Global FKRP Registry

Limb Girdle Muscular Dystrophy Clinical Trial

Official title:

Global Fukutin-Related Protein Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04001595
• Other study ID #: 23NE0222
• Status: Recruiting
• Start date: November 2013
• Est. completion date: December 2025

Study information

• Verified date: January 2024
• Source: Newcastle University
• Contact: Patient Registry Manager and Curator
• Phone: 0191 2418640
• Email: fkrpregistry[@]newcastle.ac.uk
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: December 2025
• Est. primary completion date: December 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

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

Intervention

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

Locations

Country	Name	City	State
United Kingdom	John Walton Muscular Dystrophy Research Centre, Newcastle University	Newcastle upon Tyne

Sponsors (4)

Lead Sponsor	Collaborator
Newcastle University	CureLGMD2i, LGMD2i Research Fund, Ludwig-Maximilians - University of Munich

Country where clinical trial is conducted

United Kingdom, 

References & 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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Patient questionnaire	Patient-reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.	12 months
Primary	McGill Pain Questionnaire	Patient-reported current pain.	12 months
Primary	Individualized Neuromuscular Quality of Life questionnaire (INQoL)	Patient-reported quality of life.	12 months
Primary	Clinician questionnaire	Doctor-reported clinical data, including respiratory and cardiac test results and genetic confirmation of FKRP mutation.	12 months

External Links

•   Global FKRP Registry website