NCT07173153Enrolling By Invitation1 期
Phase I/II Intrathecal Gene Delivery Clinical Trial of scAAV9.P546.SLC6A1 for SLC6A1 Neurodevelopmental Disorder
Emily de los Reyes1 个研究点 分布在 1 个国家目标入组 1 人开始时间: 2025年8月25日最近更新:
干预措施
相关药物
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
- Monitoring for the development of unacceptable toxicity.
研究概览
简要总结
This is gene therapy study of an AAV9 vector carrying the SLCA1 gene for SLC6A1 neurodevelopmental disorder.
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
- •Confirmation of pathogenic mutation S295L in the SLC6A1 gene
- •Ability to cooperate and complete assessments per determination of the physician and therapists
排除标准
- •Serological evidence of HIV infection, or Hepatitis B or C infection
- •Diagnosis of (or ongoing treatment) for an autoimmune disease
- •Presence of a medical condition or extenuating circumstance that, in the opinion of the Sponsor-Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability
- •Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥20.0 K/µL) or an absolute neutrophil count < 1.5K/µL
- •Concomitant illness or requirement for chronic drug treatment that in the opinion of the Sponsor-Investigator creates unnecessary risks for gene transfer
- •AAV9 binding antibody titers > 1:400 as determined by ELISA immunoassay
- •Contraindications for intrathecal injection procedure (e.g. spina bifida, meningitis, or clotting abnormalities)
- •Abnormal laboratory values in the clinically significant range upon normal values in the Nationwide Children's Hospital Laboratory. (GGT > 78 U/L, Bilirubin ≥ 3.0 mg/dL , Creatinine ≥ 1.8 mg/dL, Hgb < 8 or > 18 g/dL; WBC > 15,000 cells per mL)
- •Family does not want to disclose participant's study participation with primary care physician and other medical providers.
- •Bleeding disorder or any other medical conditions or circumstances in which intrathecal (IT) administration of the product or lumbar puncture (for collection of CSF) are contradicted according to local institutional policy
- •Two consecutive aminotransaminase liver tests >3 times the upper limit of normal) at screening
- •Contraindications for MRI scans (e.g., cardiac pacemaker, metal fragment or chip in the eye, aneurysm clip in the brain
研究组 & 干预措施
AAV9.SLC6A1 Gene Therapy
Experimental
干预措施: AAV9.SLC6A1 Gene Therapy (Biological)
结局指标
主要结局
Monitoring for the development of unacceptable toxicity.
时间窗: 3 years
Unacceptable toxicity is defined as the occurrence of two or more unexpected Grade III or higher treatment-related toxicities that are at least possibly related to the product or procedure, as defined by CTCAE 5.0.
次要结局
- Change the Autism Diagnostic Schedule (ADOS), Module 3, scores from baseline to 3 years following gene therapy.(3 years)
- Change the Vineland Adaptive Behaviour Scale (VABS) scores from baseline to 3 years following gene therapy.(3 years)
- Change the Child Behaviour Checklist scores from baseline to 3 years following gene therapy.(3 years)
研究者
Emily de los Reyes
Principal Investigator
Nationwide Children's Hospital
研究点 (1)
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