MRI in Patients With Kennedy Disease


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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Cross-Sectional
  • Study Primary Completion Date: February 2017


  • Other: No intervention, observational

Arms, Groups and Cohorts

  • Patients with Kennedy disease
    • Men over 18 years old with confirmed Kennedy disease.
  • Healthy, voluntary controls
    • Gender and age matched healthy, voluntary controls.

Clinical Trial Outcome Measures

Primary Measures

  • Muscle fat fraction
    • Time Frame: 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 Measures

  • Muscle strength
    • Time Frame: 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
    • Time Frame: 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.

Participating in This Clinical Trial

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 Exclusion Criteria:

  • All contraindications for undergoing an MRI scan

Gender Eligibility: Male

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Rigshospitalet, Denmark
  • Provider of Information About this Clinical Study
    • Principal Investigator: Julia Dahlqvist, MD, MD – Rigshospitalet, Denmark
  • Overall Official(s)
    • Julia R Dahlqvist, MD, Principal Investigator, Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University

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