Neuromuscular DiseasesNCT05206617
3 Year Follow up on ANO5 Patients
An observational study of Neuromuscular Diseases and Limb Girdle Muscular Dystrophy, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
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 Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Neuromuscular Diseases, Limb Girdle Muscular Dystrophy
- How many people
- 17 participants
- Where
- 1 siteDenmark
- Study dates
- 1 Jan 2018to 1 Nov 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Adult, Older adult
Study population: Patients with pathogenic variants in the anoctamin 5 gene are recruited from the Copenhagen Neuromuscular Center, Rigshospitalet, in Denmark.
Who may be able to join
- Pathogenic variant in the anoctamin 5 gene
- Age more than 18 years
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
Denmark1 site
Copenhagen Neuromuscular Center
Copenhagen, Capital Region, 2100
About this study
Official title: 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:
- investigate possible progression of disease over time
- investigate good and reliable outcome measures
Read the 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:
- investigate possible progression of disease over time
- investigate good and reliable outcome measures
- Being tested
- No intervention - pure observational study
- Keywords
- MRI, Neuromuscular disorder, Outcome measure, Progression
- Medical subject headings
- Neuromuscular Diseases, Muscular Dystrophies, Limb-Girdle, Disease Progression
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No intervention - pure observational studyOther
No intervention
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: No intervention - pure observational study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in fat fraction during 3 years
Change in fat fraction (%) during 3 years in muscles from the whole body measured from Dixon MRI.
Measured: 40 minutes
Secondary outcomes (8)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 30 minutes
Change in handgrip during 3 years
Change in handgrip during 3 years measured using a handgrip dynamometer.
Measured: 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) '
Measured: 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)
Measured: 30 minutes
Change in balance during 3 years
Change in balance during 3 years measured using a biosway
Measured: 20 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jan 2022
- Study start1 Jan 2018
- Primary completion1 Jun 2021
- Study completion1 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neuromuscular DiseasesStudies of the same condition, open and under way.
- More trials run by Copenhagen University Hospital, RigshospitaletThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 17 participants (actual)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Collaborators
- Funding: Toyota Foundation, The Hede Nielsen Family 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
- Responsible party
- Principal investigator, Nanna Scharff Poulsen, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05206617
- Sponsor's protocol ID
- H-16030358
- Status last verified
- Aug 2026
- First submitted
- 11 Jan 2022
- Last updated
- 12 Aug 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 12 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants
- ClinicalTrials.gov ID
- NCT05206617
- Acronym / sponsor ID
- H-16030358
- Keywords
- MRI, Neuromuscular disorder, Outcome measure, Progression
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 17 participants (actual)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Collaborators
- Funding: Toyota Foundation, The Hede Nielsen Family 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 start
- 1 Jan 2018 (actual)
- Primary completion
- 1 Jun 2021 (actual)
- Study completion
- 1 Nov 2026 (estimated)
- First posted
- 25 Jan 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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:
- investigate possible progression of disease over time
- investigate good and reliable outcome measures
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Limb Girdle Muscular Dystrophy type 2L | – | Other: No intervention - pure observational studyAt baseline, 1- and 3-year follow up will the outcome measures be assessed. There will be no intervention. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Patients with pathogenic variants in the anoctamin 5 gene are recruited from the Copenhagen Neuromuscular Center, Rigshospitalet, in Denmark.
Key inclusion criteria (2 listed)
- Pathogenic variant in the anoctamin 5 gene
- Age more than 18 years
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No intervention - pure observational studyNo intervention | Other | Limb Girdle Muscular Dystrophy type 2L |
Primary outcome
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.
8 secondary outcomes
Change in fatigue during 3 years
Time frame: 5 minutes
Change in quality of life during 3 years
Time frame: 15 minutes
Change in pain and function during 3 years
Time frame: 10 minutes
Change in motor function during 3 years
Time frame: 30 minutes
Change in handgrip during 3 years
Time frame: 10 minutes
Change in whole body muscle strenght during 3 years
Time frame: 30 minutes
Change in muscle strenght during 3 years
Time frame: 30 minutes
Change in balance during 3 years
Time frame: 20 minutes
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Aug 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuromuscular Diseases and Limb Girdle Muscular Dystrophy, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 12 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in fat fraction during 3 years (time frame: 40 minutes). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Aug 2026.