MR in Patients With Collagen VI Related Myopathies

MR in Patients With Neuromuscular Diseases

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.

Study Overview

• Status: Unknown
• Conditions: Bethlem Myopathy; Ullrich Disease
• Intervention / Treatment: Other: Observeational

Detailed Description

See above

• Study Type: Interventional
• Enrollment (Anticipated): 20
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Ruth Salim, stud.med; Phone Number: +45 24 64 84 87; Email: ruth.salim.01@regionh.dk
• Study Contact Backup: Name: Julia Dahlqvist, MD

Study Locations

• Denmark
  • Østerbro
    • Copenhagen, Østerbro, Denmark, 2100
      • Recruiting
      • Copenhagen Neuromuscular Center
      • Contact: Pia Hynne; Phone Number: +45 35 45 61 35

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• confirmed Bethlem myopathy or Ulrich disease

Exclusion Criteria:

• All contraindications for undergoing an MRI scan

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Persons with collagen VI defect; Observational	Other: Observeational; No intervention, observational

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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 Outcome Measures

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

Collaborators and Investigators

• Sponsor: Ruth Salim
• Investigators: Study Director: John Vissing, Prof., MD, CNMC, Rigshospitalet

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2018
• Primary Completion (Anticipated): May 1, 2019
• Study Completion (Anticipated): May 1, 2019

Study Registration Dates

• First Submitted: October 1, 2018
• First Submitted That Met QC Criteria: October 1, 2018
• First Posted (Actual): October 3, 2018

Study Record Updates

• Last Update Posted (Actual): October 10, 2018
• Last Update Submitted That Met QC Criteria: October 8, 2018
• Last Verified: October 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Muscular Diseases
• Other Study ID Numbers: H-18023049

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No