NCT03018184

Brief Summary

Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the thigh and calf in patients affected by inherited muscle diseases.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
31

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Dec 2016

Geographic Reach
1 country

1 active site

Status
completed

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 Start

First participant enrolled

December 1, 2016

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

January 10, 2017

Completed
1 day until next milestone

First Posted

Study publicly available on registry

January 11, 2017

Completed
1.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2018

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2018

Completed
Last Updated

July 15, 2024

Status Verified

July 1, 2024

Enrollment Period

1.4 years

First QC Date

January 10, 2017

Last Update Submit

July 12, 2024

Conditions

Inherited Muscle DiseasesCongenital MyopathyRYR1-myopathy

Keywords

MRICCSAContractile Cross Sectional AreaStrength

Outcome Measures

Primary Outcomes (2)

  • Muscle CCSA, investigated by Dixon MRI techniques.

    The MRI protocol include a whole body scan. The calf and thigh are chosen for qualitative analysis. Cross sectional area is calculated, the amount of adipose tissue is calculated, and the amount of adipose tissue is subtracted from the CSA, resulting in the CCSA.

    MRI scan per subject lasts approximately 60 minutes.

  • Muscle strength, measured as peak torque, investigated by an isokinetic dynamometer (Biodex 4).

    The dynamometer makes it possible to isolate particular muscle groups. It is possible to control the range of motion and thereby test in an area free of pain.

    The tests takes less than an hour per subject.

Secondary Outcomes (1)

  • Muscle Strength, MRC

    The exam lasts less than 15 min per subject.

Interventions

MRI and Muscle DynamometerOTHER

Eligibility Criteria

Age18 Years - 80 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with verified inherited muscle disease.

You may qualify if:

  • Verified inherited muscle disease.
  • Age: Over 18 years old

You may not qualify if:

  • Contraindications for an MRI.
  • Claustrophobia.
  • Pregnant or nursing women.
  • Competing disorders (as arthritis) or other muscle disorders.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Copenhagen Neuromuscular Center, Rigshospitalet

Copenhagen, 2100, Denmark

Location

Related Publications (5)

  • Congenital Myopathies: Background, Pathophysiology, Epidemiology [Internet]. [henvist 18. oktober 2016]. Tilgængelig hos: http://emedicine.medscape.com/article/1175852-overview

    BACKGROUND

  • Hilton-Jones D, Martin R. Turner. Oxford Textbook of Neuromuscular Disorders. I: Oxford Textbook of Neuromuscular Disorders. Oxford; s. 277-87.

    BACKGROUND

  • Congenital Myopathies Clinical Presentation: History, Causes [Internet]. [henvist 18. oktober 2016]. Tilgængelig hos: http://emedicine.medscape.com/article/1175852-clinical

    BACKGROUND

  • Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, Bittner C, Fialka-Moser V. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med. 2008 Aug;40(8):665-71. doi: 10.2340/16501977-0235.

    PMID: 19020701BACKGROUND

  • Lokken N, Hedermann G, Thomsen C, Vissing J. Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I. Ann Neurol. 2016 Sep;80(3):466-71. doi: 10.1002/ana.24743. Epub 2016 Aug 10.

    PMID: 27463532BACKGROUND

MeSH Terms

Conditions

Myotonia Congenita

Interventions

Magnetic Resonance Spectroscopy

Condition Hierarchy (Ancestors)

Myotonic DisordersMuscular DiseasesMusculoskeletal DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesNeuromuscular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Spectrum AnalysisChemistry Techniques, AnalyticalInvestigative Techniques

Study Officials

  • John Vissing, MD DMSc

    Copenhagen Neuromuscular Center, Rigshospitalet

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
BSc Med.

Study Record Dates

First Submitted

January 10, 2017

First Posted

January 11, 2017

Study Start

December 1, 2016

Primary Completion

May 1, 2018

Study Completion

May 1, 2018

Last Updated

July 15, 2024

Record last verified: 2024-07

Data Sharing

IPD Sharing
Will not share

Locations

DK(1)