Recombinant Adeno-associated Virus Administration for Patients With Menkes Syndrome

• Status: Recruiting
• Trial end date: 2024-12-31
• Target enrollment: 0
• Participant gender: All

Summary

It is a single-center, open, single-arm, non-randomized investigator-initiated trial evaluating the efficacy and safety of recombinant adeno-associated virus administration for patients with Menkes syndrome.

• Phase: Early Phase 1
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Kunming Hope of Health Hospital
• Collaborator: 920th Hospital of Joint Logistics Support Force of People's Liberation Army of China

Criteria

Inclusion Criteria:

1. The definitive diagnosis of Menkes disease is determined by molecular genetic confirmation of ATP7A mutations.

2. Disorder of copper metabolism with the serum copper < 50 ug/dl (reference 70-180 ug/dl) and ceruloplasmin < 20 mg/dl (reference 20-45 mg/dl) in the absence of copper supplement injection.

3. Clinical onsets of developmental retardation, seizures, and hypotonia with delay in poor head control and inability to sit at the age of 2-3 months.

4. willingness to complete the informed consent process and to comply with study procedures and visit schedule.

5. willingness to agree with the demand of nasal or gastrostomy feeding for nutrition maintenance in the opinion of the investigator.

Exclusion Criteria:

1. Inability to be accepted for delivering the Investigational medical product due to failure to recover from severe or acute diseases.

2. Presence of specific anti-AAV antibodies.

3. Active viral infection (includes HIV, COVID-19, or serology positive for hepatitis B or C).

4. Allergy to the substance or excipients in the Investigational medical product solution.

5. Previous or current participation in any other gene therapies.

6. Severe abnormality of hepatic, renal, and cardiac function.