Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD

• Conditions: Facioscapulohumeral Muscular Dystrophy 1a
• Interventions: Other: No intervention, observational

• Registration Number: NCT02541292
• Lead Sponsor: Rigshospitalet, Denmark

Brief Summary

Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy with approximately 500 patients in Denmark. It is characterized by weakness and wasting of the facial muscles, the muscles in the shoulder region and of the legs.

The primary aim of this study is to investigate possible links and order between inflammation and fat infiltration in the muscles in patients with FSHD.

Approximately 15 patients with FSHD will be recruited for repeated MRI-scans during a year where the inflammation and fat infiltration in the muscles can be quantified.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2015-09-02
• Study First Submitted QC: 2015-09-02
• Study First Posted: 2015-09-04
• Study Start: 2016-02
• Status Verified: 2018-08
• Last Update Submitted: 2018-08-31
• Last Update Posted: 2018-09-04
• Primary Completion: 2018-11
• Study Completion: 2018-11

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 10

Inclusion Criteria

• Confirmed FSHD

Exclusion Criteria

• All contraindications for undergoing an MRI scan

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patient group	No intervention, observational	Patients over 18 years old with confirmed FSHD (facioscapulohumeral muscular dystrophy).

Primary Outcome Measures

Name	Time	Method
Muscle inflammation	One MRI scan per subject (exam lasts approximately 60 min.)	MRI (t2 mapping) will be used to quantify the inflammation in skeletal muscle.
Muscle fat fraction	One MRI scan per subject (exam lasts approximately 60 min.)	The Dixon MRI will be used to quantify the fat fraction in skeletal muscle.

Secondary Outcome Measures

Name	Time	Method
Muscle strength	One muscle strength test per subject (exam lasts approximately 60 min.)	Isokinetic muscle dynamometry will be used to measure muscle strength.

Trial Locations

Locations (1)

Copenhagen Neuromuscular Center; 🇩🇰 Copenhagen, Denmark