Global Fukutin-Related Protein Registry

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational [Patient Registry]

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.

Participation Requirements
Sex: All
Healthy Volunteers: No

• All patients with a confirmed diagnosis of an FKRP-related condition are eligible for inclusion. Diagnosis will be confirmed via genetic testing results.

Other Locations
United Kingdom
John Walton Muscular Dystrophy Research Centre, Newcastle University
Newcastle Upon Tyne
Contact Information
Patient Registry manager and curator
0191 2418640
Patient Registry Team
Time Frame
Start Date: November 2013
Estimated Completion Date: December 2023
Target number of participants: 1000
Participants with FKRP gene mutation
Collaborators: Ludwig-Maximilians - University of Munich, LGMD2i Research Fund, CureLGMD2i
Leads: Newcastle University

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