Global FKRP Registry
The International FKRP (Fukutin-Related Protein) registry collects data from patients worldwide affected by a mutation in the FKRP gene. Most patients with this type of mutation have a type of limb girdle muscular dystrophy known as type 2I (LGMD2I), but FKRP mutations may also cause a form of congenital muscular dystrophy (CMD) known as MDC1C, and in rare instances the diseases known as Muscle Eye Brain (MEB) disease and Walker-Warburg Syndrome (WWS).
Patients (or their parents/carers) initiate the registration process themselves through an online system (now available online at www.FKRP-registry.org). They are asked to answer a short set of questions about their motor function (ability to walk/move around), their respiratory function (breathing ability) and other basic items about family history and heart involvement. Two optional questionnaires addressing quality of life and pain can also be answered at this stage.
After the patients have completed this initial part, they consent to giving their consultant physician access to their data, and the physician completes a second section about the patient’s medical condition. This section contains questions relating to the patient’s genetic mutation and cardiac, neurological and respiratory status plus any other medical problems that may be associated with FKRP mutations. It also aims to record muscle function scoring and functional tests such as the six minute walk test, which is an “outcome measure” or standardised test of how far a patient can walk in six minutes that helps to provide data that can be compared between patients.
The registry has been made possible thanks to extensive collaboration from many clinicians around the world, who will be integrally involved in completing data about their patients and who will be able to access data on their own patients. The FKRP registry is now available in English, German, Italian, Dutch, Spanish and Catalan languages. Other languages will become available in future, but patients who understand English can register at any time as the registry is global and not country-specific.
All data is stored on a secure server only accessible by selected personnel. Patients’ personal details are protected, and the registry is governed by a steering committee and also represented on the TREAT-NMD Global Database Oversight Committee.
Doctors and scientists wishing to use data for research into these conditions may submit a request to the steering committee, and pharmaceutical companies interested in recruiting patients for trials can also make use of the registry in this way. As with the other TREAT-NMD registries, third parties including pharmaceutical companies are never given direct access to identifiable patient data, but the registry can give out anonymised statistics for trial feasibility planning, and can contact the patients with information about potential trials, as well as with other information of relevance to patients with these conditions.