臨床研究等提出・公開システム

Phase I/II Study of Gene Therapy for GLUT1 deficiency

Phase I/II Study of Gene Therapy for GLUT1 deficiency

Osaka Hitoshi

Jichi Medical University Hospital

3311-1 Yakushiji, Shimotsuke-shi, Tochigi

hosaka@jichi.ac.jp

Yako Naoko

SRD Co.,Ltd.

3-4-8 Hatchobori, Chuo-ku, Tokyo

+81-3-5543-0306

glut1_gt0006x-01@cro-srd.co.jp

Recruiting

June. 30, 2025

Interventional

single arm study

open(masking not used)

uncontrolled control

single assignment

treatment purpose

- 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.

- 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.

Both

glucose transporter type 1 (GLUT1) deficiency

AAV.GTX-GLUT1 is injected intrathecally in patients with GLUT1 deficiency.

1.Primary safety endpoint
- Occurrence of adverse events and defects (investigational products)
- Laboratory evidence
- Vital signs
2.Primary efficacy endpoint
- Cerebrospinal fluid sugar (absolute)

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)

+81-285-58-7195

Feb. 21, 2024

No

none