In September 2023, Coalition to Cure Calpain 3 launched the LGMD2A/Calpainopathy Registry. This global, patient-reported registry collects longitudinal data on individuals living with Calpainopathy (including limb-girdle muscular dystrophy type 2A/LGMDR1 and limb-girdle muscular dystrophy type 1I/LGMDD4).
The Registry utilizes the TREAT-NMD LGMD Core Dataset, the ACTIVLIM questionnaire, and additional disease-specific items. Participants are encouraged to upload a digital copy of their genetic report. The registry curator requests annual updates via email. Participants can enter their own data, or, in the case of minors, Legally Authorized Representatives can enter data on their behalf.
The LGMD2A/Calpainopathy Registry collects patient-entered data through a web-based application. It is compliant with U.S. Health Information Privacy Laws, FDA regulations on electronic records, and security requirements of General Data Protection Regulation. There are no geographic restrictions to joining the Registry. All patient-facing documents have been approved by the North Star Review Board. A Steering Committee governs the Registry.
Surveys were completed by 278 participants between the launch and July 2025. The most common country of residence is the United States (33%), and most participants are female (53%). The majority of individuals report that they have been told they have LGMD2A/R1 (85%), while 3% have LGMD1I/D4 and 12% do not know the inheritance pattern of their condition. Here, we present a baseline analysis of the data, including demographics, diagnosis, and disease characteristics.
The Registry creates a platform to bring the Calpainopathy community together and collect patient data that is an essential requirement for policy makers, academic researchers, and pharmaceutical companies to advance treatments for this disease. Additionally, the study will help identify individuals with Calpainopathy who might be willing to take part in clinical trials. Efforts around patient engagement are ongoing to increase global participation. Data will be available for use with approval from the Steering Committee.