MR in Patients With Collagen VI Related Myopathies | NCT03693898

Studies
MR in Patients With Collagen VI Related Myopathies

NCT03693898

Sponsor

Ruth Salim

Status

Unknown status

Last Update Posted

Oct 10, 2018Actual

Enrollment

20Estimated

Phase

Not Applicable

Conditions

Bethlem Myopathy
Ullrich Disease

Interventions

Observeational

Countries

Denmark

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Oct 2018

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 1, 2018Actual

Primary Completion Date

May 1, 2019Estimated

Completion Date

May 1, 2019Estimated

First Submitted Date

Oct 1, 2018

First Submission Date that Met QC Criteria

Oct 1, 2018

First Posted Date

Oct 3, 2018Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Oct 8, 2018

Last Update Posted Date

Oct 10, 2018Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

20Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Persons with collagen VI defect	Other	Observational	Other: Observeational

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Observeational	Other	No intervention, observational	Persons with collagen VI defect

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Muscle fat fraction	The Dixon MRI will be used to quantify the fat fraction in skeletal muscle	One MRI scan pr subject (exam lasts approximately 60 min)

Secondary Outcomes

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

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

confirmed Bethlem myopathy or Ulrich disease

Exclusion Criteria:

All contraindications for undergoing an MRI scan

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Ruth Salim, stud.med	Contact	+45 24 64 84 87		ruth.salim.01@regionh.dk
Julia Dahlqvist, MD	Contact

Overall Officials

Name	Affiliation	Role
John Vissing, Prof., MD	CNMC, Rigshospitalet	Study Director

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Copenhagen Neuromuscular Center	Recruiting	Copenhagen	Østerbro	2100	Denmark

Condition Browse Module

MeSH Terms

ID	Term
C535436	Bethlem myopathy
C537521	Scleroatonic muscular dystrophy

Ancestor Terms

Not provided

Browse Leaves

Not provided

Browse Branches

Not provided