MR in Patients With Collagen VI Related Myopathies
Primary Purpose
Bethlem Myopathy, Ullrich Disease
Status
Unknown status
Phase
Not Applicable
Locations
Denmark
Study Type
Interventional
Intervention
Observeational
Sponsored by
About this trial
This is an interventional diagnostic trial for Bethlem Myopathy
Eligibility Criteria
Inclusion Criteria:
- confirmed Bethlem myopathy or Ulrich disease
Exclusion Criteria:
- All contraindications for undergoing an MRI scan
Sites / Locations
- Copenhagen Neuromuscular CenterRecruiting
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
Persons with collagen VI defect
Arm Description
Observational
Outcomes
Primary Outcome Measures
Muscle fat fraction
The Dixon MRI will be used to quantify the fat fraction in skeletal muscle
Secondary Outcome Measures
Muscle strength
MRC in order to test specific muscles in the subjects
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT03693898
Brief Title
MR in Patients With Collagen VI Related Myopathies
Official Title
MR in Patients With Neuromuscular Diseases
Study Type
Interventional
2. Study Status
Record Verification Date
October 2018
Overall Recruitment Status
Unknown status
Study Start Date
September 1, 2018 (Actual)
Primary Completion Date
May 1, 2019 (Anticipated)
Study Completion Date
May 1, 2019 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor-Investigator
Name of the Sponsor
Ruth Salim
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes
5. Study Description
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
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Bethlem Myopathy, Ullrich Disease
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
20 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Persons with collagen VI defect
Arm Type
Other
Arm Description
Observational
Intervention Type
Other
Intervention Name(s)
Observeational
Intervention Description
No intervention, observational
Primary Outcome Measure Information:
Title
Muscle fat fraction
Description
The Dixon MRI will be used to quantify the fat fraction in skeletal muscle
Time Frame
One MRI scan pr subject (exam lasts approximately 60 min)
Secondary Outcome Measure Information:
Title
Muscle strength
Description
MRC in order to test specific muscles in the subjects
Time Frame
Exam lasts approximately 40-60 min
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
confirmed Bethlem myopathy or Ulrich disease
Exclusion Criteria:
All contraindications for undergoing an MRI scan
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Ruth Salim, stud.med
Phone
+45 24 64 84 87
Email
ruth.salim.01@regionh.dk
First Name & Middle Initial & Last Name or Official Title & Degree
Julia Dahlqvist, MD
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
John Vissing, Prof., MD
Organizational Affiliation
CNMC, Rigshospitalet
Official's Role
Study Director
Facility Information:
Facility Name
Copenhagen Neuromuscular Center
City
Copenhagen
State/Province
Østerbro
ZIP/Postal Code
2100
Country
Denmark
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Pia Hynne
Phone
+45 35 45 61 35
12. IPD Sharing Statement
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MR in Patients With Collagen VI Related Myopathies
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