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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

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

NCT ID

NCT03693898

First Posted

October 1, 2018

Last Updated

October 8, 2018

Sponsor

Ruth Salim

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

Studies a U.S. FDA-regulated Device Product

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

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

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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