Giant Axonal Neuropathy Natural History Study
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/21/2016 |
| Start Date: | December 2011 |
| End Date: | December 2015 |
Clinical Study of Giant Axonal Neuropathy
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.
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.
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.
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