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Giant Axonal Neuropathy Natural History Study

This study has been terminated.
(PI left the institution)
University of North Carolina, Chapel Hill
Information provided by (Responsible Party):
Columbia University Identifier:
First received: December 29, 2011
Last updated: January 26, 2017
Last verified: January 2017

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.

Giant Axonal Neuropathy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical Study of Giant Axonal Neuropathy

Resource links provided by NLM:

Further study details as provided by Columbia University:

Primary Outcome Measures:
  • Gross Motor Function Measure (GMFM) [ Time Frame: Up to 24 months ]

Secondary Outcome Measures:
  • 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 ]

Biospecimen Retention:   Samples With DNA
Skin Tissue, Blood, Cerebrospinal fluid (CSF)

Enrollment: 13
Study Start Date: December 2011
Study Completion Date: October 2015
Primary Completion Date: December 2014 (Final data collection date for primary outcome measure)
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 generally characterized by motor and sensory involvement including progressive and predominant distal clumsiness, muscle weakness, and pronounced gait disturbances. GAN is caused by various mutations in the GAN gene that encodes the protein gigaxonin. This leads to giant axonal swelling and degeneration due to substantial accumulation of neurofilaments in the axon. Currently, there is no effective therapy, with onset occurring before the age of seven, and death usually occurring between the first and third decade of life.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
People diagnosed with Giant Axonal Neuropathy

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01503125

United States, New York
Columbia University Pediatric Neuromuscular Center
New York, New York, United States, 10032
Sponsors and Collaborators
Columbia University
University of North Carolina, Chapel Hill
Principal Investigator: Darryl DeVivo, MD Columbia University
  More Information

Additional Information:
Responsible Party: Columbia University Identifier: NCT01503125     History of Changes
Other Study ID Numbers: AAAI4500
Study First Received: December 29, 2011
Last Updated: January 26, 2017
Individual Participant Data  
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Columbia University:
Giant Axonal Neuropathy
Neuromuscular Disease
Natural History Study
Observational Study

Additional relevant MeSH terms:
Giant Axonal Neuropathy
Hereditary Sensory and Motor Neuropathy
Peripheral Nervous System Diseases
Neuromuscular Diseases
Nervous System Diseases
Nervous System Malformations
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Congenital Abnormalities
Genetic Diseases, Inborn processed this record on April 21, 2017