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 the PROMIS Global-10 measure, as well as additional disease-specific items. Participants are encouraged to upload a digital copy of their genetic report. The registry curator reaches out to participants annually via email, requesting that they update their data on the platform. 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 secure web-based application developed and maintained by the National Organization for Rare Disorders (NORD). It is compliant with U.S. Health Information Privacy Laws, FDA regulations on electronic records, and security requirements of General Data Protection Regulation (GDPR). There are no geographic restrictions to joining this global Registry. All patient-facing documents have been reviewed and approved by the North Star Review Board. A Steering Committee governs the Registry.
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 research studies or clinical trials. In the first two months after opening, data was entered by 133 participants. Efforts around patient engagement and promotion of the registry are ongoing to increase global participation. Data will be available for use with approval from the Steering Committee.