Recombinant Adeno-associated Virus Administration for Patients With Menkes Syndrome (NCT05507996) | Clinical Trial Compass
TerminatedEarly Phase 1
Recombinant Adeno-associated Virus Administration for Patients With Menkes Syndrome
Stopped: The PI decides to stop.
China1 participantsStarted 2022-08-18
Plain-language 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.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Monitoring the disease course or vital signs to assess the efficacy of the investigational medical product
Timeframe: Up to the end of life after infusion or 12 months after the age of 3 years
2
Incidence of adverse events(AE) after the investigational medical product infusion
Timeframe: Up to 12 months after the investigational medical product infusion