Recombinant Adeno-associated Virus Administration for Patients With Menkes Syndrome

  • End date
    Dec 31, 2024
  • participants needed
  • sponsor
    Kunming Hope of Health Hospital
Updated on 4 October 2022


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.

Condition Menkes Syndrome
Treatment Recombinant adeno-associated virus administration
Clinical Study IdentifierNCT05507996
SponsorKunming Hope of Health Hospital
Last Modified on4 October 2022


Yes No Not Sure

Inclusion Criteria

The definitive diagnosis of Menkes disease is determined by molecular genetic confirmation of ATP7A mutations
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
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
willingness to complete the informed consent process and to comply with study procedures and visit schedule
willingness to agree with the demand of nasal or gastrostomy feeding for nutrition maintenance in the opinion of the investigator

Exclusion Criteria

Inability to be accepted for delivering the Investigational medical product due to failure to recover from severe or acute diseases
Presence of specific anti-AAV antibodies
Active viral infection (includes HIV, COVID-19, or serology positive for hepatitis B or C)
Allergy to the substance or excipients in the Investigational medical product solution
Previous or current participation in any other gene therapies
Severe abnormality of hepatic, renal, and cardiac function
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How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer  to help accelerate the development of new treatments and to get notified about similar trials.

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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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