AADC deficiency
Conditions
Interventions
Subjects will be hospitalized before Day -14 and conducted the baseline examination. The target putmen for AAV-hAADC-2 infusion is identified on MRI image that has been taken prior to the operation, a
50 micro L per site) at a flow rate of 3 micro L per minute on Day 0.
After the infusion is complete, the cannula devices will be removed, and the surgical incision will be seamed in accordance with
Sponsors
JIchi Medical University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.Typical AADC deficiency patients who was unable to stand with motor disturbance and dystonia. Diagnosis was confirmed from the findings of CSF analysis, enzyme activity or genetic analysis. 2.Age; => 4 years at the time of medical treatment. No restriction of age upper limit. 3.No findings suggestive of CNS Degenerative Disease are found. 4.To be able to comply with the requirements of this study, including the frequent clinical examination after medical treatment. 5.To keep the therapeutic medicine for AADC deficiency for at least 2 months prior to participation in this study. 6.Written informed consent from patient' s parental authorities.
Exclusion criteria
Exclusion criteria: 1.Mild AADC deficiency patients who can stand and walk. 2.Patients with history of significant cardiovascular disease including cerebrovascular accident. 3.Malignant neoplasm in the brain, clinically significant neurological disease. 4.History of malignancy, with the exception of treated carcinoma cutaneum, within 5 years. 5.Uncontrolled hypertension: systolic blood pressure over 160 mmHg. 6.Coagulopathy or need for anticoagulant therapy. 7.Clinically significant immune dysfunction (for example, the case who require the use of immunosuppresive drugs). 8.Unable to scan MRI. 9.Cases without abnormal finding in FMT-PET. 10.Past medical history of serious drug allergy. 11.Patients who have participated in other clinical trial within 6 months. 12.Patients who meet any of the following criteria: a) Serious renal disorder (Cr; => 2.0 mg/dl, and BUN; => 25mg/dl) b) Serious hepatic disorder AST (GOT) / ALT (GPT) ; => 2.5 x upper limit of normal (ULN) c) Serious diabetes (casual blood glucose or fasting blood glucose; => 200 mg/dl and HbA1c; => 9 %) 13.Seriously ill patients 14.Any other patients judged by investigators to be inappropriate for the subject of this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety of the AAV-hAADC-2 injection therapy into the Putamen of the patients with AADC deficiency. ? Adverse event ?Clinical records of seizure, physical findings, and neurological findings. ?Laboratory findings, cerebro- spinal fluid examination, cranial MRI, and EEG. | — |
Countries
Japan
Outcome results
None listed