Limb Girdle Muscular Dystrophy Clinical Trial
Official title:
Global Fukutin-Related Protein Registry
NCT number | NCT04001595 |
Other study ID # | 23NE0222 |
Secondary ID | |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | November 2013 |
Est. completion date | December 2025 |
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.
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. |
Country | Name | City | State |
---|---|---|---|
United Kingdom | John Walton Muscular Dystrophy Research Centre, Newcastle University | Newcastle upon Tyne |
Lead Sponsor | Collaborator |
---|---|
Newcastle University | CureLGMD2i, LGMD2i Research Fund, Ludwig-Maximilians - University of Munich |
United Kingdom,
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
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 |
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