MRI in Patients With Kennedy Disease

Completed

• Conditions: Bulbo-Spinal Atrophy, X-Linked; Kennedy Disease
• Interventions: Other: No intervention, observational

• Registration Number: NCT02501395
• Lead Sponsor: Rigshospitalet, Denmark

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2015-07-14
• Study First Submitted QC: 2015-07-15
• Study First Posted: 2015-07-17
• Study Start: 2015-09
• Primary Completion: 2017-02
• Study Completion: 2018-05
• Status Verified: 2018-06
• Last Update Submitted: 2018-06-01
• Last Update Posted: 2018-06-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 53

Inclusion Criteria

• Confirmed Kennedy disease

Exclusion Criteria

• All contraindications for undergoing an MRI scan

Healthy controls

Inclusion Criteria:

• Fit age and gender criteria

Exclusion Criteria:

• All contraindications for undergoing an MRI scan

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients with Kennedy disease	No intervention, observational	Men over 18 years old with confirmed Kennedy disease.
Healthy, voluntary controls	No intervention, observational	Gender and age matched healthy, voluntary controls.

Primary Outcome Measures

Name	Time	Method
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
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.
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