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Aims: 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.
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:
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. Two mailing campaigns were completed (49 letters on 12/12/16 and 50 letters on 2/3/17) for a total of 99 letters mailed to date:
In conclusion, we expect to easily reach the target of 30-40 patients tested in year one. Because the initial lower than expect response from the first 50 members contacted, we sent another 50 letters during year 1 of the project. We will adjust the recruitment process for subsequent years by aiming for three mailings of 50 letters each for a total of 150 letters.
Rabi Tawil, MD