Regarding the “Survey on Challenges Faced by Healthcare Professionals in the Field of Rare Diseases”
November 7, 2024
The Japan Pharmaceutical Manufacturers Association (hereinafter referred to as “JPMA”) has recently conducted a survey in collaboration with the Initiative on Rare and Undiagnosed Diseases (IRUD), the Rare Disease Consortium Japan (RDCJ), and EY Strategy and Consulting Co., Ltd. (planning and operational support) to conduct the “Survey on Challenges Faced by Healthcare Professionals in the Field of Rare Diseases,” and we are pleased to announce that the survey report has been published on the JPMA website.
This survey consists of a quantitative survey (Survey 1) and a qualitative survey (Survey 2). From the perspective of healthcare professionals, it identifies challenges in five areas related to rare diseases (1. Basic and Applied Research, 2. Development and Clinical Trials, 3. Diagnosis, 4.Treatment and Prognosis Management, 5. Disease Awareness) from the perspective of healthcare professionals. It also summarized the expectations placed on various stakeholders (the pharmaceutical industry, academic societies, patient organizations, and government agencies) regarding these challenges, as well as potential directions for resolving them.
Survey on the Challenges Faced by Healthcare Professionals in the Field of Rare Diseases
Challenges in Rare Diseases and Directions for Resolving Them
Aiming to realize a society where patients living with rare diseases and their families can lead more comfortable lives, the JPMA will collaborate with stakeholders to address the diverse challenges facing healthcare professionals identified in this survey.
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[Overview of the Survey on Challenges Faced by Healthcare Professionals in the Field of Rare Diseases]
Survey 1: Quantitative Survey (Online Questionnaire)
[Survey Period] July 25, 2024 (Thu) – August 23, 2024
[Number of Valid Responses] 327
[Survey Participants] Healthcare professionals belonging to the IRUD Diagnostic Committee, healthcare professionals referred by the committee, and healthcare professionals participating in the RDCJ
Survey 2: Qualitative Survey (Interviews)
[Survey Period] September 2, 2024 (Mon) – September 13, 2024 (Fri)
[Number of Valid Responses] 15
[Survey Participants] Those who agreed to participate from among the 327 respondents to the quantitative survey
[What Are Rare Diseases?]
Although the number of patients per disease is small, more than 7,000 rare diseases have been identified worldwide, and the total number of patients is estimated to be 300 million.Although definitions vary by country, according to the “Designation System for Orphan Drugs, Medical Devices for Rare Diseases, and Regenerative Medicine Products for Rare Diseases” based on the Act on Securing the Quality, Efficacy, and Safety of Pharmaceuticals, Medical Devices, and Other Products (Pharmaceuticals and Medical Devices Act),the designation criteria are defined as follows: “the number of affected patients in Japan must be fewer than 50,000; there must be a high medical need; and the product must have a high likelihood of successful development.”In the United States, the threshold is set at fewer than 200,000 patients, while in Europe, one of the criteria is fewer than 5 patients per 10,000 people. Furthermore, these conditions are characterized not only by a small patient population but also by high severity and unknown pathogenesis, making the development of treatments difficult and resulting in a limited number of effective therapies.