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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
Ruth Salim
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Bethlem Myopathy

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesAccepts Healthy Volunteers

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

First Posted
October 1, 2018
Last Updated
October 8, 2018
Sponsor
Ruth Salim
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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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