MRI in Patients With Collagen VI Related Myopathies

Title: 
MRI in Patients With Collagen VI Related Myopathies
Recruitment Status: 
Unknown
Status Last Updated: 
June 15, 2021
Clinical Phenotype(s): 
Collagen VI Related Disorders
Gene(s): 
COL6A1
COL6A2
COL6A3
Study Purpose: 

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.

Intervention/Treatment: 
Observational
Phase: 
Not Applicable
Study Description: 

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 Bethlem 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.

Study Type: 
Interventional
Official Title: 
MR in Patients With Neuromuscular Diseases
Study Start Date: 
September 1, 2018
Study Completion Date: 
May 1, 2019
Primary Objective(s): 
  1. Muscle fat fraction [ Time Frame: One MRI scan pr subject (exam lasts approximately 60 min) ]
  2. The Dixon MRI will be used to quantify the fat fraction in skeletal muscle
Secondary Objective(s): 
  1. Muscle strength [ Time Frame: Exam lasts approximately 40-60 min ]
  2. MRC in order to test specific muscles in the subjects
Eligibility: 

Ages Eligible for Study: 18 Years and older (Adult, Older Adult)

Sexes Eligible for Study: All

Accepts Healthy Volunteers: Yes

Inclusion Criteria: 

Confirmed Bethlem myopathy or Ulrich disease

Exclusion Criteria: 

All contraindications for undergoing an MRI scan

Study Site(s)/Location(s): 

Denmark

Copenhagen Neuromuscular Center

Copenhagen, Østerbro, Denmark, 2100

Sponsors & Collaborators: 

Ruth Salim

Principal Investigator(s): 

John Vissing, Prof., MD

CNMC, Rigshospitalet

For more information, please contact the Study Coordinator: 

Contact:  Ruth Salim, stud.med

Email: ruth.salim.01@regionh.dk

Phone: +45 24 64 84 87

ClinicalTrials.gov ID: 
NCT03693898