1 Year MRI Followup in Facioscapulohumeral Muscular Dystrophy

Study Overview
=================
Brief Summary
-----------------
An investigation of disease progression in adult danish patients with facioscapulohumeral muscular dystrophy. The disease progression is followed for a year with two test-days, including functional muscle tests and a MRI scan of muscles in the back and legs.

Detailed Description
-----------------
A cohort of adult danish patients with facioscapulohumeral muscular dystrophy is invited to perform a MRI scan to describe the relation between backpain and disease affection in back muscles. After one year they are re-invited to perform another MRI scan to follow the disease progression. The MRI scan is done to measure the quantity and quality of the muscles in the back, thigh and calf. Further, investigators investigate the muscle function by measuring of muscle strength in legs and in the back together with three functional tests. A walking test (6MWT), a stair test (14SST), and a chair test (5-TSTST). Self-assessment of back pain is measured by a standardized questionnaire about backpain.

Official Title
-----------------
Disease Progression in Facioscapulohumeral Muscular Dystrophy - 1 Year MRI Follow-up

Conditions
-----------------
FSHD - Facioscapulohumeral Muscular Dystrophy

Intervention / Treatment
-----------------
* Other: MRI


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Diagnosed with FSHD type 1 Exclusion Criteria: Pregnant or breastfeeding women. Patients with claustrophobia. Patients with implanted metallic parts in the body.

Ages Eligible for Study
-----------------
Minimum Age: 18 Years
Maximum Age: 80 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| FSHD<br>A cohort of adult danish patients with facioscapulohumeral muscular dystrophy is invited to perform a MRI scan. | Other: MRI<br>* MRI scan of muscles in the back and legs. Including T1, DIXON and STIR images.<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Fat infiltration | Change in the distribution of fat infiltration in back, thigh and calves muscles seen at the MRI images. | 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Muscle structure | Muscle structure is evaluated with a four-point semi-quantitative visual scale. Two observers evaluate images independently. Changes in evaluation between 1st and 2nd scan are the outcome measure. | 1 year | 
| Muscle strength | Changes in muscle strength between 1st. and 2nd MRI-scan. | 1 year | 
| Back pain | Changes in self-assessed back-pain between 1st. and 2nd scan. | 1 year | 
| Muscle function | Changes in muscle function between 1st and 2nd MRI-scan, measured by a 6 minute walk test, a 14-step-stair test and a 5-times-sit-to-stand-test. | 1 year | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
FSHD, MRI, Disease progression