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 part of the Million Dollar Bike Ride grant program with the University of Pennsylvania's 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. 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 researchers may request deidentified data for their research projects. In 2023, 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 55 leading researchers, clinicians, and patient advocates from 16 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)The first-ever international hyperinsulinism guidelines were published in July 2023. These guidelines are a collaboration of work by HI experts around the world, including many who are part of the CHI Collaborative Research Network and CHI staff. Patient and caregiver representatives of the CHI Congenital Hyperinsulinism Collaborative Research Network provided the patient perspective. CHI continues to support the Open Hyperinsulinism Genes Program in partnership with the University of Exeter in the UK which 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. Through December 2023, 894 samples from individuals affected by Congenital Hyperinsulinism and 630 samples from family members from 61 countries on 5 continents have been tested. In 2023, CHI continued to support the CHI Centers of Excellence Designation. Six centers were granted the designation and recognized as multi-disciplinary clinical and research centers in the field of congenital hyperinsulinism in 2021. 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.

CHI increases awareness of HI in order to improve timely diagnosis among the public and medical personnel who have a direct opportunity to detect it, 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 24 languages, CHI brochures, through direct mail and email, and at meetings and conferences. CHI provides educational resources and holds onferences and meetings on HI for patients, families, medical professionals, school personnel,and rare disease industry members. To date, CHI has held 31 family and research meetings and conferences with presentations from academic researchers, members of advocacy organizations, HI patients and families, and biotechnology companies.

CHI advocates on behalf of HI families all over the world for access to quality treatment, medication, and supplies. CHI provides opportunities for affected families to emotionally support each other because the home care medical management of HI is often complicated and difficult. CHI offers online forums, and CHI staff and volunteers are available by telephone, online and in-person for support. CHI establishes funds at hospitals to support families from out of town who must travel to centers of excellence for patient care.