MR in Patients With Collagen VI Related Myopathies

Bethlem Myopathy Clinical Trial

Official title:

MR in Patients With Neuromuscular Diseases

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03693898
• Other study ID #: H-18023049
• Status: Recruiting
• Phase: N/A
• Start date: September 1, 2018
• Est. completion date: May 1, 2019

Study information

• Verified date: October 2018
• Source: Rigshospitalet, Denmark
• Contact: Ruth Salim, stud.med
• Phone: +45 24 64 84 87
• Email: ruth.salim.01[@]regionh.dk
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Description:

See above

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: May 1, 2019
• Est. primary completion date: May 1, 2019
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• confirmed Bethlem myopathy or Ulrich disease

Exclusion Criteria:

• All contraindications for undergoing an MRI scan

Related Conditions & MeSH terms

• Bethlem Myopathy
• Muscular Diseases
• Ullrich Disease

Intervention

Other:
• Observeational
No intervention, observational

Locations

Country	Name	City	State
Denmark	Copenhagen Neuromuscular Center	Copenhagen	Østerbro

Sponsors (1)

Lead Sponsor	Collaborator
Ruth Salim

Country where clinical trial is conducted

Denmark, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Muscle strength	MRC in order to test specific muscles in the subjects	Exam lasts approximately 40-60 min