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
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|
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||20 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|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|
Persons with collagen VI defect
No intervention, observational
- 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
- Muscle strength [ Time Frame: Exam lasts approximately 40-60 min ]MRC in order to test specific muscles in the subjects
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
|Contact: Ruth Salim, stud.med||+45 24 64 84 email@example.com|
|Contact: Julia Dahlqvist, MD|
|Copenhagen Neuromuscular Center||Recruiting|
|Copenhagen, Østerbro, Denmark, 2100|
|Contact: Pia Hynne +45 35 45 61 35|
|Study Director:||John Vissing, Prof., MD||CNMC, Rigshospitalet|