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

Update by Dr. Rabi Tawil

Aims: The aim of the study is to offer 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.

Lay Summary

The National FSHD Registry is an important resource to help us understand what happens to individuals with FSHD over time. It is also important to help researchers and drug companies recruit individuals for future treatment trials. However, because some insurance companies don’t pay for genetic testing, 47% of Registry participants were are not genetically confirmed. Since genetic confirmation is essential for participating in future studies, we proposed to offer individuals with FSHD free genetic testing. With this study we were able to add a total of 83 individuals in the Registry into the genetically confirmed category.

The study involves a collaborative effort between the University of Rochester Medical Center (URMC) FSHD research team, the National Registry team based in Rochester and the laboratory of Dr. Silvère van der Maarel at Leiden University Medical Center (LUMC). Funding was provided via a three year grant supported by the FSH Society, Inc. and Friends of FSH (6/1/2016 to 5/31/2019).


The capacity of LUMC to perform detailed genetic testing for this study is about 30-40 samples per year. The overall goal was to enroll 90-120 members of the Registry into this study. In order of descending priority, the following Registry participants were planned to be recruited:

  • Group 1: Clinically definite/probable FSHD, genetic testing not done (approximately 205 eligible members);
  • Group 2: Clinically definite/probable FSHD, genetic testing indeterminate for FSHD1 (approximately 30 eligible members, who may likely have FSHD2);
  • Group 3: Clinically definite/probable FSHD, genetic testing negative for FSHD1 (approximately 20 eligible members, who may likely have FSHD2).

Results to date:

The study protocol was submitted for approval by the Registry Scientific Advisory Board and then to the University of Rochester IRB. IRB approval was obtained in October 2016. We sent multiple recruitment letters to 209 members in “Group 1” through the grant period. An update on enrollment and results are below:

  • 60 patients completed the study. Genetic test results have been shared with the patient and added to our Registry database. The results indicated 55 patients had FSHD1, two patients had both FSHD1 and FSHD2, one patient had FSHD2, and two patients were negative for FSHD1 and FSHD2.
  • 16 patients are in-process of: 1) providing consent; 2) receiving a blood collection kit, or; 3) providing a blood sample.
  • 23 patients contacted us with interest in the study but were found that they already had DNA test results that they were unaware of via prior research visits within our database or that we were unaware of, or had been done clinically. We updated the Registry database accordingly for each subject, in effect gaining another 23 registry patients into the genetically-confirmed category without having to test them. In total, therefore, we have added 83 patients into the genetically confirmed category in the Registry.

Other updates

  • 1 member had passed away (per family member report);
  • 1 member expressed interest in the study but then declined because of concerns about life insurance;
  • 1 member moved into an elder care facility and was no longer able to participate.

Future plans:

  • Carryover funds will be used for shipping blood kits and laboratory testing. With these carryover funds, we plan to facilitate completion of the study for the 16 subjects currently in-process. If enough funds remain, we will aim to recruit additional patients from the diagnostic Groups 2 and 3 listed above.
  • We continue to receive inquiries from patients and physicians about the ability to perform genetic testing on members newly enrolled in the Registry. We will assess the opportunities for additional funding to provide future genetic testing on current and new members of the Registry.
  • We are somewhat disappointed that of the 209 patients we sent letters to, only a total of 86 responded despite repeated attempts to reach them. Perhaps the timing was not right and that now that trials are happening, Registry members may be much more receptive to get genetically confirmed.
  • We are also using experience from this study to assess expanding access to genetic testing in myotonic dystrophy (DM) patients enrolled in the Registry. Opportunities may exist to use a similar study design in DM members, especially as a new and cheaper method of DNA testing is being developed and tested.