Phase I/II Study of Gene Therapy for AADC deficiency

JRCT ID: jRCT2033210641

Registered date:03/03/2022

Basic Information

• Recruitment status: Complete
• Health condition(s) or Problem(s) studied: Aromatic L-amino acid decarboxylase deficiency
• Date of first enrollment: 09/03/2022
• Target sample size: 1
• Study type: Interventional
• Intervention(s): AAV-hAADC-2 is designed to be injected into the striatum (putamen) of the patients with AADC deficiency, according to the stereotactic neurosurgical method.

Outcome(s)

• Primary Outcome: To examine the totlerability and safety in patients with AADC deficiency, after intracerebral administrations of AAV-hAADC-2 into the putamen
• Secondary Outcome: To examine the efficacy in patients with AADC deficiency, after intracerebral administrations of AAV-hAADC-2 into the putamen

Key inclusion & exclusion criteria

• Age minimum: >= 2age old
• Age maximum: Not applicable
• Gender: Both

Include criteria

-Patients with clinical symptoms of motor dysfunctions and/or dystonia, whose severities are estimated as "Definite" or "Probable", according to the "323 Aromatic L-amino acid decarboxylase deficiency" of the Intractable Diseases Information Center.
-Patients whose ages are over two(2) at the time of obtaining informed consent,and who have skulls for whom stereotaxic brain surgeries could be performed. The upper limit of ages was not established.
-Patients without any clinical evidence of other neurodegerative disorders.
-Patients who do not need to add new therapeutic agents or patients who do not need dosage changes for the AADC deficiency treatment for at least 4 weeks, prior to the start of the study substance administration.
-Female patients who are able to become pregnant, and whose partners agree to use medically effective contraceptive methods during the study period.

Exclude criteria

-Patients with apparent vascular diseases, including cerebrovascular disorders.
-Patients with clinically prominent evidence of other neurological disorders.
-Patients with clinically prominent evidence of immunodeficiency who require immunosuppressant treatments excluding steroid therapy.
-Patients who cannot undergo MRI.
-Patients with the following complications that are hard to manage.
1:Patients with severe renal disorders of the magnitude of both the serum creatinine levels of > 2.0 mg/dl and BUN>25 mg/dl.
2: Patients with severe hepatic disorders of the magnitude of either AST/GOT or ALT/GPT is above 2.5 folds of the upper limit of the normal levels.
3: Patients with diabetes of the magnitude of both >200 mg/dl casual or postprandial blood glucose levels and >9% HbA1c.

Related Information

• Primary Sponsor: Yamagata Takanori
• Secondary Sponsor: Gene Therapy Research Institution Co., Ltd.