Barriers to Rare Disease Research

From the Alliance perspective, there are a number of significant, but not insurmountable, barriers to rare disease research:

• Difficulty finding, enlisting and maintaining participants in rare disease clinical trials
• Inadequate orientation, education and preparation of research participants and their families for clinical trials participation
• Less than full commitment by participants to completion of the entire research study
• Inadequacy of funds to cover transportation costs for families and individuals traveling to research sites, and to cover other expenses incurred as a result of time away from employment and child care responsibilities
• Less than optimal communication between research investigators, the IRB overseeing the research and research participants
• Lack of consensus among professional, consumer and commercial groups on standard informed consent procedures, including process of release of rare disease tissue to a storage bank, specified utilization of release samples, research data privacy controls and participation in clinical trials
• Inadequate genetic and medical privacy protections, on state and federal levels, which contribute to consumer reluctance to participate in research studies
• Research community's disregard for consumer concerns about genetic privacy, security of research records and genetic discrimination
• Inadequate access to and limited availability of the full range of rare disease tissue samples
• Instability of research funding which may result in premature termination of the study
• Lack of central coordination of on-going clinical trials research
• Inadequate national coordination of the results of completed research studies.

Breaking Down Barriers

The most critical factor in breaking down these barriers to research, from the consumer perspective, is the development of true research partnerships between consumers and investigators which value and respect the contributions of both partners and both perspectives. Lay advocacy groups, consumers and families identified with the rare condition must share responsibility for research grant selection, protocol design, oversight and project implementation, and receive full collaborative support of researchers.

IRB Inclusion

The Alliance proposes that the most effective way to meet mutual research goals is to include potential participants, or representatives of the participant community, as full members of the IRB at the earliest stages of research protocol design. To maximize participant contribution to research, consumers need to be educated about the research process itself. Consumers must understand the process involved in research, and how their personal contributions relate to the advance of genetic knowledge.

The Alliance encourages the research community to include knowledgeable consumers, who understand the rare disease from both personal experience and from a research perspective, in integral roles on all IRBs considering rare disease research. This would help open channels for communication, trust and collaboration between researchers and those participating in clinical research studies from the very beginning. Above all, it will provide insight into how the proposed protocol would impact participant families.

Other Strategies

Along with including consumers on IRBs, the following strategies will also help promote the coordination of research:

• Consensus across consumer, professional and research communities on informed consent, counseling, education and follow-up procedures to accompany research interventions. An important Alliance publication, the Informed Consent brochure, has gradually become the prototype for research as well as clinical protocol informed consent procedures and can serve as a useful starting point for developing consensus among research and consumer groups.
• Use of lay advocacy groups and umbrella consumer groups to provide direct access to research participants and families, and encourage their enlistment. These groups can collaborate in orientation, preparation, education, counseling and informed consent procedures reflecting research and participant perspectives and agendas.
• Increase awareness of researchers about the emotional, financial and physical needs of families participating in research studies. Participant families may experience stress due to the following: separation from other children, spouse, employment and the structure of normal daily life; travel over long distances to clinical studies; and having questions to which there may not be answers at the time of the study, or to which there may never be answers.
• Education and orientation of research participants so they fully understand and appreciate the value and limitation of their participation in research for their families and for rare disease research.
• Passage of state and federal statutes guaranteeing protection of medical and genetic privacy and confidentiality so that participants can enlist and participate without fear of negative impact on employment or health insurance.
• Passage of profit incentives through permanent tax credits for rare disease research.
• Encouragement of all lay advocacy groups to establish professional advisory boards to monitor in-house review and consideration of applicant research proposals. The primary task or job description of board members would be to keep abreast of current research.
• Improve tissue availability through enhancing current storage of a full range of rare disease tissues, and by creating an Internet-accessible catalogue of available tissue in various tissue storage collections.

» Consumers and Researchers: Making It Work