CONGENITAL HYPERINSULINISM INTERNATIONAL

CHI supports research and development to better understand, treat, manage, and hopefully cure HI. CHI shares the patient perspective with researchers and members of the biopharmaceutical industry to accelerate the development of patient-centered treatments. CHI is a part of the Million Dollar Bike Ride grant program with the University of Pennsylvanias Center for Orphan Diseases; a pilot research grant is offered each year for an innovative, preclinical or clinical study with the potential to lead to a better HI treatment, a cure for HI, or improvement in the quality of life for those affected by HI. In 2024, CHI was able to award two pilot research grants through this program.In 2024, the CHI Research Staff worked with a lead epidemiologist to publish The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease. This publication, published in Hormone Research in Pediatrics, reviews epidemiological data on HI as reported in the literature, identifying the strengths and limitations of each HI prevalence study.CHI conducts the HI Global Registry (HIGR) research project. HIGR provides a convenient online platform for the HI patient community to share their experiences of living with HI. With permission from the patient families, MaxHIGR provides complementary data from the physician perspective. By participating in the HI Global Registry, the patient community helps themselves and researchers better understand HI to advance better treatments, a potential cure, and more timely and accurate diagnoses. A HIGR report is published each year by the CHI staff. Scholars and research may request deidentified data for their research projects. In 2024, CHI continued to lead the Collaborative Research Network (CRN), a project of CHI dedicated to the development of faster and more accurate diagnoses, new evidence-based treatments and cures, standardized clinical guidelines, and increased and improved access to treatment, medication, devices, and supplies. This ambitious project includes working groups focused on different aspects of a prioritized research agenda (PRA) developed by the CRNs members including 60 leading researchers, clinicians, and patient advocates from 17 countries The CRN members have been focused on the top priorities identified in the PRA: Newborn Screening (Diagnose all babies with congenital hyperinsulinism in a timely manner); Glucose as a Vital Sign (Increase awareness and timely diagnosis of HI); Care Guidelines (Create and disseminate continually evolving global care guidelines); Natural History (Build a robust registry that collects patient-reported, physician, and real-world data to provide a foundation for HI natural history); Continuous Glucose Monitoring (Create principles for Draft guidelines on CGM use in HI patients). Since the launch of the CRN in 2020, the CRN members have published a total of 194 articles on congenital hyperinsulinism covering a wide range of topics including genetics, treatment, disease management, monitoring and technology, screening and diagnostics, clinical guidelines, education, patient experience, quality of life, policy, and access to care. In 2024, the CRN published an Advocacy Statement and List of Essential Medical Care, Medication, Supplies, and Services for people with congenital hyperinsulinism (HI). The CRN also published "Continuous glucose monitoring for children and young people with hyperinsulinism: a practical guide for families & professionals and CGM: a tool to support HI families". These guides are a collaboration of work by HI experts around the world, including many who are part of the CHI CRN and CHI staff. Patient and caregiver representatives of the CHI CRN provided the patient perspective. CHI continues to support the Open Hyperinsulinism Genes Program in partnership with the University of Exeter in the UK. This program is the first point-of-need international genetic testing service for HI and is also accelerating scientific knowledge through the creation of a self-sustaining research gene discovery pipeline. Through December 2024, 1001 samples from individuals affected by Congenital Hyperinsulinism and 731 samples from family members from 63 countries on 5 continents have been tested. In 2024, CHI continued to support the CHI Centers of Excellence Designation and announced a second round of designations. Eight centers were granted the designation, or re-designated, and recognized as multi-disciplinary clinical and research centers in the field of congenital hyperinsulinism. The goals of this program are to make it easier for patient families to access care at leading hospitals, encourage patient-focused standards at the leading hospitals, foster a pipeline of expert clinicians and researchers, and to encourage collaboration among researchers, clinicians, and patient leaders and advocates.In 2024, CHI became a part of the international, 11-member LightCure Consortium, a project made possible by a grant from the European Union research arm Horizon Europe and encompassing CHIs work to strengthen patient engagement and raise worldwide awareness of HI and its myriad of challenges. The scientific researchers who are a part of the LightCure consortium hypothesize that via a minimally invasive process, light can be used to target and eliminate improperly working pancreatic cells.

CHI increases awareness of HI to improve timely diagnosis and guideline-driven management of HI to the public and medical personnel who have a direct opportunity to detect it, in order to decrease adverse neurological outcomes and death. To that end, CHI spreads awareness of HI with ongoing campaigns on social media, the CHI website and blog, CHI posters in 25 languages, CHI brochures, through direct mail and email, and at meetings and conferences. CHI provides educational resources and holds conferences and meetings on HI for patients, families, medical professionals, school personnel, and rare disease industry members. To date, CHI has held 35 family and research meetings and conferences with presentations from academic researchers, members of advocacy organizations, HI patients and families, and biotechnology companies.