This trial is active, not recruiting.

Condition giant axonal neuropathy
Sponsor Columbia University
Collaborator University of North Carolina, Chapel Hill
Start date December 2011
End date December 2014
Trial size 13 participants
Trial identifier NCT01503125, AAAI4500


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 infancy, leads to significant disability, and typically leads to death within the first 30 years of life. GAN is caused by a defect in the "gigaxonin" (GAN) gene, resulting in pathologically enlarged and dysfunctional nerves. Currently, there is no effective therapy. To find out what medications can help patients with GAN, the investigators have to conduct clinical trials. In this study, the investigators propose to prepare for future clinical trials and will invite GAN patients to join our research effort.

The investigators will examine them regularly to better understand their disease. The visits will include questions, a physical exam, blood drawing, a lumbar puncture, and a skin biopsy. The visits will also include tests that assess the electrical conductivity of the patients' nerves as well as a test to measure the patients' brain wave activity. In addition, the investigators will be performing tests to evaluate the patients' motor function, their vision, and thinking ability. Identifying an effective GAN treatment is very important because there is currently none. Clinical trials are the only way to decide whether a new treatment works in GAN patients or not.

With the future objective of conducting clinical trials in GAN, the proposed project has three specific aims. The first is to plan for clinical trials by developing reliable outcome measures, and establishing the infrastructure needed to carry out efficient clinical trials. The second is to further characterize the patient population from a clinical and molecular point of view, and the third aim is to utilize the information gathered in this study to further pre-clinical GAN drug development to select candidate drugs.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model cohort
Time perspective prospective

Primary Outcomes

Gross Motor Function Measure (GMFM)
time frame: Up to 24 months

Secondary Outcomes

Nerve Conduction Study (NCS)/Motor Unit Number Estimation (MUNE)
time frame: Up to 24 months
Somatosensory Evoked Potential (SSEP)
time frame: Up to 24 months
Brainstem Auditory Evoked Response (BAER)
time frame: Up to 24 months
Pulmonary Function Testing (PFT)/Forced Vital Capacity (FVC)
time frame: Up to 24 months

Eligibility Criteria

Male or female participants of any age.

Inclusion Criteria: 1. Clinical diagnosis of Giant Axonal Neuropathy. 2. 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. 3. Parents or if applicable subjects must give informed consent must be capable of complying with the study procedures. 4. Willing and able to comply with all protocol requirements and procedures. Exclusion Criteria: 1. Unwilling or unable to travel to Columbia University Medical Center. 2. Unstable medical condition precluding participation. 3. Significant respiratory compromise that would interfere with safe travel to site of evaluation. 4. 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.

Additional Information

Official title Clinical Study of Giant Axonal Neuropathy
Principal investigator Darryl DeVivo, MD
Trial information was received from ClinicalTrials.gov and was last updated in July 2015.
Information provided to ClinicalTrials.gov by Columbia University.