Giant Axonal NeuropathyNCT01503125
Giant Axonal Neuropathy Natural History Study
An observational study of Giant Axonal Neuropathy, run by Columbia University at 1 site in United States.
Trial 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 infancy, leads to significant disability, and typically leads to death within the first 30 years of life. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Giant Axonal Neuropathy
- How many people
- 13 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 2011to Oct 2015
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: People diagnosed with Giant Axonal Neuropathy
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Columbia University Pediatric Neuromuscular Center
New York, New York, 10032
About this study
Official title: 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.
Read the 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.
- Conditions
- Giant Axonal Neuropathy
- Keywords
- GAN, Giant Axonal Neuropathy, Neuromuscular Disease, Natural History Study, Observational Study
- Medical subject headings
- Giant Axonal Neuropathy, Neuromuscular Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Gross Motor Function Measure (GMFM)
Measured: Up to 24 months
Secondary outcomes (4)
Nerve Conduction Study (NCS)/Motor Unit Number Estimation (MUNE)
Measured: Up to 24 months
Somatosensory Evoked Potential (SSEP)
Measured: Up to 24 months
Brainstem Auditory Evoked Response (BAER)
Measured: Up to 24 months
Pulmonary Function Testing (PFT)/Forced Vital Capacity (FVC)
Measured: Up to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jan 2012 (estimated)
- Study startDec 2011
- Primary completionDec 2014
- Study completionOct 2015
Why it stopped: PI left the institution
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Giant Axonal NeuropathyStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- University of North Carolina, Chapel Hill
- Responsible party
- Sponsor
- Investigators
- Darryl DeVivo, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01503125
- Sponsor's protocol ID
- AAAI4500
- Status last verified
- Jan 2017
- First submitted
- 29 Dec 2011
- Last updated
- 27 Jan 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 27 Jan 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Study of Giant Axonal Neuropathy
- ClinicalTrials.gov ID
- NCT01503125
- Acronym / sponsor ID
- AAAI4500
- Conditions
- Giant Axonal Neuropathy
- Keywords
- GAN, Giant Axonal Neuropathy, Neuromuscular Disease, Natural History Study, Observational Study
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: PI left the institution
- Enrolment
- 13 participants (actual)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- University of North Carolina, Chapel Hill
- Study start
- Dec 2011
- Primary completion
- Dec 2014 (actual)
- Study completion
- Oct 2015 (actual)
- First posted
- 2 Jan 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- People diagnosed with Giant Axonal Neuropathy
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Gross Motor Function Measure (GMFM)
Time frame: Up to 24 months
4 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
Results and safety
The study was stopped early (reason given: PI left the institution). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jan 2017.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Related trials for Giant Axonal Neuropathy
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Darryl DeVivo, MD principal investigator
Columbia University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Giant Axonal Neuropathy, run by Columbia University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 27 Jan 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: PI left the institution). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Gross Motor Function Measure (GMFM) (time frame: Up to 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Jan 2017.