Global FKRP Registry

Global Fukutin-Related Protein Registry

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.

Study Overview

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

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 Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Patient Registry manager and curator; Phone Number: 0191 2418640; Email: fkrpregistry@newcastle.ac.uk
• Study Contact Backup: Name: Patient Registry Team; Email: registries@newcastle.ac.uk

Study Locations

• United Kingdom
  • Newcastle upon Tyne, United Kingdom, NE1 3BZ
    • Recruiting
    • John Walton Muscular Dystrophy Research Centre, Newcastle University
    • Principal Investigator: Volker Straub, MD, PhD
    • Contact: Patient Registry manager and curator; Phone Number: 0191 2418640; Email: fkrpregistry@newcastle.ac.uk
    • Contact: Patient Registry Team; Email: registries@newcastle.ac.uk

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Participants with FKRP gene mutation	Other: Patient Registry; Participants who have volunteered to participate will complete various questionnaires relating to their condition.

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Newcastle University
• Collaborators: Ludwig-Maximilians - University of Munich; LGMD2i Research Fund; CureLGMD2i
• Investigators: Principal Investigator: Volker Straub, MD, PhD, John Walton Muscular Dystrophy Research Centre

Publications and helpful links

General Publications

• Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmuller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28.
• Richardson M, Mayhew A, Muni-Lofra R, Murphy LB, Straub V. Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases. J Clin Med. 2021 Nov 25;10(23):5517. doi: 10.3390/jcm10235517.

Helpful Links

• Global FKRP Registry website

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2013
• Primary Completion (Estimated): December 1, 2025
• Study Completion (Estimated): December 1, 2025

Study Registration Dates

• First Submitted: June 25, 2019
• First Submitted That Met QC Criteria: June 27, 2019
• First Posted (Actual): June 28, 2019

Study Record Updates

• Last Update Posted (Actual): January 30, 2024
• Last Update Submitted That Met QC Criteria: January 26, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Keywords: Congenital Muscular Dystrophy; Limb Girdle Muscular Dystrophy; LGMD2I; LGMDR9; Muscle-Eye-Brain Disease; Walker-Warburg Syndrome; FKRP gene mutation
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Eye Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Eye Diseases, Hereditary; Muscular Disorders, Atrophic; Malformations of Cortical Development; Nervous System Malformations; Cobblestone Lissencephaly; Lissencephaly; Malformations of Cortical Development, Group II; Muscular Dystrophies; Brain Diseases; Muscular Dystrophies, Limb-Girdle; Walker-Warburg Syndrome
• Other Study ID Numbers: 23NE0222

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No