Clinical trial NCT04001595: Global FKRP Registry
Official title: Global Fukutin-Related Protein Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: LGMD2I
LGMDR9
Limb Girdle Muscular Dystrophy
Congenital Muscular Dystrophy
Muscle-Eye-Brain Disease
Walker-Warburg Syndrome
FKRP Gene Mutation
Keywords: LGMD2I
LGMDR9
Limb Girdle Muscular Dystrophy
Congenital Muscular Dystrophy
Muscle-Eye-Brain Disease
Walker-Warburg Syndrome
FKRP gene mutation
Lead sponsor: Newcastle University
Sponsor class: OTHER
Collaborators: name: LGMD2i Research Fund
name: CureLGMD2i
name: Ludwig-Maximilians - University of Munich
First posted: 2019-06-28
Enrollment: 1000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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 can self-register to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences.

Brief 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.

Detailed 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Patient questionnaire
timeFrame: 12 months
measure: McGill Pain Questionnaire
timeFrame: 12 months
measure: Individualized Neuromuscular Quality of Life questionnaire (INQoL)
timeFrame: 12 months
measure: Clinician questionnaire
timeFrame: 12 months
Secondary outcomes:
Other outcomes:
Locations:
city: Newcastle upon Tyne
country: United Kingdom
facility: John Walton Muscular Dystrophy Research Centre, Newcastle University
Study officials:
affiliation: John Walton Muscular Dystrophy Research Centre
name: Volker Straub, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
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.