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Trial record 2 of 3 for:    "Scleroatonic muscular dystrophy"

MR in Patients With Collagen VI Related Myopathies

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ClinicalTrials.gov Identifier: NCT03693898
Recruitment Status : Recruiting
First Posted : October 3, 2018
Last Update Posted : October 10, 2018
Sponsor:
Information provided by (Responsible Party):
Ruth Salim, Rigshospitalet, Denmark

Brief 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.


Condition or disease Intervention/treatment Phase
Bethlem Myopathy Ullrich Disease Other: Observeational Not Applicable

Detailed Description:
See above

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: MR in Patients With Neuromuscular Diseases
Actual Study Start Date : September 1, 2018
Estimated Primary Completion Date : May 1, 2019
Estimated Study Completion Date : May 1, 2019


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




Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. Muscle strength [ Time Frame: Exam lasts approximately 40-60 min ]
    MRC in order to test specific muscles in the subjects



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • confirmed Bethlem myopathy or Ulrich disease

Exclusion Criteria:

  • All contraindications for undergoing an MRI scan

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03693898


Contacts
Contact: Ruth Salim, stud.med +45 24 64 84 87 ruth.salim.01@regionh.dk
Contact: Julia Dahlqvist, MD

Locations
Denmark
Copenhagen Neuromuscular Center Recruiting
Copenhagen, Østerbro, Denmark, 2100
Contact: Pia Hynne    +45 35 45 61 35      
Sponsors and Collaborators
Ruth Salim
Investigators
Study Director: John Vissing, Prof., MD CNMC, Rigshospitalet

Responsible Party: Ruth Salim, Medical student, Rigshospitalet, Denmark
ClinicalTrials.gov Identifier: NCT03693898     History of Changes
Other Study ID Numbers: H-18023049
First Posted: October 3, 2018    Key Record Dates
Last Update Posted: October 10, 2018
Last Verified: October 2018

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases