Global FKRP Registry
Research type
Research Database
IRAS ID
336584
Contact name
Volker Straub
Contact email
Research summary
Global FKRP Registry
REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
23/NE/0222
Date of REC Opinion
19 Dec 2023
REC opinion
Favourable Opinion
Data collection arrangements
The Global FKRP Registry is an international registry (database) for individuals with conditions caused by mutation of the Fukutin-Related Protein gene (FKRP): limb girdle muscular dystrophy R9 (LGMDR9, also called LGMD2I) and the congenital muscular dystrophies MDC1C, Muscle-Eye-Brain Disease and Walker-Warburg Syndrome. Launched in 2011, the registry holds patient-entered clinical and genetic data on over 900 patients with an FKRP-related condition. Registration is patient-initiated through a secure online portal (www.fkrp-registry.org). Participants give their informed consent and are invited to complete questionnaires about their condition, including: genetic confirmation; clinical diagnosis; current and best motor function; wheelchair use; ventilation status and quality of life. Data is securely stored in the UK and is accessed only by the Principal Investigator of the Global FKRP Registry and specific, identified members of the registries team at the John Walton Muscular Dystrophy Research Centre, Newcastle University. Registry governance is overseen by a steering committee composed of clinicians, patients and patient organisation representatives. Data collected is used to inform research and aid in the planning and recruitment of clinical trials. However, identifiable patient data will never be released and only anonymised data is available upon approval from the registry steering committee.
Research programme
The Global FKRP Registry is an international registry (database) for individuals with muscular dystrophies caused by mutation of the Fukutin-Related Protein gene (FKRP). The registry collects information about the patients’ condition and their gene mutation. The purpose of the registry is to aid the rapid identification of eligible patients for clinical studies and to provide a vital source of information to academics, industry, healthcare professionals and regulatory authorities. The registry helps further our understanding of the natural history and prevalence of FKRP-related conditions. Also, the registry is used to disseminate FKRP-relevant information to participants and support the FKRP community. Registration is patient-initiated and achieved online through the registry website (www.fkrp-registry.org). The registry project is presented to patients and their consent sort before they are able to enter their data. All information is password-protected and stored securely. Patients are also able to nominate their doctor to enter clinical data on their behalf. Anonymised registry data is only released to researchers upon Steering Committee approval. Patients affected by FKRP gene mutation are rare. Without a global patient registry to gather details from patients, the identification of patients in sufficient numbers for a meaningful trial is challenging, delaying the testing of potential therapies.
Research database title
Global FKRP Registry
Establishment organisation
Newcastle University
Establishment organisation address
John Walton Muscular Dystrophy Research Centre
International Centre for Life
Newcastle upon Tyne
NE1 3BZ