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Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

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  • Takeya Adachi

    (Department of Dermatology, Keio University School of Medicine, Tokyo 160-8582, Japan
    Department of Medical Regulatory Science, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
    United Japanese-Researchers Around-the-World (UJA), Isehara 259-1143, Japan
    These authors contributed equally to this work.)

  • Ayman W. El-Hattab

    (Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah 27272, United Arab Emirates
    MENA (Middle East and North Africa) Organization for Rare Diseases, Dubai 500767, United Arab Emirates
    Department of Pediatrics, University Hospital Sharjah, Sharjah 72772, United Arab Emirates
    These authors contributed equally to this work.)

  • Ritu Jain

    (Dystrophic Epidermolysis Bullosa Research Association (DEBRA), Singapore 059811, Singapore
    Asia Pacific Alliance of Rare Disease Organizations (APARDO), Singapore 188976, Singapore
    Language and Communication Centre, School of Humanities and Social Sciences, Nanyang Technological University, Singapore 639798, Singapore
    These authors contributed equally to this work.)

  • Katya A. Nogales Crespo

    (Policy Wisdom LLC, Quebradillas 00678-2705, Puerto Rico
    These authors contributed equally to this work.)

  • Camila I. Quirland Lazo

    (Health Technology Assessment Unit, Cancer Research Department, Arturo López Perez Foundation, Santiago 7500921, Chile
    School of Medicine, Universitat Autònoma de Barcelona, 080193 Barcelona, Spain
    Faculty of Pharmaceutical and Chemical Sciences, University of Chile, Santiago 8380000, Chile
    These authors contributed equally to this work.)

  • Maurizio Scarpa

    (European Reference Network for Hereditary Metabolic Diseases (MetabERN), 33100 Udine, Italy
    Regional Coordinating Center for Rare Diseases Friuli Venezia Giulia, Udine University Hospital, 33100 Udine, Italy
    Brains for Brain Foundation, 35128 Padova, Italy
    These authors contributed equally to this work.)

  • Marshall Summar

    (The Translational Science Training Program, National Institutes of Health (NIH), Maryland, MD 20814, USA
    Children’s National Medical Centre, Washington, DC 20010, USA
    National Organization for Rare Disorders (NORD), Quincy, MA 02169, USA
    Children’s National Rare Disease Institute, Washington, DC 20012, USA)

  • Duangrurdee Wattanasirichaigoon

    (Thai Rare Disease Foundation (ThaiRDF), Bangkok 10230, Thailand
    Prader-Willi Syndrome Association (PWSA) of Thailand, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand
    Rare Disease Working Committee, Thai National Health Security Office (NHSO), Bangkok 10210, Thailand
    Sub-Working Committee for Rare Disease Medicine, Thailand National List of Essential Medicines (NLEM), National Drug Policy Division, Food and Drug Administration, Nonthaburi 11000, Thailand)

Abstract

This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds on a review of academic literature and policies and a process of validation and feedback by a group of seven experts from across the globe. Panelists were selected based on their academic merit, expertise, and knowledge regarding the RD environment. The document is divided into five main sections: (1) methodology and objective; (2) background and context; (3) overview of the current situation and key challenges related to RDs covering six dimensions: burden of disease, patient journey, social impact, disease management, RD-related policies, and research and development; (4) recommendations; and (5) conclusions. The recommendations are derived from the discussion undertaken by the experts on the findings of this review and provide a set of actionable solutions to the challenges and barriers to improving access to RD diagnosis and treatment around the world. The recommendations can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups.

Suggested Citation

  • Takeya Adachi & Ayman W. El-Hattab & Ritu Jain & Katya A. Nogales Crespo & Camila I. Quirland Lazo & Maurizio Scarpa & Marshall Summar & Duangrurdee Wattanasirichaigoon, 2023. "Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges," IJERPH, MDPI, vol. 20(6), pages 1-37, March.
  • Handle: RePEc:gam:jijerp:v:20:y:2023:i:6:p:4732-:d:1090682
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