3 Year Follow up on ANO5 Patients

N/AActive Not RecruitingNCT05206617

Rigshospitalet, Denmark17 enrolled

Overview

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

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

Neuromuscular Diseases Limb Girdle Muscular Dystrophy

Interventions

No intervention - pure observational studyOTHER

No intervention

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Pathogenic variant in the anoctamin 5 gene * Age more than 18 years Exclusion Criteria: None

Locations (1)

Copenhagen Neuromuscular Center

Copenhagen, Capital Region, Denmark

Outcomes

Primary Outcomes

Change in fat fraction during 3 years

Change in fat fraction (%) during 3 years in muscles from the whole body measured from Dixon MRI.

Time frame: 40 minutes

Secondary Outcomes

Change in fatigue during 3 years

Change in fatigue during 3 years measured through the questionnaire 'fatigue severity score', FSS. 9 questions scoring from 1-7 where 7 correlates to "strongly agree". Higher score means more fatigue.

Time frame: 5 minutes

Change in quality of life during 3 years

Change in quality of life during 3 years measured through the questionnaire SF36. 36 questions. Higher score means higher quality of life.

Time frame: 15 minutes

Change in pain and function during 3 years

Change in pain and function in lower limbs during 3 years measured through the questionnaire 'low back pain rating scale ', LBPRS. 6 questions rated from 0-10 with 0 meaning no pain. Higher score means more pain.

Time frame: 10 minutes

Change in motor function during 3 years

Change in motor function during 3 years measured using the test the Motor Function Measure 32. 32 tasks to do, each task score 0-3. Higher score means better motor function.

Time frame: 30 minutes

Change in handgrip during 3 years

Change in handgrip during 3 years measured using a handgrip dynamometer.

Time frame: 10 minutes

Change in whole body muscle strenght during 3 years

Change in muscle strenght in whole body during 3 years measured using the technique 'manual muscle testning (MMT)' and the 'manual rating scale (MRC) '

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.