3 Year Follow up on ANO5 Patients

Neuromuscular Diseases Clinical Trial

Official title:

3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05206617
• Other study ID #: H-16030358
• Status: Active, not recruiting
• Start date: January 1, 2018
• Est. completion date: November 1, 2025

Study information

• Verified date: November 2023
• Source: Rigshospitalet, Denmark
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 17
• Est. completion date: November 1, 2025
• Est. primary completion date: June 1, 2021
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Pathogenic variant in the anoctamin 5 gene

• Age more than 18 years

Exclusion Criteria:

None

Related Conditions & MeSH terms

• Limb Girdle Muscular Dystrophy
• Muscular Dystrophies
• Neuromuscular Diseases

Intervention

Other:
• No intervention - pure observational study
No intervention

Locations

Country	Name	City	State
Denmark	Copenhagen Neuromuscular Center	Copenhagen	Region Hovedstaden

Sponsors (9)

Lead Sponsor	Collaborator
Rigshospitalet, Denmark	Funding: Aase og Ejnar Danielsens Foundation, Funding: Foundation for research in Neurology, Funding: Grosserer L. F. Foghts Foundation, Funding: Hede Nielsen Foundation, Funding: Oda og Hans Svenningens Foundation, Funding: Torben og Alice Frimodts Foundation, Funding: Torkild Steensbecks Legat, Funding: Toyota Foundation

Country where clinical trial is conducted

Denmark, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in fat fraction during 3 years	Change in fat fraction (%) during 3 years in muscles from the whole body measured from Dixon MRI.	40 minutes
Secondary	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.	5 minutes
Secondary	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.	15 minutes
Secondary	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.	10 minutes
Secondary	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.	30 minutes
Secondary	Change in handgrip during 3 years	Change in handgrip during 3 years measured using a handgrip dynamometer.	10 minutes
Secondary	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) '	30 minutes
Secondary	Change in muscle strenght during 3 years	Change in muscle strenght in knee, hip and back during 3 years measured using a staionary dynamometer (a biodex dynamometer)	30 minutes
Secondary	Change in balance during 3 years	Change in balance during 3 years measured using a biosway	20 minutes