Ignite Creation Date:
2026-03-26 @ 3:16 PM
Ignite Modification Date:
2026-04-06 @ 7:13 PM
Study NCT ID:
NCT07447557
Status:
NOT_YET_RECRUITING
Last Update Posted:
2026-03-03
First Post:
2026-01-20
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2026-03-25'}, 'conditionBrowseModule': {'meshes': [{'id': 'C566984', 'term': 'Charcot-Marie-Tooth Disease, Type 4j'}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE1', 'PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 8}}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2026-04', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2026-02', 'completionDateStruct': {'date': '2031-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2026-02-26', 'studyFirstSubmitDate': '2026-01-20', 'studyFirstSubmitQcDate': '2026-02-26', 'lastUpdatePostDateStruct': {'date': '2026-03-03', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2026-03-03', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2031-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Incidence of Grade 3 or Higher Unanticipated Treatment-Related Adverse Events', 'timeFrame': '60 months', 'description': '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.'}], 'secondaryOutcomes': [{'measure': 'Improvement or stabilization of muscle fat fraction (MFF) by MRI', 'timeFrame': '60 months', 'description': 'Improvement or stabilization of muscle fat fraction (MFF) by MRI of bilateral thigh and calf muscle evaluation'}, {'measure': 'Improvement or stabilization in functional ability as measured by Charcot-Marie-Tooth Pediatric Scale (CMTPedS) score', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization in functional ability as measured by CMT Functional Outcome Measure (CMTFOM) score', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization in functional ability as measured by Timed Up and Go (TUG) Score', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization in Pediatric Evaluation of Disability Inventory - Computer Adaptive Test (PEDI-CAT) Scores', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization in quality of life as measured by Pediatric Charcot-Marie-Tooth Quality of Life (pCMT-QOL)', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization in quality of life as measured by Charcot-Marie-Tooth Health Index (CMTHI)', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of cognitive function as measured by Vineland Adaptive Behavior Scales, 3rd edition (Vineland-3) Scores', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of cognitive function as measured by Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-3) Scores', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of cognitive function as measured by Stanford-Binet Intelligence Scales, 5th edition (SB-5) scores', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of peripheral nerve function', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of peripheral nerve function', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of peripheral nerve function', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of peripheral nerve function', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of pulmonary function', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of pulmonary function', 'timeFrame': '60 months', 'description': '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.'}, {'measure': 'Improvement or stabilization of pulmonary function', 'timeFrame': '60 months', 'description': '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.'}]}, 'oversightModule': {'isFdaRegulatedDrug': True, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['CMT4J', 'Gene therapy'], 'conditions': ['Charcot-Marie-Tooth Disease Type 4J']}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '20 Years', 'minimumAge': '3 Years', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Male and females between the ages of 3 and 20 years at the time of screening.\n* 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).\n* Clinical signs and symptoms consistent with CMT4J disease/motor symptoms\n* No more than moderate severity of the disease as measured by a CMTPeds score of \\<35\n* 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.\n* 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\n* Male subjects must agree not to donate sperm for the remainder of their lifetime after receiving ELP-02\n* Female subjects must agree not to donate eggs for the remainder of their lifetime after receiving ELP-02\n\nExclusion Criteria:\n\n* 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.\n* 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.\n* History of HbA1C \\> 6.0%\n* Contraindication or unwillingness to undergo lumbar puncture.\n* Presence of a concomitant medical condition that precludes use of anesthetics for sedated procedures.\n* History of hypersensitivity to sirolimus, tacrolimus, corticosteroids, gadolinium, iodine or shellfish.\n* Concomitant chronic drug treatment that would cause clinically significant interactions with immunosuppressive agents used in the study.\n* The presence of significant CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study.\n* Recent or planned elective surgical procedures that would confound the scientific rigor or interpretation of results of the study.\n* Reason to believe that the subject or parents of the subject will not comply with the study procedures outlined in the study protocol.\n* 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.\n* Enrollment and participation in another interventional clinical trial 90 days before first visit.\n* Diagnosis of a second neurodegenerative/peripheral neuropathy disease or another genetic syndrome with a progressive course.\n* Advanced stage disease defined by the use of chronic invasive ventilatory support (tracheostomy with ventilator dependence) and a non-communicative status.\n* Active viral infection (including HIV or serology positive for Hepatitis B or C, or COVID-19).\n* Bacterial infection requiring antibiotics within the 6 weeks prior to infusion.\n* Positive beta hCG pregnancy test (females of childbearing age will have pregnancy test at Screening and Day-1)."}, 'identificationModule': {'nctId': 'NCT07447557', 'briefTitle': 'Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)', 'organization': {'class': 'INDUSTRY', 'fullName': 'Elpida Therapeutics SPC'}, 'officialTitle': '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)', 'orgStudyIdInfo': {'id': 'CT-ELP02-01'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Treatment Arm', 'description': 'Single lumbar intrathecal delivery of ELP-02', 'interventionNames': ['Genetic: ELP-02']}], 'interventions': [{'name': 'ELP-02', 'type': 'GENETIC', '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.', 'armGroupLabels': ['Treatment Arm']}]}, 'contactsLocationsModule': {'centralContacts': [{'name': 'Rachel Thomas, RN', 'role': 'CONTACT', 'email': 'studyinfo@elpidatx.com', 'phone': '1-833-335-7432'}]}, 'ipdSharingStatementModule': {'url': 'https://www.elpidatx.com/', 'infoTypes': ['STUDY_PROTOCOL'], 'ipdSharing': 'YES'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Elpida Therapeutics SPC', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}