Bulbo-Spinal Atrophy, X-Linked, Kennedy Disease
Conditions
Brief summary
Kennedy disease is an inherited neuromuscular disorder that is characterized by progressive muscle wasting and weakness. It typically starts with muscle spasms and tremors in the arms, followed by muscle weakness and atrophy of muscles in the arms and legs. The facial and bulbar muscles are also involved. However, the muscle involvement pattern has not been investigated systemically in Kennedy disease. The primary aim of the study is to investigate the muscle involvement in patients with Kennedy disease using MRI. Secondary aims are to examine disease severity and to test MRI as a potential outcome measure for future clinical trials in Kennedy disease. Approximately 40 patients with Kennedy disease and 20 gender and age matched healthy voluntary controls will be recruited. The study consists of one visit per subject lasting 4-5 hours.
Interventions
Sponsors
Rigshospitalet, Denmark
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
MALE
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
Patients with Kennedy disease: Inclusion Criteria: * Confirmed Kennedy disease
Exclusion criteria
* All contraindications for undergoing an MRI scan Healthy controls Inclusion Criteria: * Fit age and gender criteria
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| Muscle strength | One muscle strength test per subject (exam lasts approximately 60 min.) | Isokinetic muscle dynamometry will be used to measure muscle strength. |
| Minimal dataset for data collection in Kennedy disease | Data will be collected once for patients with Kennedy disease (exam lasts approximately 90 min.) | The 'minimal dataset for data collection in Kennedy disease' will be used to investigate the clinical spectrum of Kennedy disease. |
Countries
Denmark
Outcome results
None listed