The CHC Team recently attended training in Richmond to expand LGMD research efforts.
The world’s highest concentration of individuals with LGMD R1/2A (calpainopathy) hail from Indiana’s Adams and Jay Counties, where at least 150 affected live within a 20-mile radius and more that one in 400 babies are born with the disease. The Community Health Clinic (CHC) is a medical home for these patients, providing them with affordable genetic testing, counseling, and medical care.
Based on this extensive clinical experience and the trust on which it is founded, the CHC recently became a site for the GRASP study.
Rapid advances in genetic therapy for Duchenne muscular dystrophy and LGMD R4/2E have set the stage for LGMD R1/2A, but therapeutic development has outpaced clinical trial preparedness. Calpainopathy is the most common form of LGMD, accounting for 30% of LGMD worldwide, but there are currently no approved therapies to alter the natural course of the disease.
Calpainopathy should be amenable to several emerging therapeutic approaches, including gene replacement, gene editing, and myostatin inhibition. Therapeutic development depends critically on rigorous natural history data as the basis for the design of clinical trials. It is vital to identify the health outcomes that are the most meaningful to patients and their relationship to measurable biomarkers. These form the indispensable foundation for enabling high-quality and successful clinical trials.
At the CHC, we’re honored to participate in this process and inspired by the opportunity to support clinical trials that bring new hope to the families we serve.
This article was written by Zineb Ammous, MD, FACMG, CLinical and Biochemical Genetists Medical Director, The Community Health Clinic and was originally published in the LGMD News Magazine Summer 2024 Vol. 4 / Issue 3.
About The Community Health Clinic
The Community Health Clinic (CHC) is a 501(c)(3) non-profit healthcare facility located in Shipshewana, Indiana, that provides specialized genetics care consistent with Amish and Mennonite (Plain) values. The CHC provides clinical genetic services to all individuals, regardless of religion, race, or age. Over the past 11 years, the CHC has grown into a successful rural genetics clinic and a thriving clinical research center. The CHC currently serves 1,500-2000 individuals per year with special healthcare needs related to genetic conditions. As a medical home for patients and families with complex genetic conditions, our team of health professionals work hard to help patients and their families get needed medical care for the best possible health outcomes.