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Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy (CICS)

NCT02897921 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 240

Last updated 2018-05-21

No results posted yet for this study

Summary

Many myopathies are inherited in a recessive manner, but in some of these recessively inherited disorders, clinical manifestations may potentially manifest in carriers of just a single mutation.

The aim of the study is to describe the clinical characteristics of single mutation carriers of recessive myopathy, through measuring serum creatine kinase, muscle strength, muscle degeneration (by MRI) and heart affection. The investigators will do this by blood sampling, Biodex 4 Isokinetic Dynamometer, MRI analysis, ECG, Holter monitoring, and echocardiography.

The aim is further to describe whether these characteristics are found primarily with specific mutations.

Conditions

  • Recessive Gene Myopathies

Sponsors & Collaborators

  • Rigshospitalet, Denmark

    lead OTHER

Principal Investigators

  • Tove Freja M Fornander, B. Sc. · Copenhagen Neuromuscular Center

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-10-31
Primary Completion
2020-05-31
Completion
2021-08-31

Countries

  • Denmark

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02897921 on ClinicalTrials.gov