NCT05102799

Brief Summary

A large cohort of MRI scans from patients with pathogenic variants in the anoctamin 5 gene will be collected through an international collaboration to better describe muscle involvement.

Trial Health

77
On Track

Trial Health Score

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

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
3mo left

Started Apr 2021

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
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 Progress96%
Apr 2021Aug 2026

Study Start

First participant enrolled

April 1, 2021

Completed
7 months until next milestone

First Submitted

Initial submission to the registry

October 20, 2021

Completed
13 days until next milestone

First Posted

Study publicly available on registry

November 2, 2021

Completed
4.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2026

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2026

Expected
Last Updated

April 6, 2025

Status Verified

April 1, 2025

Enrollment Period

4.8 years

First QC Date

October 20, 2021

Last Update Submit

April 2, 2025

Conditions

Limb Girdle Muscular Dystrophy

Keywords

Anoctaminophathies

Outcome Measures

Primary Outcomes (1)

  • Qualitative fat fraction lower back and legs

    Qualitative muscle fat fraction analyses of lower back and legs evaluated from T1-weighted images using the Mercury score (score: 0-4)

    15 minutes

Secondary Outcomes (3)

  • Qualitative fat fraction of whole body

    15 minutes

  • Quantitative fat fraction of axial and leg muscles

    60 minutes

  • Inflammatory evaluation of axial and leg muscles

    60 minutes

Study Arms (1)

Anoctaminopathies

Anoctaminopathies including Limb Girdle Muscular Dystrophy R12, Miyoshi distal Muscular Dystrophy type 3 and asymptomatic hyperCKemia

Other: No intervention

Interventions

No interventionOTHER

No intervention

Anoctaminopathies

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

MRIs of patients with pathogenic variants in the anoctamin 5 gene will be examined. The MRIs are obtained from either former studies or as part of clinical evaluation in the collaborating countries.

You may qualify if:

  • Two pathogenic variants in the anoctamin-5 gene
  • T1-weighted MR-images of lower back and leg muscles.

You may not qualify if:

  • \- Concomitant other disorders that also can result in muscular atrophy, i.e. polyneuropathy, other muscle diseases, recent long-term stay in intensive care, among others.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Nanna Scharff Poulsen

Copenhagen, 2100, Denmark

RECRUITING

Related Publications (9)

  • Little AA, McKeever PE, Gruis KL. Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L. Muscle Nerve. 2013 Feb;47(2):287-91. doi: 10.1002/mus.23542. Epub 2012 Nov 21.

    PMID: 23169617BACKGROUND

  • Witting N, Duno M, Petri H, Krag T, Bundgaard H, Kober L, Vissing J. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. J Neurol. 2013 Aug;260(8):2084-93. doi: 10.1007/s00415-013-6934-y. Epub 2013 May 14.

    PMID: 23670307BACKGROUND

  • Palmio J, Penttila S, Jokela M. ANO5-Related Muscle Disease. 2012 Nov 29 [updated 2025 May 15]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK114459/

    PMID: 23193613BACKGROUND

  • Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Glaser D, Carlier PG, Bushby K, Lochmuller H, Straub V. Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122-9. doi: 10.1016/j.nmd.2012.05.012.

    PMID: 22980763BACKGROUND

  • Ten Dam L, van der Kooi AJ, Rovekamp F, Linssen WH, de Visser M. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. Neuromuscul Disord. 2014 Dec;24(12):1097-102. doi: 10.1016/j.nmd.2014.07.004. Epub 2014 Aug 1.

    PMID: 25176504BACKGROUND

  • Silva AMS, Coimbra-Neto AR, Souza PVS, Winckler PB, Goncalves MVM, Cavalcanti EBU, Carvalho AADS, Sobreira CFDR, Camelo CG, Mendonca RDH, Estephan EDP, Reed UC, Machado-Costa MC, Dourado-Junior MET, Pereira VC, Cruzeiro MM, Helito PVP, Aivazoglou LU, Camargo LVD, Gomes HH, Camargo AJSD, Pinto WBVDR, Badia BML, Libardi LH, Yanagiura MT, Oliveira ASB, Nucci A, Saute JAM, Franca-Junior MC, Zanoteli E. Clinical and molecular findings in a cohort of ANO5-related myopathy. Ann Clin Transl Neurol. 2019 Jul;6(7):1225-1238. doi: 10.1002/acn3.50801. Epub 2019 Jun 11.

    PMID: 31353849BACKGROUND

  • Mahjneh I, Bashir R, Kiuru-Enari S, Linssen W, Lamminen A, Visser Md. Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S130-6. doi: 10.1016/j.nmd.2012.02.007.

    PMID: 22980764BACKGROUND

  • Khawajazada T, Kass K, Rudolf K, de Stricker Borch J, Sheikh AM, Witting N, Vissing J. Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency. Eur J Neurol. 2021 Sep;28(9):3121-3132. doi: 10.1111/ene.14979. Epub 2021 Jul 11.

    PMID: 34145687BACKGROUND

  • Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CD, Thornton JS, Bushby K, Lochmuller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One. 2013 Aug 14;8(8):e70993. doi: 10.1371/journal.pone.0070993. eCollection 2013.

    PMID: 23967145BACKGROUND

MeSH Terms

Conditions

Muscular Dystrophies, Limb-Girdle

Condition Hierarchy (Ancestors)

Muscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Nanna S Poulsen, MD

CONTACT

+4535454346Nanna.scharff.poulsen@regionh.dk

John Vissing, MD, DMSc

CONTACT

john.vissing@regionh.dk

Study Design

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

Study Record Dates

First Submitted

October 20, 2021

First Posted

November 2, 2021

Study Start

April 1, 2021

Primary Completion

February 1, 2026

Study Completion (Estimated)

August 1, 2026

Last Updated

April 6, 2025

Record last verified: 2025-04

Data Sharing

IPD Sharing
Will not share

Locations

DK(1)