Congenital Muscle Disease Study of Patient and Family Reported Medical Information
This observational study, called CMDPROS, is collecting information from patients and their families about congenital muscle diseases. It aims to understand how these conditions affect daily life and identify common problems or events over a 10-year period. The study is looking for people with various types of congenital muscular dystrophy, including those with ITGA7 (Integrin Alpha-7) deficiency and different forms of Alpha-Dystroglycanopathy. To join, you would register with the Congenital Muscle Disease International Registry (CMDIR) online. The goal is to gather enough information to improve care and quality of life for individuals with these rare conditions.
- Study design
- This is an observational study with a planned enrollment of 4000 participants. It is a longitudinal study, meaning it collects data over a long period.
- What's involved
- You would register in the Congenital Muscle Disease International Registry (CMDIR) by visiting www.cmdir.org. There is no travel required.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants' outcomes will be measured over a 10-year period.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Gustavo Dziewczapolski, PhD · STUDY_CHAIR · CureCMD, CMDIR
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
What this trial measures
- Congenital Muscle Disease Patient and Proxy Reported Outcomes10 years
Correlation between genetic and biopsy findings and their relation to phenotypic and adverse event data.