MRI in Patients With Kennedy Disease

NCT02501395 | Completed

• 1 other identifier: H-15006316
• Study Type: observational
• Target: 53
• Locations: 1 country
• Sites: 1

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.

Conditions

Bulbo-Spinal Atrophy, X-Linked; Kennedy Disease

Outcome Measures

Primary Outcomes (1)

• Muscle fat fraction

  The Dixon MRI will be used to quantify the fat fraction in skeletal muscle.

  One MRI scan per subject (exam lasts approximately 60 min.)

Secondary Outcomes (2)

• Muscle strength

  One muscle strength test per subject (exam lasts approximately 60 min.)

• Minimal dataset for data collection in Kennedy disease

  Data will be collected once for patients with Kennedy disease (exam lasts approximately 90 min.)

Study Arms (2)

Patients with Kennedy disease

Men over 18 years old with confirmed Kennedy disease.

Other: No intervention, observational

Healthy, voluntary controls

Gender and age matched healthy, voluntary controls.

Other: No intervention, observational

Interventions

No intervention, observational OTHER

Healthy, voluntary controls; Patients with Kennedy disease

Eligibility Criteria

• Age: 18 Years+
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Persons in Denmark diagnosed with Kennedy disease is invited to the study. Gender and age matched controls will be recruited to a control group.

You may qualify if:

• Confirmed Kennedy disease

You may not qualify if:

• All contraindications for undergoing an MRI scan
• Healthy controls
• Fit age and gender criteria
• All contraindications for undergoing an MRI scan

Sponsors & Collaborators

• Rigshospitalet, Denmark: lead

Study Sites (1)

Copenhagen Neuromuscular Center

Copenhagen, 2100, Denmark

Location

Related Links

• The homepage of Copenhagen Neuromuscular Center, Denmark.

MeSH Terms

Conditions

Bulbo-Spinal Atrophy, X-Linked

Condition Hierarchy (Ancestors)

Muscular Atrophy, Spinal; Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Neuromuscular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Julia R Dahlqvist, MD

  Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: July 14, 2015
• First Posted: July 17, 2015
• Study Start: September 1, 2015
• Primary Completion: February 1, 2017
• Study Completion: May 1, 2018
• Last Updated: June 4, 2018

Record last verified: 2018-06

Locations

DK (1)