A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion

• Status: Active, not recruiting
• Trial end date: 2022-01-01
• Target enrollment: 0
• Participant gender: All

Summary

This clinical trial expansion is to offer patients, who are not enrolled into the Phase I/II trial, a chance of treatment, to provide the experience in this gene therapy, and to increase the dose slightly.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: National Taiwan University Hospital
• Treatments: Dopa Decarboxylase

Criteria

Inclusion Criteria:

1. With a confirmed diagnosis of AADC, including cerebrospinal fluid analysis to show reduced levels of neurotransmitter metabolites, HVA and 5-HIAA, and higher L-Dopa, or with more than one mutation within AADC gene, etc.

2. Classical clinical characteristics of AADC deficiency, such as oculogyric crises, hypotonia and developmental retardation.

3. The child patient has to be over 2 years old or a thickness of skull enough for surgery.

4. The child patient has to be under 6 years old (72 months) before being treated with study drugs.

5. Participating patients must cooperate completely for all evaluations and examinations before, during and after the whole trial.

6. Parents or guardians must sign to agree on this informed consent.

Exclusion criteria:

1. Significant brain structure abnormality determined by the physician.

2. Patients with any health or neurological doubts that may increase the risk of surgery cannot join this trial. PI has the right to evaluate the feasibility of subjects for this trial based on his/her health condition.

3. Patients with anti-AAV2 neutralizing antibody titer over 1,200 folds or an ELISA OD over 1 cannot be recruited into this trial.

4. Subjects participating in this trial cannot take any medications that may affect this clinical trial, which do not apply to those drugs used at specified duration as mentioned in this protocol.