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

Posted by George Shaw on May 30, 2017

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:

  1. Clinically definite/probable, genetic testing not done
  2. Clinically definite/probable, genetic testing not done
  3. Clinically definite/probable, genetic testing indeterminate
  4. Clinically definite/probable, genetic testing negative (the last two categories are likely to have patients with 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. 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:

  • A total of 36 Registry member responded in addition to one notification of a recently deceased member.
  • Of those who responded, we found that 4/36 had genetic testing but were unaware of it or had genetic testing done as part of a separate research study but for which the members had not previously consented to share the results with the Registry. We updated the Registry database accordingly.
  • Of the remaining 32 eligible members, 30 consented to participate in the study
  • Twenty-five blood collection kits were sent out to consented patients with an additional 5 to be sent shortly.
  • Of 25 mailed kits, 22 had blood drawn and sent to Leiden for genetic testing.
  • We plan to resend a letter to the 63/99 initial non-responders inviting them again to participate in the study. This will be done next week, along with an additional 50 letters to Registry members not previously contacted.

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
Principal Investigator

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