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

SexALL

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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.

What they're measuring

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

Incidence of adverse events(AE) after the investigational medical product infusion

Timeframe: Up to 12 months after the investigational medical product infusion

Trial details

NCT IDNCT05507996

SponsorKunming Hope of Health Hospital

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2022-11-23

View on ClinicalTrials.gov More Menkes Syndrome trials