NCT04001595

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
1,000

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Nov 2013

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 1, 2013

Completed
5.6 years until next milestone

First Submitted

Initial submission to the registry

June 25, 2019

Completed
3 days until next milestone

First Posted

Study publicly available on registry

June 28, 2019

Completed
6.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2025

Completed
Last Updated

January 30, 2024

Status Verified

January 1, 2024

Enrollment Period

12.1 years

First QC Date

June 25, 2019

Last Update Submit

January 26, 2024

Conditions

LGMD2ILGMDR9Limb Girdle Muscular DystrophyCongenital Muscular DystrophyMuscle-Eye-Brain DiseaseWalker-Warburg SyndromeFKRP Gene Mutation

Keywords

LGMD2ILGMDR9Limb Girdle Muscular DystrophyCongenital Muscular DystrophyMuscle-Eye-Brain DiseaseWalker-Warburg SyndromeFKRP gene mutation

Outcome Measures

Primary Outcomes (4)

  • 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

Study Arms (1)

Participants with FKRP gene mutation

Other: Patient Registry

Interventions

Patient RegistryOTHER

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

Participants with FKRP gene mutation

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

John Walton Muscular Dystrophy Research Centre, Newcastle University

Newcastle upon Tyne, NE1 3BZ, United Kingdom

RECRUITING

Related Publications (2)

  • 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.

    PMID: 32342672BACKGROUND

  • 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.

    PMID: 34884219BACKGROUND

Related Links

MeSH Terms

Conditions

Muscular Dystrophy, Limb-Girdle, Type 2IMuscular Dystrophies, Limb-GirdleWalker-Warburg Syndrome

Condition Hierarchy (Ancestors)

Muscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCobblestone LissencephalyLissencephalyMalformations of Cortical Development, Group IIMalformations of Cortical DevelopmentNervous System MalformationsEye Diseases, HereditaryEye DiseasesCongenital Abnormalities

Study Officials

  • Volker Straub, MD, PhD

    John Walton Muscular Dystrophy Research Centre

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Patient Registry Manager and Curator

CONTACT

0191 2418640fkrpregistry@newcastle.ac.uk

Patient Registry Team

CONTACT

registries@newcastle.ac.uk

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
10 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 25, 2019

First Posted

June 28, 2019

Study Start

November 1, 2013

Primary Completion

December 1, 2025

Study Completion

December 1, 2025

Last Updated

January 30, 2024

Record last verified: 2024-01

Data Sharing

IPD Sharing
Will not share

Locations

GB(1)