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Global FKRP Registry

NCT04001595 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2024-01-30

No results posted yet for this study

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.

Conditions

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

Interventions

OTHER

Patient Registry

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

Sponsors & Collaborators

  • LGMD2i Research Fund

    collaborator UNKNOWN

  • CureLGMD2i

    collaborator UNKNOWN

  • Ludwig-Maximilians - University of Munich

    collaborator OTHER

  • Newcastle University

    lead OTHER

Principal Investigators

  • Volker Straub, MD, PhD · John Walton Muscular Dystrophy Research Centre

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-11-30
Primary Completion
2025-12-31
Completion
2025-12-31

Countries

  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04001595 on ClinicalTrials.gov