MR in Patients With Collagen VI Related Myopathies

Ruth Salim

Status: Unknown

Conditions: Ullrich Disease; Bethlem Myopathy

Treatments: Other: Observeational

Study type: Interventional

Funder types: Other

Identifiers

NCT03693898

H-18023049

Details and patient eligibility

About

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.

Full description

See above

Enrollment: 20 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• confirmed Bethlem myopathy or Ulrich disease

Exclusion criteria

• All contraindications for undergoing an MRI scan

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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20 participants in 1 patient group

Persons with collagen VI defect

Other group

Description:

Observational

Treatment:

Other: Observeational