Global FKRP Registry

Study Overview
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Brief Summary
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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.

Detailed Description
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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: Accelerate and facilitate clinical trials by locating potential research subjects quickly and efficiently Facilitate in the planning of clinical trials Assist the neuromuscular community with the development of recommendations and standards of care Characterise and describe the FKRP population as a whole, enhancing the understanding of the prevalence throughout the world.

Official Title
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Global Fukutin-Related Protein Registry

Conditions
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LGMD2I, LGMDR9, Limb Girdle Muscular Dystrophy, Congenital Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, FKRP Gene Mutation

Intervention / Treatment
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* Other: Patient Registry


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: All patients with a confirmed diagnosis of an FKRP-related condition are eligible for inclusion. Diagnosis will be confirmed via genetic testing results. Exclusion Criteria: There is no exclusion criteria for registration with this patient registry.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Participants with FKRP gene mutation<br> | Other: Patient Registry<br>* Participants who have volunteered to participate will complete various questionnaires relating to their condition.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Patient questionnaire | Patient-reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history. | 12 months | 
| McGill Pain Questionnaire | Patient-reported current pain. | 12 months | 
| Individualized Neuromuscular Quality of Life questionnaire (INQoL) | Patient-reported quality of life. | 12 months | 
| Clinician questionnaire | Doctor-reported clinical data, including respiratory and cardiac test results and genetic confirmation of FKRP mutation. | 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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LGMD2I, LGMDR9, Limb Girdle Muscular Dystrophy, Congenital Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, FKRP gene mutation