NCT05206617

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

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
17

participants targeted

Target at below P25 for all trials

Timeline
6mo left

Started Jan 2018

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress95%
Jan 2018Nov 2026

Study Start

First participant enrolled

January 1, 2018

Completed
3.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2021

Completed
7 months until next milestone

First Submitted

Initial submission to the registry

January 11, 2022

Completed
14 days until next milestone

First Posted

Study publicly available on registry

January 25, 2022

Completed
4.8 years until next milestone

Study Completion

Last participant's last visit for all outcomes

November 1, 2026

Expected
Last Updated

April 6, 2025

Status Verified

April 1, 2025

Enrollment Period

3.4 years

First QC Date

January 11, 2022

Last Update Submit

April 2, 2025

Conditions

Neuromuscular DiseasesLimb Girdle Muscular Dystrophy

Keywords

MRINeuromuscular disorderOutcome measureProgression

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (8)

  • Change in fatigue during 3 years

    5 minutes

  • Change in quality of life during 3 years

    15 minutes

  • Change in pain and function during 3 years

    10 minutes

  • Change in motor function during 3 years

    30 minutes

  • Change in handgrip during 3 years

    10 minutes

  • +3 more secondary outcomes

Study Arms (1)

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

Interventions

No intervention - pure observational studyOTHER

No intervention

Limb Girdle Muscular Dystrophy type 2L

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with pathogenic variants in the anoctamin 5 gene are recruited from the Copenhagen Neuromuscular Center, Rigshospitalet, in Denmark.

You may qualify if:

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

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Copenhagen Neuromuscular Center

Copenhagen, Capital Region, 2100, Denmark

Location

MeSH Terms

Conditions

Neuromuscular DiseasesMuscular Dystrophies, Limb-GirdleDisease Progression

Condition Hierarchy (Ancestors)

Nervous System DiseasesMuscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal investigator

Study Record Dates

First Submitted

January 11, 2022

First Posted

January 25, 2022

Study Start

January 1, 2018

Primary Completion

June 1, 2021

Study Completion (Estimated)

November 1, 2026

Last Updated

April 6, 2025

Record last verified: 2025-04

Locations

DK(1)