Global FKRP Registry

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-11-30

Study Completion Date

2025-12-31

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.

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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.

Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Participants with FKRP gene mutation

Patient Registry

Intervention Type OTHER

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Interventions

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Patient Registry

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Intervention Type OTHER

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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No