MR in Patients With Collagen VI Related Myopathies

Sponsor:

Collaborators:

Information provided by (Responsible Party):

Ruth Salim，Rigshospitalet, Denmark

Tracking Information

First Submitted Date ^ICMJE

October 1, 2018

First Posted Date ^ICMJE

October 3, 2018

Last Update Posted Date

October 3, 2018

Actual Study Start Date ^ICMJE

September 1, 2018

Estimated Primary Completion Date

May 1, 2019 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures ^ICMJE

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

Original Primary Outcome Measures ^ICMJE

Same as current

Current Secondary Outcome Measures ^ICMJE

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

Descriptive Information

Brief Title ^ICMJE

MR in Patients With Collagen VI Related Myopathies

Official Title ^ICMJE

MR in Patients With Neuromuscular Diseases

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

Study Type ^ICMJE

Interventional

Study Phase

N/A

Study Design ^ICMJE

Allocation:
Intervention Model: Single Group Assignment
Intervention Model Description:
Masking: Interventional
Masking Description:
Primary Purpose: Diagnostic

Condition ^ICMJE

Intervention ^ICMJE

Other: Observeational
No intervention, observational

Study Arms

Other: Persons with collagen VI defect
Observational

Recruitment Information

Recruitment Status ^ICMJE

Recruiting

Estimated Enrollment ^ICMJE

Original Estimated Enrollment ^ICMJE

Same as current

Estimated Study Completion Date

May 1, 2019

Estimated Primary Completion Date

May 1, 2019 (Final data collection date for primary outcome measure)

Eligibility Criteria ^ICMJE

Inclusion Criteria: - confirmed Bethlem myopathy or Ulrich disease Exclusion Criteria: - All contraindications for undergoing an MRI scan

Sex/Gender

Sexes Eligible for Study:

All

Ages

18 Years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Listed Location Countries ^ICMJE

Denmark

Removed Location Countries

Administrative Information

Has Data Monitoring Committee

Yes

U.S. FDA-regulated Product

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

IPD Sharing Statement

Plan to Share IPD:

Responsible Party

Ruth Salim，Rigshospitalet, Denmark

Study Sponsor ^ICMJE

Ruth Salim

Collaborators ^ICMJE

Investigators ^ICMJE

Study Director: John Vissing, Prof., MD CNMC, Rigshospitalet

PRS Account

Rigshospitalet, Denmark

Verification Date

October 2018

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP

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