An Early Phase 1 interventional study of Recombinant adeno-associated virus administration in Menkes Syndrome, sponsored by Kunming Hope of Health Hospital. Terminated at 1 site in China. Per ClinicalTrials.gov, last updated 2022-11-30.
Sponsored by Kunming Hope of Health Hospital · Early Phase 1, Interventional, and Treatment
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.
9,217 studies on the registry are indexed under Syndrome; 1,031 are open to participants now.
This study's enrollment of 1 is below the median of 50 across 6,515 interventional studies indexed under Syndrome.
Browse Syndrome studies →Kunming Hope of Health Hospital is the lead sponsor of 3 studies on the registry; none are open to participants now.
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Exclusion Criteria:
An open, single-arm study of recombinant adeno-associated virus
Drug: Recombinant adeno-associated virus administration
The investigational medical product will be injected from 1E12 GC/kg to 1E14 GC/kg.
Monitoring the disease course or vital signs to assess the efficacy of the investigational medical product
Based on studies of the natural history of Menkes syndrome, which shows that patients have a life span of fewer than three years, this study will evaluate the endpoint of life of patients with the investigational medical product infusion. The endpoint of life is defined as death or the need for ventilatory support (device dependence of at least 16 hours per day for more than 14 days).
Time frame: 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
The frequency, severity, and laboratory findings of all adverse events/serious adverse events are included. Description, time, classification, and outcome of AE events resulted from the investigational medical product, delivery method, or emergency measures will be recorded in the case report form.
Time frame: Up to 12 months after the investigational medical product infusion
Developmental behavior assessment
CHOP INTEND was developed to be used on children from 3 months to over four years, although it is not limited to this age range. It was developed by looking at babies with SMA Type 1 and infants with other similar conditions, such as Menkes syndrome. There are 16 parts, and the scale scores infants on how well they can perform certain movements or what the physiotherapist sees while watching the child. Each one is scored from 0 to 4, with 0 being no response/ability to perform the movement and 4 being 'complete response' (being able to perform the task). The total possible score is 64. The Developmental Behavior Scale for Children aged 0-6 years (WS/T 580-2017) released by the Ministry of Health of China is used to monitor and evaluate the development improvement of patients in gross motor, fine motor, language, adaptive ability, and social behavior. The scale applies to children aged 0-6 years, with 8-10 test items in each group, totaling 261.
Time frame: At baseline and 3, 6, 9, 12 months after infusion
Weight
Record weight of patients in kilograms
Time frame: At baseline and 3, 6, 9, 12 months after infusion
Height
Record height of patients in meters
Time frame: At baseline and 3, 6, 9, 12 months after infusion
Head circumference
Record head circumference of patients in centimeters
Time frame: At baseline and 3, 6, 9, 12 months after infusion
This study is terminated, as verified in Nov 2022. You cannot join it, but the record below documents what was studied.
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Kunming Hope of Health Hospital