[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Elpida Therapeutics SPC\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":123},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,46,75,98],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":29,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100569320","phase-3-phase-3-efficacy-study-with-concurrent-control-of-it-melpida-in-spg50concurrent-controls-100569320",false,"NCT06692712","Phase 3 Efficacy Study With Concurrent Control of IT MELPIDA in SPG50.Concurrent Controls.","Intrathecal Administration of MELPIDA (AAV9\u002FAP4M1) For Hereditary Spastic Paraplegia Type 50 (SPG50): A Phase 3, Open-Label Trial With Matched Prospective Concurrent Control Arm","SPG50","Inclusion:\n\nFor the treatment group\n\n* Male and females between the ages of 4 months to 72 months at the time of screening.\n* Molecularly-confirmed diagnosis of SPG50 (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating bi-allelic pathogenic or likely pathogenic variants in the AP4M1 gene.\n* Subjects must have features of neurologic dysfunction by clinical history and physical examination.\n* Stable doses of concomitant medications such as anti-spasticity medications, anti-seizure medications, behavioral management medications, sleep medications, and special diets, supplements, or nutritional support for at least 3 months prior to Screening. If recent changes (\\\u003C 3 months) in medications, the subject may be allowed per Investigator judgement.\n* Parent\u002Flegal guardian willing to provide written informed consent for their child prior to participation in the study,\n* Subjects and caregivers must demonstrate the ability to travel to the study center. For the 30 days post treatment subjects must reside within 100 miles (approximately 160 km) of the clinical site.\n\nFor the control group\n\n* Male and females between the ages of 4 to 72 months at the time of screening.\n* A molecularly confirmed diagnosis of SPG47, SPG50 or SPG52 (confirmed by a CLIA certified, CE-marked, or equivalent lab). Genomic DNA mutation analysis demonstrating bi-allelic pathogenic variants in the AP4B1, AP4M1, or AP4S1 gene,\n* Subjects must have features of neurologic dysfunction by clinical history and physical examination.\n* Parent\u002Flegal guardian willing to provide written informed consent for their child prior to participation in the study.\n* Subject able to comply with all protocol requirements and procedures.\n* Subjects and caregivers must demonstrate the ability to travel to the study center.\n\nExclusion\n\nFor the treatment group\n\n* Loss of one of the 8 major motor milestones within the last 12 months. Milestones defined as:\n\n  * #24: Sit on mat: Maintain, arms free, 3 seconds\n  * #44: 4 Point: Crawls or hitches forward 1.8m (6')\n  * #53: Standing: Maintains, arms free, 3 seconds\n  * #67: Standing: 2 hands held: walks forward 10 steps\n  * #69: Standing: Walks forward 10 steps\n  * #84: Standing: Holding 1 rail: walks up 4 steps, holding 1 rail, alternating feet\n  * #85: Standing: Holding 1 rail: walks down 4 steps, holding 1 rail, alternating feet\n  * #88: Standing on 15cm (6\") step: Jumps off, both feet simultaneously\n* Inability to participate in the clinical evaluation as determined by the principal investigators.\n* Clinically significant abnormal laboratory values (hemoglobin \\\u003C 6 or \\> 20 g\u002FdL; white blood cell \\> 20,000 per cmm, platelets count \\\u003C 100,000 per cmm; INR \\> ULN; GGT, ALT, and AST or total bilirubin \\> 1.5 × ULN, creatinine ≥ 1.5 mg\u002FdL) prior to gene replacement therapy.\n* Presence of a concomitant medical condition (eg, scoliosis or bleeding disorder) that precludes a lumbar puncture or use of anesthetics for sedated procedures.\n* Documented cardiomyopathy or significant congenital heart abnormalities.\n* History of severe\u002Flife-threatening allergic reaction to sirolimus, tacrolimus, corticosteroids, or gadolinium.\n* Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer, or interactions with the immunosuppressive agents.\n* Any item which would exclude the subject from being able to undergo MRI according to local institutional policy, or any other procedure.\n* The presence of significant AP-4 related 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 (within 6 months) that would confound the scientific rigor or interpretation of results of the study.\n* Failure to obtain appropriate informed consent.\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 (screening).