The Global FKRP Patient Registry


Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type 2I (LGMD2I) also known as LGMDR9, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMD2I 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 Type

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 2021

Detailed Description

The Global FKRP Registry ( 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.


  • Other: Patient Registry
    • Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Arms, Groups and Cohorts

  • Participants with FKRP genetic mutation

Clinical Trial Outcome Measures

Primary Measures

  • Patient questionnaire
    • Time Frame: 12 months
    • Patient reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.
  • McGill Pain Questionnaire
    • Time Frame: 12 months
    • Patient reported current pain.
  • The Individualized Neuromuscular Quality of Life questionnaire (INQoL)
    • Time Frame: 12 months
    • Patient reported quality of life.
  • Clinician questionnaire
    • Time Frame: 12 months
    • Clinician reported cardiac and respiratory measures including ventilation status, and genetic confirmation of FKRP mutation.

Participating in This Clinical Trial

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.
  • Gender Eligibility: All

    Minimum Age: N/A

    Maximum Age: N/A

    Are Healthy Volunteers Accepted: No

    Investigator Details

    • Lead Sponsor
      • Newcastle University
    • Provider of Information About this Clinical Study
      • Sponsor
    • Overall Official(s)
      • Volker Straub, MD, PhD, Principal Investigator, The John Walton Muscular Dystrophy Research Centre
    • Overall Contact(s)
      • Registry Project Manager and Curator, 0191 2418640,

    Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.

    At, we keep tabs on over 200,000 clinical trials in the US and abroad, using medical data supplied directly by the US National Institutes of Health. Please see the About and Contact page for details.