Charcot-Marie-Tooth Disease Type 4JPhase 1/2NCT07447557
Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)
A Phase 1/2 study testing ELP-02 in people with Charcot-Marie-Tooth Disease Type 4J, run by Elpida Therapeutics SPC at 2 sites in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 3 to 20 years
- Conditions the study is for
- Charcot-Marie-Tooth Disease Type 4J
- What is being tested?
- ELP-02
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 2 sitesUnited States
- Study dates
- 7 Aug 2026to Dec 2032
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 20 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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.
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- 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).
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Not yet recruiting
University of Iowa
Iowa City, Iowa, 52242
Nicole Kressin, MSN, RN, 319-678-8596, nicole-kressin@uiowa.edu
Michael Shy, MD
- Recruiting
Stanford University
Palo Alto, California, 94304
Neuromuscular Research, 650-725-4341, neuromuscularresearch@stanford.edu
John W Day, MD, PhD
About this study
Official title: 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)
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.
Read the detailed description
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.
- Conditions
- Charcot-Marie-Tooth Disease Type 4J
- Being tested
- ELP-02
- Keywords
- CMT4J, Gene therapy
- Medical subject headings
- Charcot-Marie-Tooth Disease, Type 4j
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ELP-02Genetic
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.
| Study group | Role | What they receive |
|---|---|---|
| Treatment Arm | Experimental | Single lumbar intrathecal delivery of ELP-02 Receives: Genetic: ELP-02 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of Grade 3 or Higher Unanticipated Treatment-Related Adverse Events
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.
Measured: 60 months
Secondary outcomes (17)
Improvement or stabilization of muscle fat fraction (MFF) by MRI
Improvement or stabilization of muscle fat fraction (MFF) by MRI of bilateral thigh and calf muscle evaluation
Measured: 60 months
Improvement or stabilization in functional ability as measured by Charcot-Marie-Tooth Pediatric Scale (CMTPedS) score
Improvement or stabilization in functional abilities as measured by the total or subcomponents of the CMTPedS scale. Total scores range from 0 to 44, where lower scores indicate better functional ability.
Measured: 60 months
Improvement or stabilization in functional ability as measured by CMT Functional Outcome Measure (CMTFOM) score
Improvement or stabilization in functional abilities as measured by the CMTFOM Scale. Total scores range from 0 to 100, where lower scores indicate better functional performance.
Measured: 60 months
Improvement or stabilization in functional ability as measured by Timed Up and Go (TUG) Score
Improvement or stabilization in functional abilities as measured by the Timed Up and Go (TUG). Performance is measured as the time required to complete the TUG test, reported in seconds, with shorter completion times indicating better functional mobility.
Measured: 60 months
Improvement or stabilization in Pediatric Evaluation of Disability Inventory - Computer Adaptive Test (PEDI-CAT) Scores
Improvement or stabilization in Pediatric Evaluation of Disability Inventory - Computer Adaptive Test (PEDI-CAT). The PEDI-CAT assesses functional performance across multiple domains and reports standardized scores ranging from approximately 20 to 80, with higher scores indicating better functional ability.
Measured: 60 months
Improvement or stabilization in quality of life as measured by Pediatric Charcot-Marie-Tooth Quality of Life (pCMT-QOL)
Improvement or stabilization in quality of life as measured by the Pediatric CMT Quality of Life (pCMT-QOL) questionnaire. The pCMT-QOL is a disease-specific quality-of-life questionnaire with total scores ranging from 0 to 100, where higher scores indicate worse quality of life.
Measured: 60 months
Improvement or stabilization in quality of life as measured by Charcot-Marie-Tooth Health Index (CMTHI)
Improvement or stabilization in quality of life as measured by the CMTHI questionnaire. The CMTHI is a patient-reported outcome measure with total scores ranging from 0 to 100, where higher scores indicate worse health-related quality of life.
Measured: 60 months
Improvement or stabilization of cognitive function as measured by Vineland Adaptive Behavior Scales, 3rd edition (Vineland-3) Scores
Improvement or stabilization of cognitive function as measured by Vineland-3. The Vineland-3 reports standardized domain and composite scores with a mean of 100 and a standard deviation of 15, with scores ranging approximately from 20 to 160. Higher scores indicate better adaptive functioning.
Measured: 60 months
Improvement or stabilization of cognitive function as measured by Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-3) Scores
Improvement or stabilization of cognitive function as measured by Bayley-3, administered to subjects as appropriate. The Bayley-3 cognitive composite score is standardized with a mean of 100 and a standard deviation of 15, with scores ranging approximately from 40 to 160. Higher scores indicate better cognitive performance.
Measured: 60 months
Improvement or stabilization of cognitive function as measured by Stanford-Binet Intelligence Scales, 5th edition (SB-5) scores
Improvement or stabilization of cognitive function as measured by SB-5. The SB-5 provides standardized composite and domain scores with a mean of 100 and a standard deviation of 15, with scores ranging approximately from 40 to 160. Higher scores indicate better cognitive functioning.
Measured: 60 months
Improvement or stabilization of peripheral nerve function
Improvement or stabilization in peripheral nerve function as assessed by nerve conduction studies using standard clinical methodology, including compound muscle action potential amplitude, measured in selected sensory and motor nerves of the upper and lower extremities.
