An Investigator-initiated Trial Evaluating the Efficacy and Safety of Recombinant Adeno-associated Virus Administration in Patients With Menkes Syndrome
试验速览
- 阶段
- 早期 1 期
- 状态
- 终止
- 发起方
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Monitoring the disease course or vital signs to assess the efficacy of the investigational medical product
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
A single-arm study of recombinant adeno-associated virus
An open, single-arm study of recombinant adeno-associated virus
干预措施: Recombinant adeno-associated virus administration (Drug)
结局指标
主要结局
Monitoring the disease course or vital signs to assess the efficacy of the investigational medical product
时间窗: Up to the end of life after infusion or 12 months after the age of 3 years
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).
Incidence of adverse events(AE) after the investigational medical product infusion
时间窗: Up to 12 months 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.
次要结局
- Weight(At baseline and 3, 6, 9, 12 months after infusion)
- Developmental behavior assessment(At baseline and 3, 6, 9, 12 months after infusion)
- Height(At baseline and 3, 6, 9, 12 months after infusion)
- Head circumference(At baseline and 3, 6, 9, 12 months after infusion)