Programs

  • Congenital Hyperinsulinism Research Initiative

    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 also administers a one-time hyperinsulinism hyperammonemia(HIHA) pilot grant for an innovative, preclinical study that has the potential to lead to a better HIHA treatment, a cure for HIHA, or improved quality of life to those affected by HIHA.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. HIGR data is stored on the secure cloud-bassd IAMRARE platform and hosted by the National Organization for Rare Disorders (NORD). By participating in HIGR, the patient community helps themselves and researchers better understand HI to advance better treatments, a potential cure, and more timely and accurate diagnoses. A new substudy, MAXHIGR, was introduced in 2022 that allows physician reported data to be added to the registry.In 2022, CHI continued developing the Collaborative Research Network, after receiving a Rare As One Grant from the Chan Zuckerberg Initiative to create a prioritized research agenda for 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 seven working groups focused on different aspects of the agenda, comprised of 57 leading researchers, clinicians, and patient advocates from 16 countries. In 2021, CHI continued to support the CHI Centers of Excellence Designation. Six centers were granted the designation and recognized as multi-disciplinary clincical 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.In 2022, the CHI staff and members of the Board of Trustees were authors of three peer-reviewed publications which meant that the patient voice was included in medical literature for the first time. Global Registries in Congenital Hyperinsulinism, Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism, and Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families were all published in 2022.
    Geographies
    Not indicated
    Dates
    Jan 1, 2022 – Dec 31, 2022
    Source
    990
    No causes provided
    No populations provided
    –
    $270K

  • Support for HI Families

    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. CHI covers the cost of genetic testing for HI for any patient suspected of having the disease who otherwise cannot afford genetic testing. The testing is conducted by a leading genetics lab at the University of Exeter in the UK.
    Geographies
    Not indicated
    Dates
    Jan 1, 2022 – Dec 31, 2022
    Source
    990
    No causes provided
    No populations provided
    –
    $246.4K

  • Huntington's Disease Awareness Campaign

    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.
    Geographies
    Not indicated
    Dates
    Jan 1, 2022 – Dec 31, 2022
    Source
    990
    No causes provided
    No populations provided
    –
    $187.5K