Gene therapy for AADC deficiency

Phase 1

• Conditions: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency

• Registration Number: JPRN-jRCTs033180309
• Lead Sponsor: Kojima Karin

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2019-03-15
• Last Update Posted: 17 October 2023

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 8

Inclusion Criteria

1)Patients who have AADC deficiency with symptoms such as motor dysfunction and dystonia, and whose diagnosis has been confirmed by cerebrospinal fluid inspection findings, by enzyme activity measurement, or by genetic diagnosis.
2)Patients aged 2 years or older at the time of treatment.
3)Patients who do not show findings suggesting any other neurodegenerative disease.
4)Patients who are able to abide by the conditions essential for the research, including frequent medical examinations after the treatment.
5)Patients who have not changed any medications for at least 1 month prior to participation in this research.
6)Patients whose families have had a full explanation, have given their consent, and have signed the consent form.

Exclusion Criteria

1) Patients with cerebrovascular disease or other clear cardiovascular disease.
2) Patients who also have an intracerebral malignant neoplasm or other clinically evident neurological disorder.
3) Patients who have completed treatment for any malignant tumor other than skin cancer within the last 5 years.
4) Patients with high blood pressure (systolic blood pressure 160 mmHg or more).
5) Patients with blood coagulation disorder, or patients that require anticoagulant therapy.
6) Patients with a clinically evident immune disorder, or who require immunosuppressive agents.
7) Patients who cannot have MRI scans.
8) Patients in whom the generally recognized abnormal findings of AADC deficiency are not present on FMT-PET prior to the treatment.
9) Patients with a severe allergy to medication.
10)Patients who have taken part in a different clinical trial within the past 6 months.
11)Patients with severe liver disease, severe renal disease, or diabetes that is hard to control.
12)Patients with a serious general condition.
13)Patients who are otherwise judged by the overall director to be unfit to participate as subjects in the clinical research.

Study & Design

• Study Type: Interventional
• Study Design: Not specified