Researchers at Virginia Commonwealth University are seeking participants living with limb-girdle muscular dystrophy type 2I (LGMD2I) to participate in a natural history study. This study aims to better understand disease course so researchers will be able to determine clinically meaningful outcome measures for use in future clinical trials, including the utility of dystroglycan as a biomarker.
This two-year study will consist of clinical follow up visits every six months. Each visit will involve a series of laboratory and functional tests, including physical exam, blood test for biomarkers, muscle biopsy, physical therapy assessment, and quality of life questionnaire.
Children and adults between the ages of 10 and 65 with a diagnosis of LGMD2I based on clinical presentation and genetic testing (mutation in the fukutin-related protein gene (FKRP)) are eligible to participate.
To inquire about participation, contact Tammy Carrington at Tammy.Carrington@vcuhealth.org.
For more information, visit https://clinicaltrials.gov/ct2/show/NCT04202627.