Global FKRP Registry

Recruiting

• Conditions: Walker-Warburg Syndrome; LGMD2I; LGMDR9; Congenital Muscular Dystrophy; Muscle-Eye-Brain Disease; FKRP Gene Mutation; Limb Girdle Muscular Dystrophy
• Interventions: Other: Patient Registry

• Registration Number: NCT04001595
• Lead Sponsor: Newcastle University

Brief Summary

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

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.

Study Timeline

• Study Start: 2013-11
• Study First Submitted: 2019-06-25
• Study First Submitted QC: 2019-06-27
• Study First Posted: 2019-06-28
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-26
• Last Update Posted: 2024-01-30
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Participants with FKRP gene mutation	Patient Registry	-

Primary Outcome Measures

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

Trial Locations

Locations (1)

John Walton Muscular Dystrophy Research Centre, Newcastle University; 🇬🇧 Newcastle upon Tyne, United Kingdom