Optimizing the Utility of the National Registry for FSHD Research and Trial Recruitment

Investigator: Rabi Tawil MD

Category: Research - Clinical

The U.S. National Registry for Facioscapulohumeral Muscular Dystrophy (FSHD), is the largest and longest running national FSHD patient registry with up to 15 years (Average, 6 years) of prospective follow up information on 812 individuals with FSHD with an average of about 60 additional patients joining the registry every year. The Registry has been used extensively to study various aspects of FSHD including pain, incidence of retinal vascular disease, overall disease progression, genotype phenotype correlation, development of FSHD-specific patient reported outcome measures, natural history, recruitment for and an infantile onset FSHD study, and recruitment of patients for translational studies at UR. However, about 298 patients have not had genetic testing and an additional 83 have either indeterminate genetic test results or have had negative FSHD1 testing. A number of these patients are likely to have are likely to have FSHD2. Since the vast majority of clinical research studies and all clinical trials will be looking for patients who are genetically confirmed, as things stadn, 47% of Registry patients will not be eligible for recruitment for future clinical trials. Confirming the genetic status of these Registry participants will:

  • almost double the number of patients available for future clinical trials
  • almost double the volume of valuable prospective patient reported information collected for the past 15 years.


The aim of the present proposal is to offer present and future National FSHD Registry participants who have not been genetically confirmed, the chance to get detailed genetic testing for both FSHD1 and FSHD2. This will significantly enhance the value of the Registry both for the participants and for the FSHD research community.

Note: A 1-year no-cost extension provided, as Covid-19 did not allow recruitment goals to be met.

Related Material

Year 1 Progress Report

Year 2 Progress Report

Year 3 Progress Report

Year 4 Progress Report

Year 5 Progress Report