International Patient Registry for ADSSL1 Myopathy
The purpose of this registry is to continue to build our ADSSL1 community and accurately understand the natural course of your condition in order to allow researchers to better understand ADSSL1 myopathy which will help to develop treatments for ADSSL1 myopathy. If you or a family member are affected by ADSSL1 myopathy, please register here. We are partnering with CMDIR (Congenital Muscle Disease International registry), the largest global registry of affected individuals with congenital through late onset muscle conditions.
Please follow the link below to the CMDIR registry consent form to learn more about your rights as a participant and how this information is used and stored.
If you are registering yourself or on behalf of a patient with confirmed genetic diagnosis of ADSSL1 myopathy, please make note of the following:
- When creating the Affected Individual’s profile, you will be asked to fill the clinical and genetic diagnosis. Please fill these fields as indicated in this picture. You can just start typing “ADSS…” in these fields and the correct entry from the drop-down list will show up.
- When you are filling the “Data Sharing Opt-Ins” survey, you will be prompted to provide your discretionary consent for sharing your data for various studies. We kindly request you to provide the consent to share your data with Beggs Laboratory Congenital Myopathy Research Program at Boston Children's Hospital - as indicated here.
Thank you for your time and information!