A new registry has been launched for people with conditions caused by mutations in the gene for fukutin-related protein (FKRP). This includes people with the type 2I form of limb-girdle muscular dystrophy (LGMD) and the type 1C form of congenital muscular dystrophy (CMD) and, in rare instances, the congenital muscular dystrophies muscle-eye-brain disease and Walker-Warburg syndrome.
The Web-based Global FKRP Patient Registry is designed to help researchers find the best ways of caring for people with FKRP-related disorders and to identify people who might be eligible to participate in future clinical trials of new therapies.
It was developed by TREAT-NMD Neuromuscular Network, an international network funded by the European Union that promotes research and development of therapies and standards of care in neuromuscular diseases. (TREAT-NMD stands for Translational Research in Europe — Assessment and Treatment of Neuromuscular Diseases.)
The international registry has two questionnaires, one to be filled out by the patient with a FKRP-related disease (or by a caregiver, guardian or parent), and the other to be filled out by the patient's doctor. The patient/caregiver questionnaire has 11 questions, which can be viewed prior to giving answers.
The registry currently is available in English and German. Spanish, Catalan, Dutch, Italian and French versions are planned. Data are stored securely and carefully protected. Participation is entirely voluntary.
Registrants can learn about trials, other research
TREAT-NMD says the advantages of participation for families include:
Registration need not imply willingness to be in a clinical trial; participants can indicate whether or not they want to be informed about trials. By the same token, registering is no guarantee of being selected for a clinical trial.
Data are protected
Registration involves entering one's name, address, date of birth, gender, email address and password, and then filling in the patient questionnaire and nominating a doctor to complete the questionnaire for doctors. Users can update, delete or change their information by logging in at any time.
The data are stored in a secured computer database and can be accessed only by people directly involved with the registry. Researchers seeking information or identification of potential trial participants can be given disease-related data by the registry but are not allowed access to the names or other personal information of the registrants. Only the registry coordinators at TREAT-NMD and the doctor nominated by the patient can see the names, email addresses and other personal information associated with the data.
For more information about disease registries in general, see To Register or Not to Register: Should you sign up with a research registry about your disease?, Quest magazine, November 2006.