glucose transporter type 1 (GLUT1) deficiency
Conditions
Interventions
AAV.GTX-GLUT1 is injected intrathecally in patients with GLUT1 deficiency.
Sponsors
Osaka Hitoshi
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: - Patients aged 2 years or older and less than 50 years at the time of obtaining informed consent. - Patients suspected of having this disease based on clinical symptoms, etc., whose diagnosis of GLUT1 deficiency has been confirmed by genetic diagnosis (SLC2A1 genetic test) and whose cerebrospinal fluid examination shows the following findings. - "CSF examination: CSF glucose 50 mg/dL or less" or "Cerebrospinal fluid/blood glucose ratio: 0.50 or less" - Patients who have not started new treatment with ketone diet for GLUT1 deficiency within 8 weeks before the start of the preliminary observation period and whose order has not changed. - Patients who have not newly started treatment for GLUT1 deficiency (other than ketone diet) from 4 weeks before the start of the preliminary observation period, and whose treatment details (dosage and administration) have not changed.
Exclusion criteria
Exclusion criteria: - Patients with hepatic dysfunction falling under any of the following within 7 days before the definitive enrollment. - AST or ALT: not less than 3 times above the upper limit of normal - Total bilirubin in blood: 1.5 times or more from the upper limit of normal - Patients with uncontrolled diabetes mellitus. - Patients with the following backgrounds that make lumbar puncture difficult. - Increased ICP - Degenerative diseases of the lumbar spine ect. - Bleeding tendency - Patients with HIV infection, hepatitis B, or hepatitis C. - Patients who have difficulty in electroencephalography and imaging. - Patients with or suspected of having meningitis, ventriculitis, lumbar skin infection, bacteremia, or sepsis.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1.Primary safety endpoint - Occurrence of adverse events and defects (investigational products) - Laboratory evidence - Vital signs 2.Primary efficacy endpoint - Cerebrospinal fluid sugar (absolute) | — |
Secondary
| Measure | Time frame |
|---|---|
| 1.Secondary safety endpoint - Occurrence of adverse events and defects (investigational devices) 2.Secondary efficacy endpoints - CSF/blood glucose ratio - Frequency of epileptic symptoms - Frequency of nonepileptic motor symptoms - Frequency of epileptic discharges during the interictal phase of seizures - Kyoto scale of psychological development score - GMFM-66 score - Vineland-II score - ADL assessment score (Barthel Index (for those aged 7 years or older at the time consent), PEDI (for those under 7 years of age at the time consent)) - Glucose metabolism (using FDG-PET/CT) in various brain regions (frontal, parietal, occipital, temporal, cerebellar, brain stem, caudate nucleus, putamen, globus pallidus, thalamus, and hippocampus) | — |
Contacts
Public ContactNaoko Yako
SRD Co.,Ltd.
Outcome results
None listed