Clinical research of the gene therapy for AADC deficiency

Not Applicable

• Conditions: AADC deficiency

• Registration Number: JPRN-UMIN000017802
• Lead Sponsor: JIchi Medical University

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2015-06-04
• Last Update Posted: 17 October 2023

Recruitment & Eligibility

• Status: Open public recruiting
• Sex: All
• Target Recruitment: 5

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

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.

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Safety of the AAV-hAADC-2 injection therapy into the Putamen of the patients with AADC deficiency.<br> ? Adverse event<br> ?Clinical records of seizure, physical findings, and neurological findings.<br> ?Laboratory findings, cerebro- spinal fluid examination, cranial MRI, and EEG.