3 Year Follow up on ANO5 Patients

3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants

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 Overview

• Status: Active, not recruiting
• Conditions: Neuromuscular Diseases; Limb Girdle Muscular Dystrophy
• Intervention / Treatment: Other: No intervention - pure observational study

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

• Study Type: Observational
• Enrollment (Actual): 17

Contacts and Locations

Study Locations

• Denmark
  • Region Hovedstaden
    • Copenhagen, Region Hovedstaden, Denmark, 2100
      • Copenhagen Neuromuscular Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A

• 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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

None

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Limb Girdle Muscular Dystrophy type 2L; At baseline, 1- and 3-year follow up will the outcome measures be assessed. There will be no intervention.	Other: No intervention - pure observational study; No intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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
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
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
Change in handgrip during 3 years	Change in handgrip during 3 years measured using a handgrip dynamometer.	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) '	30 minutes
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
Change in balance during 3 years	Change in balance during 3 years measured using a biosway	20 minutes

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2018
• Primary Completion (Actual): June 1, 2021
• Study Completion (Estimated): November 1, 2025

Study Registration Dates

• First Submitted: January 11, 2022
• First Submitted That Met QC Criteria: January 11, 2022
• First Posted (Actual): January 25, 2022

Study Record Updates

• Last Update Posted (Estimated): November 16, 2023
• Last Update Submitted That Met QC Criteria: November 15, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: MRI; Progression; Neuromuscular disorder; Outcome measure
• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Neuromuscular Diseases
• Other Study ID Numbers: H-16030358

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No