MR in Patients With Collagen VI Related Myopathies

• Sponsor: Ruth Salim (Other)
• Overall Status: Unknown status
• CT.gov ID: NCT03693898
• Collaborator: (none)
• Enrollment: 20
• Location: 1
• Arm: 1
• Anticipated Duration (Months): 8
• Patients Per Site Per Month: 2.5

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Bethlem Myopathy; Ullrich Disease	Other: Observeational	N/A

Detailed Description

See above

Study Design

• Study Type: Interventional
• Anticipated Enrollment: 20 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Diagnostic
• Official Title: MR in Patients With Neuromuscular Diseases
• Actual Study Start Date: Sep 1, 2018
• Anticipated Primary Completion Date: May 1, 2019
• Anticipated Study Completion Date: May 1, 2019

Arms and Interventions

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

Outcome Measures

Primary Outcome Measures

1. Muscle fat fraction [One MRI scan pr subject (exam lasts approximately 60 min)]

   The Dixon MRI will be used to quantify the fat fraction in skeletal muscle

Secondary Outcome Measures

1. Muscle strength [Exam lasts approximately 40-60 min]

   MRC in order to test specific muscles in the subjects

Eligibility Criteria

Criteria

• Ages Eligible for Study: 18 Years and Older
• 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Copenhagen Neuromuscular Center	Copenhagen	Østerbro	Denmark	2100

Sponsors and Collaborators

• Ruth Salim

Investigators

• Study Director: John Vissing, Prof., MD, CNMC, Rigshospitalet

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Ruth Salim, Medical student, Rigshospitalet, Denmark
• ClinicalTrials.gov Identifier: NCT03693898
• Other Study ID Numbers: H-18023049
• First Posted: Oct 3, 2018
• Last Update Posted: Oct 10, 2018
• Last Verified: Oct 1, 2018

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Muscular Diseases

Study Results

No Results Posted as of Oct 10, 2018