Clinical trial NCT05206617: 3 Year Follow up on ANO5 Patients
Official title: 3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Neuromuscular Diseases
Limb Girdle Muscular Dystrophy
Keywords: MRI
Neuromuscular disorder
Outcome measure
Progression
Lead sponsor: Rigshospitalet, Denmark
Sponsor class: OTHER
Collaborators: name: Funding: Toyota Foundation
name: The Hede Nielsen Family Foundation
name: Funding: Grosserer L. F. Foghts Foundation
name: Funding: Torben og Alice Frimodts Foundation
name: Funding: Aase og Ejnar Danielsens Foundation
name: Funding: Oda og Hans Svenningens Foundation
name: Funding: Torkild Steensbecks Legat
name: Funding: Foundation for research in Neurology
First posted: 2022-01-25
Enrollment: 17
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with pathogenic variants in the anoctamin 5 gene are recruited from the Copenhagen Neuromuscular Center, Rigshospitalet, in Denmark.

Brief summary: The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to:

1. investigate possible progression of disease over time
2. investigate good and reliable outcome measures

Detailed description: Muscles of patients with pathogenic variants in the anoctamin 5 gene will over time be infiltrated with fat. This is especially visible on MRI and can be seen even before any symptoms appear. MRI is thus used increasingly to investigate muscle affection in neuromuscular disorders. Together with functional measurements it is possible to describe how patients are affected clinically and subclinically. There are still many things that need covering - rate of progression is undertermined and good outcome measures are still needed for future clinical trials.

Muscles of the whole body in patients with neuromuscular disorders will be investigated 3 times through a 3 year follow-up study.

The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to:

1. investigate possible progression of disease over time
2. investigate good and reliable outcome measures

Eligibility criteria: Inclusion Criteria:

* Pathogenic variant in the anoctamin 5 gene
* Age more than 18 years

Exclusion Criteria:

None

Primary outcomes:
measure: Change in fat fraction during 3 years
timeFrame: 40 minutes
Secondary outcomes:
measure: Change in fatigue during 3 years
timeFrame: 5 minutes
measure: Change in quality of life during 3 years
timeFrame: 15 minutes
measure: Change in pain and function during 3 years
timeFrame: 10 minutes
measure: Change in motor function during 3 years
timeFrame: 30 minutes
measure: Change in handgrip during 3 years
timeFrame: 10 minutes
measure: Change in whole body muscle strenght during 3 years
timeFrame: 30 minutes
measure: Change in muscle strenght during 3 years
timeFrame: 30 minutes
measure: Change in balance during 3 years
timeFrame: 20 minutes
Other outcomes:
Locations:
city: Copenhagen
country: Denmark
facility: Copenhagen Neuromuscular Center
state: Region Hovedstaden
Study officials:
References: