NCT07447557招募中1 期
A Phase 1/2 Open-Label Study to Evaluate the Safety, Tolerability and Efficacy of a Single Dose of ELP-02 Delivered Via Lumbar Intrathecal Administration in Charcot-Marie-Tooth-4J (CMT4J)
Elpida Therapeutics SPC2 个研究点 分布在 1 个国家目标入组 8 人开始时间: 2026年8月7日最近更新:
干预措施
试验速览
- 阶段
- 1 期
- 状态
- 招募中
- 发起方
- 入组人数
- 8
- 试验地点
- 2
- 主要终点
- Incidence of Grade 3 or Higher Unanticipated Treatment-Related Adverse Events
研究概览
简要总结
First-in-human Phase 1/2, open-label study to evaluate the safety, tolerability, and efficacy of a single lumbar intrathecal dose of ELP-02 to individuals with CMT4J.
详细描述
ELP-02 is an AAV9-based gene therapy vector that expresses the fully functional form of FIG4 under the control of a synthetic promoter. ELP-02 will be delivered intrathecally and is designed to achieve stable, potentially life-long expression of FIG4 in non-dividing cells. This clinical study is a first-in-human study designed to assess safety and tolerability of ELP-02 in individuals with CMT4J.
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
- 3 Years 至 20 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male and females between the ages of 3 and 20 years at the time of screening.
- •Molecularly-confirmed diagnosis of CMT4J (confirmed by a CLIA certified, CE-marked, or equivalent lab) due to bi-allelic pathogenic variants (by ACMG criteria) in the FIG4 gene where one of the mutations must be the pathogenic I41T variant, with the second mutation either being another pathogenic or likely pathogenic variant (by ACMG criteria).
- •Clinical signs and symptoms consistent with CMT4J disease/motor symptoms
- •No more than moderate severity of the disease as measured by a CMTPeds score of <35 or investigator's discretion
- •Written informed consent provided by subject/parent/guardian and willingness to participate and comply with all the study related visits and procedures. Assent provided by children 10 to 17 years old based on their ability to understand the risks and possible benefits, and the activities expected of them.
- •Subjects able to reproduce must use a barrier method of contraception for the first 12 months after dosing as well as at least one additional acceptable birth control method if sexually active
- •Male subjects must agree not to donate sperm for the remainder of their lifetime after receiving ELP-02
- •Female subjects must agree not to donate eggs for the remainder of their lifetime after receiving ELP-02
排除标准
- •Prior or ongoing medical condition, medical history, physical findings, cardiovascular/ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.
- •Clinically significant abnormal laboratory values (hemoglobin < 6 or > 20 g/dL; white blood cell > 20,000 per cmm, platelets count < 100,000 per cmm; INR > ULN; GGT, ALT, and AST or total bilirubin > 2x ULN, creatinine ≥ 1.5 mg/dL) prior to gene replacement therapy.
- •History of HbA1C > 6.0%
- •Contraindication or unwillingness to undergo lumbar puncture.
- •Presence of a concomitant medical condition that precludes use of anesthetics for sedated procedures.
- •History of hypersensitivity to sirolimus, tacrolimus, corticosteroids, gadolinium, iodine or shellfish.
- •Concomitant chronic drug treatment that would cause clinically significant interactions with immunosuppressive agents used in the study.
- •The presence of significant CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study.
- •Recent or planned elective surgical procedures that would confound the scientific rigor or interpretation of results of the study.
- •Reason to believe that the subject or parents of the subject will not comply with the study procedures outlined in the study protocol.
- •Have received an investigational drug within 30 days prior to screening or plan to receive an investigational drug (other than gene therapy) during the study.
- •Enrollment and participation in another interventional clinical trial 90 days before first visit.
- •Diagnosis of a second neurodegenerative/peripheral neuropathy disease or another genetic syndrome with a progressive course.
- •Advanced stage disease defined by the use of chronic invasive ventilatory support (tracheostomy with ventilator dependence) and a non-communicative status.
- •Active viral infection (including HIV or serology positive for Hepatitis B or C, or COVID-19).
- •Bacterial infection requiring antibiotics within the 6 weeks prior to infusion.
- •Positive beta hCG pregnancy test (females of childbearing age will have pregnancy test at Screening and Day-1).
研究组 & 干预措施
Treatment Arm
Experimental
Single lumbar intrathecal delivery of ELP-02
干预措施: ELP-02 (Genetic)
结局指标
主要结局
Incidence of Grade 3 or Higher Unanticipated Treatment-Related Adverse Events
时间窗: 60 months
Incidence and severity of unanticipated treatment-related adverse events graded as Grade 3 or higher will be assessed based on the occurrence of serious adverse events (SAEs) and adverse events (AEs), classified according to Common Terminology Criteria for Adverse Events (CTCAE) Version 5.0.
次要结局
- Improvement or stabilization of muscle fat fraction (MFF) by MRI(60 months)
- Improvement or stabilization in functional ability as measured by Charcot-Marie-Tooth Pediatric Scale (CMTPedS) score(60 months)
- Improvement or stabilization in functional ability as measured by CMT Functional Outcome Measure (CMTFOM) score(60 months)
- Improvement or stabilization in functional ability as measured by Timed Up and Go (TUG) Score(60 months)
- Improvement or stabilization in Pediatric Evaluation of Disability Inventory - Computer Adaptive Test (PEDI-CAT) Scores(60 months)
- Improvement or stabilization in quality of life as measured by Pediatric Charcot-Marie-Tooth Quality of Life (pCMT-QOL)(60 months)
- Improvement or stabilization in quality of life as measured by Charcot-Marie-Tooth Health Index (CMTHI)(60 months)
- Improvement or stabilization of cognitive function as measured by Vineland Adaptive Behavior Scales, 3rd edition (Vineland-3) Scores(60 months)
- Improvement or stabilization of cognitive function as measured by Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-3) Scores(60 months)
- Improvement or stabilization of cognitive function as measured by Stanford-Binet Intelligence Scales, 5th edition (SB-5) scores(60 months)
- Improvement or stabilization of peripheral nerve function(60 months)
- Improvement or stabilization of pulmonary function(60 months)
研究者
研究点 (2)
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