Plans; Jonathan Rodrigues; Karina Różyk; Philip W. Ruff; Luciana Scalone; Neil M. Schultz; Lesley Shane; Ajit Singh; Ruth Suter; Naoko Tomita; Nicolas Vargas Zea; Durhane Wong-Rieger; Vlad Zah; Arthur S. Zbrozek.


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