Congenital Hyperinsulinism International

Target demographics: provide support and advocacy to individuals with HI and their families, raise awareness to improve knowledge of HI among people affected by the condition, medical professionals, and the general public, and supporting and contributing to research for a better understanding of the condition to advance diagnostics, new treatments, and cures.

Geographic areas served: globally

Programs: The CHI Collaborative Research Network (CRN) is a dynamic international collaboration of researchers, clinicians, and expert patient and caregiver advocates working together to accelerate hyperinsulinism research. The CRN Mission is to create and sustain a hyperinsulinism collaborative research network that puts patients at the center of a strategy that leads to faster and more accurate diagnosis, drives new evidence-based treatments and cures, standardizes clinical guidelines, and facilitates increased and improved access. The HI Global Registry is a patient and physician-reported IRB-approved natural history study consisting of thirteen surveys that record various aspects of the patient and caregiver experience with HI over their lifetime. Additionally, MaxHIGR provides complementary data from the physician perspective. Survey responses and MaxHIGR data are made anonymous/deidentified and shared with researchers to improve the overall understanding of HI to help advance new treatments, to improve patient care, and ultimately, to bring the lived experience of HI to the forefront of research. Through a partnership with the Million Dollar Bike Ride of the Center for Orphan Diseases at the University of Pennsylvania, CHI raises funds and determines the RFA for innovative clinical or pre-clinical studies that have the potential to benefit patients living with HI and should lead to: (1) an improved treatment; (2) novel endpoints for evaluating efficacy of treatments; (3) a better understanding of the patient experience including difficulty with feeding, fear of hypoglycemia, or the patient experience in resource limited settings; (4) knowledge of the cause of neurological damage; (5) novel or more effective methods for diagnosing hyperinsulinism at or near birth; or (6) enhanced management for HI. The CHI Centers of Excellence Program designates leading HI centers that provide the highest level of multi-disciplinary care to HI patients and demonstrate an ongoing commitment to research and collaboration. The Open Hyperinsulinism Genes Program, in partnership with the University of Exeter in the UK, is the first point-of-need international genetic testing service for HI that is also accelerating scientific knowledge through the creation of a self-sustaining, research gene discovery pipeline. In the area of support and advocacy, CHI moderates a Congenital Hyperinsulinism Family Forum where affected individuals and their family members can turn for support on any topic related to HI, day or night, from anywhere in the world. CHI also has programs for families who have difficulty obtaining necessary medications and supplies. CHI also provides members of the patient community and their families with many opportunities to share their experiences and sharpen their advocacy skills. Information dissemination is another key program area. Through its active website, social media channels, video collection, hosting of frequent conferences and meetings, representation at professional meetings, and publications program, CHI actively disseminates information about HI to key stakeholders and the general public.