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Active, Not Recruiting

NCT Number: NCT05206617

3 Year Follow up on ANO5 Patients

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

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Neuromuscular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Disease Progression Genetic Diseases, Inborn Limb Girdle Muscular Dystrophy Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Musculoskeletal Diseases Nervous System Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Copenhagen Neuromuscular Center

Copenhagen, Capital Region, 2100, Denmark

About this study

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:

  • investigate possible progression of disease over time
  • investigate good and reliable outcome measures

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

None

Treatment and study plan

No intervention - pure observational study

Other

No intervention

Primary outcomes

  1. Change in fat fraction during 3 years

    Time frame: 40 minutes

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

Secondary outcomes

  1. Change in fatigue during 3 years

    Time frame: 5 minutes

    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.

  2. Change in quality of life during 3 years

    Time frame: 15 minutes

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

  3. Change in pain and function during 3 years

    Time frame: 10 minutes

    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.

  4. Change in motor function during 3 years

    Time frame: 30 minutes

    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.

  5. Change in handgrip during 3 years

    Time frame: 10 minutes

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

  6. Change in whole body muscle strenght during 3 years

    Time frame: 30 minutes

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

  7. Change in muscle strenght during 3 years

    Time frame: 30 minutes

    Change in muscle strenght in knee, hip and back during 3 years measured using a staionary dynamometer (a biodex dynamometer)

  8. Change in balance during 3 years

    Time frame: 20 minutes

    Change in balance during 3 years measured using a biosway

Sponsors and collaborators

Lead sponsor

Rigshospitalet, Denmark

Other

Collaborators

  • Funding: Aase og Ejnar Danielsens Foundation
  • Funding: Foundation for research in Neurology
  • Funding: Grosserer L. F. Foghts Foundation
  • Funding: Oda og Hans Svenningens Foundation
  • Funding: Torben og Alice Frimodts Foundation
  • Funding: Torkild Steensbecks Legat
  • Funding: Toyota Foundation
  • The Hede Nielsen Family Foundation

Registry information

Official study title

3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants

Important dates

Study start
2018
Primary completion
2021
Study completion
2026
First posted
Jan 25, 2022
Registry last updated
Apr 6, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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