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Study of ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)

This study is testing a new gene therapy called ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J). ELP-02 is designed to deliver a working copy of the FIG4 gene into your body to help cells function properly. It will be given as a single injection into the fluid around your spinal cord (intrathecally). The main goal of this study is to see how safe ELP-02 is and if it causes any serious side effects over 60 months. You may be able to join if you are between 3 and 20 years old and have a confirmed diagnosis of CMT4J with specific genetic changes in the FIG4 gene. This study plans to enroll 8 participants.

Study design
This is a first-in-human, open-label study, meaning both you and the study team will know what treatment you are receiving. It is designed to evaluate the safety and tolerability of ELP-02 in individuals with CMT4J.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Your safety will be monitored for 60 months after receiving the treatment.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07447557

Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)

Recruiting
PHASE1Ages 3–20InterventionalTreatment
Elpida Therapeutics SPC
~8 participants
Updated 2026-07-08 on ClinicalTrials.gov
What's tested:ELP-02

At a glance

Recruiting sites
1 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Incidence of Grade 3 or Higher Unanticipated Treatment-Related Adverse Events
Measured over 60 months

Conditions

Charcot-Marie-Tooth Disease Type 4J

Explore related trials

Charcot-Marie-Tooth Disease Type 4JFIG4 Gene

Where it's being run

2 sites across 2 states
California1
Iowa1

Who to contact

Rachel Thomas, RN
[email protected]
1-833-335-7432
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

Exclusion

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).

What this trial measures

  • Incidence of Grade 3 or Higher Unanticipated Treatment-Related Adverse Events60 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.