Developing a Collaborative Research Network to Accelerate the Understanding and Treatment of the Rare Disease Congenital Hyperinsulinism

Abstract

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI's goals for robust and rapidly translatable research. We describe the development of a collaborative research network (CRN) of HI experts and patients to drive sustainable research excellence that leads to faster and more accurate diagnosis, drives new evidence-based treatments and cures, standardizes clinical guidelines, and facilitates increased and improved access to care. Objective: To report on the formation of the HI CRN, to present our prioritized research agenda, and to report on progress. Methods: CHI applied for and received funding to launch an HI CRN from the Chan Zuckerberg Initiative in 2020. A total of 60 academic and industry researchers, clinicians, and expert patient advocates from 19 countries were invited to join the CRN. Clinical expertise included endocrinology, genetics, radiology, nursing, and other related disciplines. Participants worked in groups over two years in virtual meetings to identify gaps in knowledge and resources in 7 key areas: genetics, diagnostics, glucose monitoring, medication and surgical management, care-guidelines and centers of excellence, nomenclature, and clinical trials/ industry engagement. Results: The HI CRN outlined and defined >360 individual deficits in information in various aspects of HI. Through deliberation of current evidence and patient needs, a prioritized research agenda was identified in five key areas: (1) investigation of the natural history of HI, (2) development/adoption of a newborn HI screening approach, (3) investigation of specific causes of hypoglycemia related neurological injury, (4) development of continually evolving global care guidelines, and (5) development of an expert group advising on clinical trials for regulatory approval of novel and repurposed therapeutic options for HI. The summated and synthesized interactions within sub-groups and whole group in the CRN has led to strategic workplans for five key working groups, an in-person meeting of participants in these groups, and inspired peer-reviewed publications. Conclusion: The HI CRN has identified key areas of information deficit by successfully integrating clinicians, industry partners, and patient representatives to enhance research perspectives and lay the foundations for sustainable HI research tailored for patient need. The HI CRN will continue to develop and refine research and advocacy strategies to improve understanding and treatment of HI through meaningful ongoing international collaboration.