An observational study in LGMD2I, LGMDR9 and Limb Girdle Muscular Dystrophy, sponsored by Newcastle University. Recruiting at 1 site in United Kingdom. Per ClinicalTrials.gov, last updated 2024-01-30.
Sponsored by Newcastle University · Observational
Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2I, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMDR9 is the most common FKRP-related condition, and is especially prevalent in Northern Europe.
The aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease globally. By maintaining a global registry this will help identify potential participants eligible for clinical trials in the future.
The Global FKRP Registry (https://www.fkrp-registry.org/) is an international registry for patients with an FKRP-related condition; no experimental intervention is involved. Patients will receive information on the most up to date standards of care relating to their disease and may be invited to participate in relevant clinical trials. Their data will be updated annually and stored indefinitely, or until they request their data to be removed.
The data will be collected via an online form and will be stored on a secure server based in the United Kingdom and looked after by the registry staff at Newcastle University. Data collected from patients will include demographic information, diagnosis, current condition, age of onset, medication, contractures, family history and results of genetic testing, if available. Other optional questionnaires will focus on patients' pain and quality of life. Further information collected from patients' doctors will include, heart and lung function, muscle strength, muscle and brain MRI findings and genetics.
The FKRP registry is funded by LGMD2i Research Fund and CureLGMD2i.
The primary objectives of the Global FKRP Registry are to:
548 studies on the registry are indexed under Muscular Dystrophies; 89 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 69 across 179 observational studies indexed under Muscular Dystrophies.
Browse Muscular Dystrophies studies →Newcastle University is the lead sponsor of 59 studies on the registry; 15 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Participants who have undergone genetic testing for an FKRP-related condition or have a confirmed diagnosis of an FKRP-related condition can self-register to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences.
Exclusion Criteria:
Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
Patient questionnaire
Patient-reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.
Time frame: 12 months
McGill Pain Questionnaire
Patient-reported current pain.
Time frame: 12 months
Individualized Neuromuscular Quality of Life questionnaire (INQoL)
Patient-reported quality of life.
Time frame: 12 months
Clinician questionnaire
Doctor-reported clinical data, including respiratory and cardiac test results and genetic confirmation of FKRP mutation.
Time frame: 12 months
Plan to share: No
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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