Recombinant Adeno-associated Virus Administration for Patients With Menkes Syndrome

An Investigator-initiated Trial Evaluating the Efficacy and Safety of Recombinant Adeno-associated Virus Administration in Patients With Menkes Syndrome

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.

Who can participate? Patients with Menkes syndrome were diagnosed by combining clinical and genetic diagnoses.

How to conduct this study? In this study, the constructed recombinant adeno-associated virus preparation will be delivered to patients with Menkes syndrome. After administration, close follow-up will be conducted for at least three months, followed by regular follow-up until at least the 12th month. The efficacy and safety of treatment will be observed and evaluated. After the completion of the study, participants will decide whether to participate in the long-term follow-up program for five years.

What are the possible benefits and risks of participating? Benefits: This study may prolong the life span and improve the prognosis of Menkes syndrome subjects. The information obtained from this study will help determine what treatment may be safe and effective for other subjects with similar conditions.

Risks: Subjects may have adverse reactions to the treatment. These adverse reactions may include abnormal liver injury, fever, thrombocytopenia, thrombotic microangiopathy, and possibly others.

Where is the study run? Kunming Hope of Health Hospital.

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.