Measured: 60 months
Improvement or stabilization of peripheral nerve function
Improvement or stabilization in peripheral nerve function as assessed by nerve conduction studies using standard clinical methodology, including compound muscle action potential area, measured in selected sensory and motor nerves of the upper and lower extremities.
Measured: 60 months
Improvement or stabilization of peripheral nerve function
Improvement or stabilization in peripheral nerve function as assessed by nerve conduction studies using standard clinical methodology, including motor distal latencies, measured in selected sensory and motor nerves of the upper and lower extremities.
Measured: 60 months
Improvement or stabilization of peripheral nerve function
Improvement or stabilization in peripheral nerve function as assessed by nerve conduction studies using standard clinical methodology, including conduction velocity, measured in selected sensory and motor nerves of the upper and lower extremities.
Measured: 60 months
Improvement or stabilization of pulmonary function
Improvement or stabilization of pulmonary function as assessed by pulmonary function testing, including lung volume measurements (Forced Vital Capacity [FVC] and Forced Expiratory Volume [FEV]) measured in subjects able to perform testing.
Measured: 60 months
Improvement or stabilization of pulmonary function
Improvement or stabilization of pulmonary function as assessed by pulmonary function testing, including lung volume measurements (Forced Expiratory Flow [FEF]), measured in subjects able to perform testing.
Measured: 60 months
Improvement or stabilization of pulmonary function
Improvement or stabilization of pulmonary function as assessed by pulmonary function testing, including maximal inspiratory and expiratory pressures, measured in subjects able to perform testing.
Measured: 60 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Mar 2026
- Study start7 Aug 2026
- Primary completionDec 2032 (estimated)
- Study completionDec 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth Disease Type 4JStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 8 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Elpida Therapeutics SPC
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07447557
- Sponsor's protocol ID
- CT-ELP02-01
- Status last verified
- Jul 2026
- First submitted
- 20 Jan 2026
- Last updated
- 9 Sep 2026
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 9 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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)
- ClinicalTrials.gov ID
- NCT07447557
- Acronym / sponsor ID
- CT-ELP02-01
- Conditions
- Charcot-Marie-Tooth Disease Type 4J
- Keywords
- CMT4J, Gene therapy
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 8 participants (estimated)
- Lead sponsor
- Elpida Therapeutics SPCIndustry (pharma, biotech, devices)
- Study start
- 7 Aug 2026 (actual)
- Primary completion
- Dec 2032 (estimated)
- Study completion
- Dec 2032 (estimated)
- First posted
- 3 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Treatment Arm | Experimental | Genetic: ELP-02Single lumbar intrathecal delivery of ELP-02 |
Who may qualify
- Ages
- 3 to 20 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (8 listed)
- 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.
Key exclusion criteria (17 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ELP-02ELP-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. | Genetic | Treatment Arm |
Primary outcome
Incidence of Grade 3 or Higher Unanticipated Treatment-Related Adverse Events
Time frame: 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.
17 secondary outcomes
Improvement or stabilization of muscle fat fraction (MFF) by MRI
Time frame: 60 months
Improvement or stabilization in functional ability as measured by Charcot-Marie-Tooth Pediatric Scale (CMTPedS) score
Time frame: 60 months
Improvement or stabilization in functional ability as measured by CMT Functional Outcome Measure (CMTFOM) score
Time frame: 60 months
Improvement or stabilization in functional ability as measured by Timed Up and Go (TUG) Score
Time frame: 60 months
Improvement or stabilization in Pediatric Evaluation of Disability Inventory - Computer Adaptive Test (PEDI-CAT) Scores
Time frame: 60 months
Improvement or stabilization in quality of life as measured by Pediatric Charcot-Marie-Tooth Quality of Life (pCMT-QOL)
Time frame: 60 months
Improvement or stabilization in quality of life as measured by Charcot-Marie-Tooth Health Index (CMTHI)
Time frame: 60 months
Improvement or stabilization of cognitive function as measured by Vineland Adaptive Behavior Scales, 3rd edition (Vineland-3) Scores
Time frame: 60 months
Improvement or stabilization of cognitive function as measured by Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-3) Scores
Time frame: 60 months
Improvement or stabilization of cognitive function as measured by Stanford-Binet Intelligence Scales, 5th edition (SB-5) scores
Time frame: 60 months
Improvement or stabilization of peripheral nerve function
Time frame: 60 months
Improvement or stabilization of peripheral nerve function
Time frame: 60 months
Improvement or stabilization of peripheral nerve function
Time frame: 60 months
Improvement or stabilization of peripheral nerve function
Time frame: 60 months
Improvement or stabilization of pulmonary function
Time frame: 60 months
Improvement or stabilization of pulmonary function
Time frame: 60 months
Improvement or stabilization of pulmonary function
Time frame: 60 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Sep 2026.
- Individual participant dataSharing planned: Yes
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing ELP-02 in people with Charcot-Marie-Tooth Disease Type 4J, run by Elpida Therapeutics SPC at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 17 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Rachel Thomas, RN (1-833-335-7432, studyinfo@elpidatx.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of Grade 3 or Higher Unanticipated Treatment-Related Adverse Events (time frame: 60 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Sep 2026.