\n\nFor the control group\n\n* Loss of one of the 8 major motor milestones within the last 12 months. Milestones defined as:\n\n  * #24: Sit on mat: Maintain, arms free, 3 seconds\n  * #44: 4 Point: Crawls or hitches forward 1.8m (6')\n  * #53: Standing: Maintains, arms free, 3 seconds\n  * #67: Standing: 2 hands held: walks forward 10 steps\n  * #69: Standing: Walks forward 10 steps\n  * #84: Standing: Holding 1 rail: walks up 4 steps, holding 1 rail, alternating feet\n  * #85: Standing: Holding 1 rail: walks down 4 steps, holding 1 rail, alternating feet\n  * #88: Standing on 15cm (6\") step: Jumps off, both feet simultaneously\n* Inability to participate in the clinical evaluation as determined by the principal investigators.\n* Any other situation that would exclude the subject from undergoing any other procedure required in this study.\n* The presence of significant AP-4 related 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* Failure to obtain appropriate informed consent.\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 plans 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 (screening).","ALL","4 Months","72 Months",{"count":21,"type":22},24,"ESTIMATED","INTERVENTIONAL",[25],"PHASE3","Phase 3, open-label study to assess the efficacy and safety of a single lumbar intrathecal administration of MELPIDA in individuals with Hereditary Spastic Paraplegia Type 50 (SPG50).",[28],"Hereditary Spastic Paraplegia Type 50",[15,30,31,32],"Spastic Paraplegia","Gene Therapy","Phase 3","RECRUITING","2026-04-16",{"date":36,"type":37},"2026-04-20","ACTUAL",{"date":39,"type":37},"2026-04-01",{"date":41,"type":22},"2032-06-01",{"name":43,"class":44},"Elpida Therapeutics SPC","INDUSTRY",2,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":51,"acronym":4,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":17,"minAge":53,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":23,"phases":57,"briefSummary":60,"conditions":61,"keywords":63,"overallStatus":66,"whyStopped":4,"lastUpdateSubmitDate":67,"lastUpdatePostDateStruct":68,"startDateStruct":70,"completionDateStruct":72,"leadSponsor":74,"locationsCount":4},"100627355","phase-1-study-of-intrathecal-elp-02-for-charcot-marie-tooth-disease-type-4j-cmt4j-100627355","NCT07447557","Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)","A Phase 1\u002F2 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)","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\u002Fmotor symptoms\n* No more than moderate severity of the disease as measured by a CMTPeds score of \\\u003C35\n* Written informed consent provided by subject\u002Fparent\u002Fguardian 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\u002FECG 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 \\\u003C 6 or \\> 20 g\u002FdL; white blood cell \\> 20,000 per cmm, platelets count \\\u003C 100,000 per cmm; INR \\> ULN; GGT, ALT, and AST or total bilirubin \\> 2x ULN, creatinine ≥ 1.5 mg\u002FdL) 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\u002Fperipheral 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).","3 Years","20 Years",{"count":56,"type":22},8,[58,59],"PHASE1","PHASE2","First-in-human Phase 1\u002F2, open-label study to evaluate the safety, tolerability, and efficacy of a single lumbar intrathecal dose of ELP-02 to individuals with CMT4J.",[62],"Charcot-Marie-Tooth Disease Type 4J",[64,65],"CMT4J","Gene therapy","NOT_YET_RECRUITING","2026-02-26",{"date":69,"type":37},"2026-03-03",{"date":71,"type":22},"2026-04",{"date":73,"type":22},"2031-12",{"name":43,"class":44},{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":79,"acronym":64,"eligibilityCriteria":80,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":81,"targetDuration":4,"studyType":83,"phases":4,"briefSummary":84,"conditions":85,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":89,"lastUpdatePostDateStruct":90,"startDateStruct":92,"completionDateStruct":94,"leadSponsor":96,"locationsCount":97},"100527733","a-prospective-natural-history-and-outcome-measure-discovery-study-of-charcot-marie-tooth-disease-type-4j-100527733","NCT06151600","A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J","Inclusion Criteria:\n\n1. Male or female, all ages\n2. A molecularly-confirmed diagnosis of CMT4J (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating 1) bi-allelic pathogenic and\u002For likely pathogenic variants (by ACMG criteria) in the FIG4 gene, or 2) bi-allelic variants with one pathogenic and\u002For likely pathogenic variant in trans with a variant of uncertain significance if laboratory evidence and expert consensus exits in support of loss of FIG4 function exists.\n3. Informed consent from patients 18 years or older who are able to provide consent and from caregivers; parent(s)\u002Fguardian(s) providing consent for subjects younger than 18 years at Screening and patients older than 18 years unable to provide informed consent\n4. Informed assent of patients younger than 18 years at Screening who are able to provide assent\n5. Able and willing to comply with the study protocol, including travel to Study Center, procedures, measurements and visits\n\nExclusion Criteria:\n\n1. Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype\n2. Current participation in an interventional or therapeutic study\n3. Receiving an investigational drug within 90 days of the Baseline Visit\n4. Prior or current treatment with gene or stem cell therapy\n5. Any other diseases which may significantly interfere with the assessment of CMT4J\n6. Have any other conditions, which, in the opinion of the Investigator or Sponsor would make the subject unsuitable for inclusion or could interfere with the subject participating in or completing the study",{"count":82,"type":22},20,"OBSERVATIONAL","This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J. The study will enroll 20 subjects of any age into a uniform protocol for follow-up and evaluations. Subject visits will occur every 12 months + 4 weeks for up to 2 years.",[86,87,88],"Peripheral Neuropathy","Neuro-Degenerative Disease","Neuromuscular Diseases","2026-01-20",{"date":91,"type":37},"2026-01-22",{"date":93,"type":37},"2024-07-29",{"date":95,"type":22},"2032-03-01",{"name":43,"class":44},3,{"id":99,"slug":100,"hasResults":11,"nctId":101,"briefTitle":102,"officialTitle":103,"acronym":4,"eligibilityCriteria":104,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":105,"enrollmentInfo":106,"targetDuration":4,"studyType":23,"phases":107,"briefSummary":108,"conditions":109,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":114,"lastUpdatePostDateStruct":115,"startDateStruct":117,"completionDateStruct":119,"leadSponsor":121,"locationsCount":122},"100479069","phase-1-melpida-recombinant-adeno-associated-virus-serotype-9-encoding-a-codon-optimized-human-ap4m1-transgene-hap4m1opt-100479069","NCT05518188","Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)","A Phase 1\u002F2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients with Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene.","Inclusion Criteria:\n\n1. Age 4 months-10 years old\n2. Confirmed diagnosis of SPG50 disease by:\n\n   1. Genomic DNA mutation analysis demonstrating homozygous or compound heterozygous, confirmed pathogenic variants in the AP4M1 gene\n   2. Clinical history or examination features consistent with SPG50 and that include neurologic dysfunction\n3. Parent\u002Flegal guardian willing to provide written informed consent for their child prior to participation in the study\n4. Subject able to comply with all protocol requirements and procedures\n5. Ability to stand for more than 5 seconds OR\n6. Ability to take 5 steps independently or with a walker OR\n7. Modified Ashworth Scale score 2 or below (Ankles).\n\nExclusion Criteria:\n\n1. Inability to participate in study procedures (as determined by the site investigator)\n2. Presence of a concomitant medical condition that precludes lumbar puncture (LP) or use of anesthetics\n3. History of bleeding disorder or any other medical condition or circumstance in which lumbar puncture is contraindicated according to local institutional policy\n4. Inability to be safely sedated in the opinion of the clinical anesthesiologist\n5. Active infection, at the time of dosing, based on clinical observations\n6. Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer\n7. Inability of the patient to undergo MRI according to local institutional policy\n8. Inability of the patient to undergo any other procedure required in this study\n9. The presence of significant non-SPG50 related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study\n10. 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.\n11. Enrollment and participation in another interventional clinical trial\n12. Contraindication to MELPIDA or any of its ingredients\n13. Contraindication to any of the immune suppression medications used in this study\n14. Clinically significant abnormal laboratory values (GGT, ALT, and AST, or total bilirubin \\> 3 × ULN, creatinine ≥ 1.5 mg\u002FdL, hemoglobin \\[Hgb\\] \\< 6 or \\> 20 g\u002FdL; white blood cell \\[WBC\\] \\> 20,000 per cmm) prior to gene replacement therapy.","10 Years",{"count":5,"type":22},[58,59],"MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss. Outcomes will evaluate the safety and tolerability of a single dose of MELPIDA, which will be measured by the treatment-associated adverse events (AEs) and serious adverse events (SAEs). Secondarily, the trial will explore efficacy in terms of disease burden assessments.",[110,111,112,113,15,30],"Spasticity, Muscle","Microcephaly","Intellectual Deficiency","Growth Retardation","2024-10-04",{"date":116,"type":37},"2024-10-08",{"date":118,"type":37},"2023-02-15",{"date":120,"type":22},"2030-10-01",{"name":43,"class":44},1,""]