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MR in Patients With Collagen VI Related Myopathies

NCT03693898 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 20

Last updated 2018-10-10

No results posted yet for this study

Summary

Collagen VI-related diseases include Bethlem myopathy and Ulrich dystrophy. They are both caused by decreased levels or a lack of collagen VI. The first symptoms can be present at birth as joint laxity and hypotonic muscles; often seen with luxation of the hip and scoliosis. During childhood, patients may develop contractures of fingers, wrists, elbows and ankles. Muscle weakness often appears in childhood to early adulthood and is progressive. It often results in walking difficulties.

There is no treatment available for Behtlem and Ulrich dystrophies.

The primary aim of this study is to investigate the pattern of involved muscles, the function and quality of the muscles and the disease severity using MRI.

Conditions

  • Bethlem Myopathy
  • Ullrich Disease

Interventions

OTHER

Observeational

No intervention, observational

Sponsors & Collaborators

  • Ruth Salim

    lead OTHER

Principal Investigators

  • John Vissing, Prof., MD · CNMC, Rigshospitalet

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2018-09-01
Primary Completion
2019-05-01
Completion
2019-05-01

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 NCT03693898 on ClinicalTrials.gov