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The Global FKRP Patient Registry

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04001595
Recruitment Status : Recruiting
First Posted : June 28, 2019
Last Update Posted : October 6, 2020
Information provided by (Responsible Party):
Newcastle University

Brief Summary:

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.

Condition or disease Intervention/treatment
LGMD2I LGMDR9 Limb Girdle Muscular Dystrophy Congenital Muscular Dystrophy Muscle-Eye-Brain Disease Walker-Warburg Syndrome FKRP Gene Mutation Other: Patient Registry

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 800 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 6 Years
Official Title: The Global FKRP Patient Registry
Actual Study Start Date : November 2013
Estimated Primary Completion Date : December 2021
Estimated Study Completion Date : December 2021

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

Primary Outcome Measures :
  1. Patient questionnaire [ Time Frame: 12 months ]
    Patient reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.

  2. McGill Pain Questionnaire [ Time Frame: 12 months ]
    Patient reported current pain.

  3. The Individualized Neuromuscular Quality of Life questionnaire (INQoL) [ Time Frame: 12 months ]
    Patient reported quality of life.

  4. Clinician questionnaire [ Time Frame: 12 months ]
    Clinician reported cardiac and respiratory measures including ventilation status, and genetic confirmation of FKRP mutation.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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 will volunteer to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences and meetings.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04001595

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Contact: Registry Project Manager and Curator 0191 2418640

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United Kingdom
The John Walton Muscular Dystrophy Research Centre Recruiting
Newcastle upon-Tyne, United Kingdom, NE1 3BZ
Contact: Registry Project Manager and Curator    0191 2418640   
Principal Investigator: Volker Straub, MD, PhD         
Sponsors and Collaborators
Newcastle University
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Principal Investigator: Volker Straub, MD, PhD The John Walton Muscular Dystrophy Research Centre
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Responsible Party: Newcastle University Identifier: NCT04001595    
Other Study ID Numbers: 18/NE/0326
First Posted: June 28, 2019    Key Record Dates
Last Update Posted: October 6, 2020
Last Verified: June 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Newcastle University:
Limb Girdle Muscular Dystrophy
Congenital Muscular Dystrophy
Muscle-Eye-Brain Disease
Walker-Warburg Syndrome
FKRP gene mutation
Additional relevant MeSH terms:
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Walker-Warburg Syndrome
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Brain Diseases
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Central Nervous System Diseases
Cobblestone Lissencephaly
Malformations of Cortical Development, Group II
Malformations of Cortical Development
Nervous System Malformations
Eye Diseases, Hereditary
Eye Diseases
Congenital Abnormalities