Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Abstract

The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC's accomplishments over the first six years, including how the Consortium was developed and organized, clinical research studies initiated, and the importance of creating partnerships with patient advocacy groups, philanthropic foundations and biotech and pharmaceutical companies.

A Systematic Review of Approaches for Engaging Patients for Research on Rare Diseases

“…Eleven studies used qualitative or survey methods to obtain input from patients, 4,7,[18][19][20][21][22][23][24][25][26] and 17 studies were narrative reports describing one group's experiences with engagement. [27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43] The remaining seven studies were descriptions of specific initiatives reported on websites [44][45][46][47][48][49][50] ( Table 1 and Table 2). The studies were mostly conducted in North America and Europe, and most focused on a specific rare disease rather than rare diseases in general.…”

“…7, 18-20, 23-26, 36, 39, 45 One study obtained patient feedback on informational materials that would be presented to study subjects. 19 Thirteen studies described more collaborative involvement in at least one stage of the research process; for example, including patients on governing or advisory committees, 32,33,38,42,48 in developing study interview guides, study materials and websites; 21,35,52 in collecting data (conducting interviews), 4,21 in reviewing research findings, 21,28 and in disseminating findings. 4,33,37,[40][41][42] Stakeholder-driven approaches were reported; included here are examples of patients or advocacy organizations initiating new studies 4,29,37,41,42,46 and controlling the research process by setting the research agenda, having responsibility for data collection, and disseminating findings (e.g., Patient-Powered Registries 43 ).…”

“…However, many studies reported perceived impact of engagement that was not measured and could not be confirmed. Some perceived benefits relative to other studies that did not use engagement were practical, such as improved access to patients or improved recruitment methods, 4,19,29,30,35,42,43 improved study retention, 19 more in-depth responses in interviews (when using patients to conduct the interviews), 21 less time to complete the project, 4 and incorporation of a broader range of outcome measures to inform future risk-benefit assessments for investigational treatments. 49 Other perceived benefits were less tangible, such as increased relevance of the project, 4,29,35 broader dissemination of findings, 35 improved acceptance of research findings among end-users, 29 greater mutual respect between scientists and patients, 32 and increased transparency of and public confidence in the research.…”

“…access to or recruiting patients both for engagement and as study subjects, 19, 22, 29-31, 35, 41 and in enhancing communication about research participation opportunities and research findings (e.g., through social media, websites, conferences, and newsletters). 31,35,36,41 In some cases, representatives from these organizations were directly involved in the research process, serving on advisory and regulatory committees 28,42 or providing input on study protocols, 19,22,35 for example. Some studies reported that patient organizations initiated clinical trials or other studies of rare diseases.…”

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

“…E-IMD has fostered international collaboration with the American UCDC consortium (Seminara et al 2010) and the newly established Japanese UCDC. The E-IMD network has developed beyond expectations and now includes 87 partners in 25 countries.…”