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Recruitment status Open public recruiting
Unique ID issued by UMIN UMIN000017802
Receipt No. R000020624
Scientific Title Clinical research of the gene therapy for AADC deficiency
Date of disclosure of the study information 2015/06/04
Last modified on 2019/01/06

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Basic information
Public title Clinical research of the gene therapy for AADC deficiency
Acronym Gene therapy for AADC deficiency
Scientific Title Clinical research of the gene therapy for AADC deficiency
Scientific Title:Acronym Gene therapy for AADC deficiency

Condition AADC deficiency
Classification by specialty
Classification by malignancy Others
Genomic information YES

Narrative objectives1 To investigate the safety and improve the motor function of the patients with aromatic L-amino acid decarboxylase (AADC) deficiency, after injection of AADC gene inserted into the adeno- associated virus (AAV) vector type 2 (AAV-hAADC-2) into the patients' striatum (Putamen).
Basic objectives2 Safety
Basic objectives -Others
Trial characteristics_1
Trial characteristics_2
Developmental phase

Primary outcomes 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.
Key secondary outcomes

Study type Interventional

Study design
Basic design Single arm
Randomization Non-randomized
Randomization unit
Blinding Open -no one is blinded
Control Uncontrolled
Dynamic allocation
Institution consideration

No. of arms 1
Purpose of intervention Treatment
Type of intervention
Interventions/Control_1 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, and then subjects will be bilaterally infused with a total volume of 200 micro L at a total of 4 sites (2 sites in left putamen, 2 sites in right putamen; 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 usual trephination. After that, cranial CT scan will be performed so as to confirm whether there are complications such as the occurrence of intracranial bleeding or not. Subjects stay in a hospital for 14 days after infusion of AAV-hAADC-2.
Data and Safety Monitoring Board (DSMB) will be evaluated the efficacy of all subjects and safety of the treatment.
At the time of 6 months after the infusion, investigator assesses the treatment effect of AAV-hAADC-2 on the basis of clinical assessment and FMT-PET imaging.
The investigator also assesses the safety for 5 years after the baseline examination. Long-term follow up study is additionally conducted for 10 years in reference to guideline of FDA.

Age-lower limit
4 years-old <=
Age-upper limit

Not applicable
Gender Male and Female
Key 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.
Key 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.
Target sample size 5

Research contact person
Name of lead principal investigator
1st name
Middle name
Last name Takanori Yamagata
Organization Jichi Medical University
Division name Department of Pediatrics
Zip code
Address 3311-1 Yakushiji, Shimotsuke, Tochigi
TEL 0285-58-7366

Public contact
Name of contact person
1st name
Middle name
Last name Takanori Yamagata
Organization Jichi Medical University
Division name Department of Pediatrics
Zip code
Address 3311-1 Yakushiji, Shimotsuke, Tochigi
TEL 0285-58-7366
Homepage URL

Institute JIchi Medical University

Funding Source
Organization Japan Agency for Medical Research and Development
Category of Funding Organization Japanese Governmental office
Nationality of Funding Organization

Other related organizations
Name of secondary funder(s)

IRB Contact (For public release)

Secondary IDs
Secondary IDs NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2


Other administrative information
Date of disclosure of the study information
2015 Year 06 Month 04 Day

Related information
URL releasing protocol
Publication of results Unpublished

URL related to results and publications
Number of participants that the trial has enrolled
Results date posted
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
Outcome measures
Plan to share IPD
IPD sharing Plan description

Recruitment status Open public recruiting
Date of protocol fixation
2015 Year 01 Month 13 Day
Date of IRB
Anticipated trial start date
2015 Year 06 Month 04 Day
Last follow-up date
Date of closure to data entry
Date trial data considered complete
Date analysis concluded

Other related information

Management information
Registered date
2015 Year 06 Month 04 Day
Last modified on
2019 Year 01 Month 06 Day

Link to view the page

Research Plan
Registered date File name

Research case data specifications
Registered date File name

Research case data
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