NCT07398872Enrolling By Invitation1 期
Evaluating the Safety and Efficacy of AAV9.hMCOLN1co in Treating Mucolipidosis Type IV: A Single-Center, Interventional, Open-Label, Single-Arm Clinical Study
The Children's Hospital of Zhejiang University School of Medicine1 个研究点 分布在 1 个国家目标入组 1 人开始时间: 2026年1月13日最近更新:
干预措施
试验速览
- 阶段
- 1 期
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- To assess the types, severity, and incidence of adverse events(AEs) and serious adverse events(SAEs) following treatment
研究概览
简要总结
Safety and Efficacy of AAV9.hMCOLN1co for patients with Mucolipidosis Type IV(MLIV): A Single-Center, Interventional, Open-Label, Single-Arm Clinical Study. The goal of this clinical trial is to evaluate whether a gene therapy can safely treat children with MLIV.
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
- 年龄范围
- 18 Months 至 8 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Must be between 1.5 and 8 years of age(inclusive) at the time of signing the informed consent form
- •Diagnosed with Mucolipidosis type IV caused by MCOLN1 gene mutations
- •The legal guardian and/or the participant(if applicable) has signed the informed consent form
- •Meet the criteria for anesthesia and sedation appropriate for their age(as assessed by the investigator)
- •Has completed age-appropriate immunizations according to the National Immunization Program Schedule for Children
排除标准
- •Presence of any contraindication to lumbar puncture or intrathecal therapy (e.g., spina bifida, meningitis, coagulation disorders, obstructive spinal internal fixation devices) or presence of a cerebrospinal fluid (CSF) diversion/shunting device
- •At screening, severe joint contracture as assessed by the physiotherapist, affecting functional assessment or intrathecal administration
- •X-ray examination indicating severe scoliosis (Cobb angle ≥ 50°)
- •History of, or planned, scoliosis corrective surgery within 1 year before or after dosing
- •Use of invasive respiratory support (e.g., tracheostomy with positive pressure ventilation) or oxygen saturation while awake < 95% (or < 92% at altitudes > 1000 m)
- •Requirement for ≥ 12 hours/day of non-invasive respiratory support within 2 weeks prior to dosing
- •Dependence on gastric tube feeding with the majority of nutrition taken non-orally, or body weight below the 3rd percentile for age according to World Health Organization (WHO) standards (patients with an existing gastrostomy are not excluded)
- •Active viral infection, including human immunodeficiency virus (HIV), hepatitis B, hepatitis C, etc.
- •In the investigator's judgment, occurrence of a serious non-respiratory infection (e.g., pyelonephritis, meningitis) within 4 weeks prior to dosing, or presence of other serious comorbid disease
- •In the investigator's judgment, severe renal and/or hepatic impairment
- •Known history of epilepsy, diabetes, idiopathic hypocalciuria, symptomatic cardiomyopathy, etc.
- •In the investigator's judgment, history of bacterial meningitis or central nervous system disease (including tumors), with MRI/computed tomography (CT) indicating abnormalities that may affect lumbar puncture or cerebrospinal fluid circulation
- •In the investigator's judgment, allergy to prednisolone or other glucocorticoids and their excipients
- •In the investigator's judgment, allergy to gadolinium or gadolinium-containing contrast agents
- •Concomitant use of medications for myopathy/neuropathy, antidiabetic drugs, immunosuppressants, plasma exchange, or immunomodulators (e.g., adalimumab), or receipt of immunosuppressive therapy (e.g., glucocorticoids, cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab, etc.) within 3 months prior to dosing
- •Inability to discontinue laxatives or diuretics within 24 hours prior to dosing
- •Oral administration of β-receptor agonists within 30 days prior to dosing
- •Anti-AAV9 antibody titer > 1:50 (patients may be enrolled if a repeat test after a 2-4-week interval is ≤ 1:50)
- •Clinically significant abnormalities in laboratory parameters prior to gene replacement therapy, such as gamma-glutamyl transpeptidase (GGT)/ALT/AST/total bilirubin (TBIL) > 2 × upper limit of normal (ULN), estimated glomerular filtration rate (eGFR) < 60 mL/min, hemoglobin < 8 or > 18 g/dL, white blood cell count > 20,000/cmm, etc.
- •Anticipated need for major surgery (e.g., spinal surgery, tracheostomy) during the study period
- •Inability to comply with the study protocol or to attend scheduled follow-up visits
- •Refusal to sign the informed consent form and/or unwillingness to maintain the confidentiality of the study data.
研究组 & 干预措施
Treatment Arm AAV9. hMCOLN1co, a gene therapy product
Experimental
干预措施: AAV9.hMCOLN1co (Biological)
结局指标
主要结局
To assess the types, severity, and incidence of adverse events(AEs) and serious adverse events(SAEs) following treatment
时间窗: through study completion, an average of 5 years
collection of occurrence and severity of serious adverse events. Incidence of serious adverse events and adverse events throughout the study, as assessed by Common Terminology Criteria for Adverse Events (CTCAE) v5.0. Higher grade values indicated greater severity. Grade 1 - Grade 5.
次要结局
未报告次要终点
研究者
研究点 (1)
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