Giant Axonal Neuropathy Natural History Study
Maneno muhimu
Kikemikali
Maelezo
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.
Tarehe
Imethibitishwa Mwisho: | 12/31/2016 |
Iliyowasilishwa Kwanza: | 12/28/2011 |
Uandikishaji uliokadiriwa Uliwasilishwa: | 12/29/2011 |
Iliyotumwa Kwanza: | 01/01/2012 |
Sasisho la Mwisho Liliwasilishwa: | 01/25/2017 |
Sasisho la Mwisho Lilichapishwa: | 01/26/2017 |
Tarehe halisi ya kuanza kwa masomo: | 11/30/2011 |
Tarehe ya Kukamilisha Msingi iliyokadiriwa: | 11/30/2014 |
Tarehe ya Kukamilisha Utafiti: | 09/30/2015 |
Hali au ugonjwa
Awamu
Vigezo vya Kustahiki
Jinsia Inastahiki Kujifunza | All |
Njia ya sampuli | Non-Probability Sample |
Hupokea Wajitolea wa Afya | Ndio |
Vigezo | 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. |
Matokeo
Hatua za Matokeo ya Msingi
1. Gross Motor Function Measure (GMFM) [Up to 24 months]
Hatua za Matokeo ya Sekondari
1. Nerve Conduction Study (NCS)/Motor Unit Number Estimation (MUNE) [Up to 24 months]
2. Somatosensory Evoked Potential (SSEP) [Up to 24 months]
3. Brainstem Auditory Evoked Response (BAER) [Up to 24 months]
4. Pulmonary Function Testing (PFT)/Forced Vital Capacity (FVC) [Up to 24 months]