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

Aims: The aim of the present proposal is to offer present and future participants of the NIH National Registry of FSHD Patients, 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.

The present capacity of LUMC to perform detailed genetic testing is about 30-40 samples/year. We will therefore ask the Registry to send 50 postcards/year to eligible patients and expect 30-40 will likely respond positively. In order of descending priority the following Registry participants will be recruited:

  • Group 1: Clinically definite/probable, genetic testing not done (approximately 230 eligible members);
  • Group 2: Clinically definite/probable, genetic testing indeterminate (approximately 44 eligible members, who likely have FSHD2);
  • Group 3: Clinically definite/probable, genetic testing negative (approximately 44 eligible members, who likely have FSHD2).

Progress Report

The study protocol was submitted for approval by the Registry scientific advisory board and then to the University of Rochester IRB. Approval was obtained in October 2016 and an additional amendment was approved in November 2016. Approximately 100 recruitment letters were mailed to eligible members of the Registry in the first reporting period (2016-2017). Two mailings of recruitment letters were completed in year 2 (50 letters on 12/14/17 and ~70 letters on 4/16/18). An update on enrollment and results are below:

  • 21 patients contacted us with interest in the study but already had DNA test results that they were aware of. We updated the Registry database accordingly for each patient;
  • 1 family member notified us that the patient passed away;
  • 1 patient expressed interest in the study but then declined;
  • 67 patients are in the process of participating or have completed the study; of which
    • 35 patients consented, shipped their blood, and received their test results
    • 9 patients consented, shipped their blood, and are awaiting results from Leiden
    • 13 patients consented, received a blood kit, but have not had their blood drawn yet
    • 10 patients haven’t yet consented or haven’t been shipped a blood kit yet

We will facilitate completion of the study by the patients listed above who have not received results or have not yet sent their blood sent to Leiden. In addition, we will send reminder letters to non-responders from Group 1 and re-invite them to participate in the study. We will also send recruitment letters to the members who have enrolled in the Registry during the past 6 months and meet the criteria for Group 1. We plan to mail recruitment letters to Groups 2 and Group 3 this upcoming period as well.

Rabi Tawil, MD
Principal Investigator

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