MR in Patients With Collagen VI Related Myopathies
- Conditions
- Bethlem MyopathyUllrich Disease
- Interventions
- Other: Observeational
- Registration Number
- NCT03693898
- Lead Sponsor
- Ruth Salim
- 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.
- Detailed Description
See above
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 20
- confirmed Bethlem myopathy or Ulrich disease
- All contraindications for undergoing an MRI scan
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Persons with collagen VI defect Observeational Observational
- Primary Outcome Measures
Name Time Method Muscle fat fraction 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
Name Time Method Muscle strength Exam lasts approximately 40-60 min MRC in order to test specific muscles in the subjects
Trial Locations
- Locations (1)
Copenhagen Neuromuscular Center
🇩🇰Copenhagen, Østerbro, Denmark