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More info
You can access this
clinical trial
if you have
Recessive Gene Myopathies
and you are
over 18
years old
This is an observational trial.
You are contributing to medical knowledge about your condition.
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The purpose

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.

Locations near you

Unfortunately, there are no recruiting locations near you. Please check the list with all locations below.
Tris trial is registered with FDA with number: NCT02897921. The sponsor of the trial is Rigshospitalet, Denmark and it is looking for 240 volunteers for the current phase.
Official trial title:
Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy