Advocacy Groups and Their Role in Rare Diseases Research

Abstract

One of the remarkable and unique aspects of the recent history of rare disease research has been the evolving role of patient advocacy groups and the collaborative partnership that exists among such groups and the scientists who study rare diseases, as well as the government officials charged with overseeing medical research and regulatory processes. This collaboration, which in many respects developed out of necessity on all sides, is unparalleled in other areas of medical research and product development. It has played a significant role over the past 30 years in the adoption of public policies, available research funding and other factors affecting the general climate for research on rare diseases. Specific areas of interest include the adoption of the Orphan Drug Act in the U.S. in 1983 and subsequent similar legislation elsewhere in the world; the relationship of patient advocacy groups with government research funding and regulatory entities; the role of patient advocacy groups in seeking to "de-risk" orphan product development through initiatives such as facilitating patient registries and disease natural histories; the role of advocacy groups in ensuring that patients have access to treatments; and the increasing globalization of patient advocacy initiatives.

How disease advocacy organizations participate in clinical research: a survey of genetic organizations

“…Respondents who indicated that their organization had not been previously involved with research were not asked this series of questions. Information to give subjects 45 (38) 29 (24) 20 (17) 6 (5) 19 (16) How to recruit subjects 40 (34) 29 (24) 21 (18) 12 (10) 17 (14) Topics to study 40 (34) 27 (23) 26 (22) 13 (11) 13 (11) The goals of the study 35 (29) 37 (31) 26 (22) 6 (5) 15 (13) How a study is designed 24 (20) 16 (13) 40 (34) 16 (13) 23 (19) Values are expressed as N (%).…”

“…15,16 Many disease advocacy organizations (DAOs), which enable individuals with a shared interest to pool their collective resources and shared knowledge of a medical condition, work closely with clinicians and scientists, particularly in the United States. [17][18][19] DAOs are becoming more common in other countries as well, including the developing world. 20,21 Although DAOs have traditionally been associated with patient education and support, recent evidence suggests that their involvement in clinical research may be expanding.…”

Leadership in Health Care, Research, and Quality Improvement for Children and Adolescents With Autism Spectrum Disorders: Autism Treatment Network and Autism Intervention Research Network on Physical Health

“…Over the course of the past 30 years, patient advocacy groups have been instrumental in raising awareness, advancing the science, and ensuring that patients have access to the appropriate health care and treatments they need. 9 The most successful groups have approached this through collaboration among key stakeholders in government, academia, and health care. Autism Speaks has been successful in advancing science and clinical care by influencing policy makers to recognize the complex challenges faced by their constituents and sharing their sense of urgency and purpose to ensure that policies do not stand in the way of research and treatment.…”

The role of patient advocacy/parent support groups

“…Most of these disorders fit into the 'rare disease' category. [6][7][8][9] Often an organisation will bring together a surprisingly large number of affected individuals who are willing to take part in research projects. The advocacy can be for research regarding natural history information, for management and care, or for therapy.…”