Status:
TERMINATED
Giant Axonal Neuropathy Natural History Study
Lead Sponsor:
Columbia University
Collaborating Sponsors:
University of North Carolina, Chapel Hill
Conditions:
Giant Axonal Neuropathy
Eligibility:
All Genders
Brief Summary
Giant Axonal Neuropathy (GAN) is a devastating and rare childhood disease. Children with GAN develop increasing muscle weakness, impaired sensation, and at times mental retardation. GAN starts in infa...
Detailed Description
Giant Axonal Neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder that appears during childhood and affects both the central and peripheral nervous systems. This disorder is gener...
Eligibility Criteria
Inclusion
- Clinical diagnosis of Giant Axonal Neuropathy.
- Documentation of the presence of a mutation in the GAN gene as determined by gene sequencing from a CAP/CLIA certified laboratory or an equivalent organization.
- Parents or if applicable subjects must give informed consent must be capable of complying with the study procedures.
- Willing and able to comply with all protocol requirements and procedures.
Exclusion
- Unwilling or unable to travel to Columbia University Medical Center.
- Unstable medical condition precluding participation.
- Significant respiratory compromise that would interfere with safe travel to site of evaluation.
- Having a contraindication to the MRI safety requirements, including pacemaker or other implanted electrical device, brain stimulator, some types of dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), implanted delivery pump, shrapnel fragments, or history of claustrophobia.
Key Trial Info
Start Date :
December 1 2011
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
October 1 2015
Estimated Enrollment :
13 Patients enrolled
Trial Details
Trial ID
NCT01503125
Start Date
December 1 2011
End Date
October 1 2015
Last Update
January 27 2017
Active Locations (1)
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1
Columbia University Pediatric Neuromuscular Center
New York, New York, United States, 10032