NCT03693898

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
20

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Sep 2018

Shorter than P25 for not_applicable

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 2018

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

October 1, 2018

Completed
2 days until next milestone

First Posted

Study publicly available on registry

October 3, 2018

Completed
7 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2019

Completed
Last Updated

October 10, 2018

Status Verified

October 1, 2018

Enrollment Period

8 months

First QC Date

October 1, 2018

Last Update Submit

October 8, 2018

Conditions

Bethlem MyopathyUllrich Disease

Outcome Measures

Primary Outcomes (1)

  • 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 (1)

  • Muscle strength

    Exam lasts approximately 40-60 min

Study Arms (1)

Persons with collagen VI defect

OTHER

Observational

Other: Observeational

Interventions

ObserveationalOTHER

No intervention, observational

Persons with collagen VI defect

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • confirmed Bethlem myopathy or Ulrich disease

You may not qualify if:

  • All contraindications for undergoing an MRI scan

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Copenhagen Neuromuscular Center

Copenhagen, Østerbro, 2100, Denmark

RECRUITING

MeSH Terms

Conditions

Bethlem myopathyScleroatonic muscular dystrophy

Study Officials

  • John Vissing, Prof., MD

    CNMC, Rigshospitalet

    STUDY DIRECTOR

Central Study Contacts

Ruth Salim, stud.med

CONTACT

+45 24 64 84 87ruth.salim.01@regionh.dk

Julia Dahlqvist, MD

CONTACT

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Medical student

Study Record Dates

First Submitted

October 1, 2018

First Posted

October 3, 2018

Study Start

September 1, 2018

Primary Completion

May 1, 2019

Study Completion

May 1, 2019

Last Updated

October 10, 2018

Record last verified: 2018-10

Locations

DK(1)