MR in Patients With Collagen VI Related Myopathies

October 8, 2018 updated by: Ruth Salim

MR in Patients With Neuromuscular Diseases

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Detailed Description

See above

Study Type

Interventional

Enrollment (Anticipated)

20

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Denmark
    • Østerbro
      • Copenhagen, Østerbro, Denmark, 2100
        • Recruiting
        • Copenhagen Neuromuscular Center
        • Contact:
          • Pia Hynne
          • Phone Number: +45 35 45 61 35

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • confirmed Bethlem myopathy or Ulrich disease

Exclusion Criteria:

  • All contraindications for undergoing an MRI scan

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Persons with collagen VI defect
Observational
Other: Observeational
No intervention, observational

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Muscle fat fraction
Time Frame: One MRI scan pr subject (exam lasts approximately 60 min)
The Dixon MRI will be used to quantify the fat fraction in skeletal muscle
One MRI scan pr subject (exam lasts approximately 60 min)

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Muscle strength
Time Frame: Exam lasts approximately 40-60 min
MRC in order to test specific muscles in the subjects
Exam lasts approximately 40-60 min

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Ruth Salim

Investigators

  • Study Director: John Vissing, Prof., MD, CNMC, Rigshospitalet

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 1, 2018

Primary Completion (Anticipated)

May 1, 2019

Study Completion (Anticipated)

May 1, 2019

Study Registration Dates

First Submitted

October 1, 2018

First Submitted That Met QC Criteria

October 1, 2018

First Posted (Actual)

October 3, 2018

Study Record Updates

Last Update Posted (Actual)

October 10, 2018

Last Update Submitted That Met QC Criteria

October 8, 2018

Last Verified

October 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • H-18023049

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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