[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100644236":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":20,"centralContacts":21,"locations":27,"responsibleParty":45,"collaborators":47,"id":49,"slug":50,"hasResults":51,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":55,"eligibilityCriteria":56,"healthyVolunteers":51,"sex":57,"minAge":58,"maxAge":59,"enrollmentInfo":60,"targetDuration":20,"studyType":63,"phases":64,"briefSummary":67,"conditions":68,"keywords":70,"overallStatus":30,"whyStopped":20,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":81},{"fullName":5,"class":6},"Fondazione Telethon","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Open Label study with ex vivo expanded FT024 drug product","EXPERIMENTAL","The dose range for ex vivo-expanded FT024 is as follows:\n\n* target dose: 100-200x106 CD34+ cells\u002Fkg body weight;\n* minimum dose: 50x106 CD34+ cells\u002Fkg body weight;\n* maximum dose: 300x106 CD34+ cells\u002Fkg body weight; The route of administration will be intravenous infusion.",[13],"Genetic: FT024",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":20},"GENETIC","FT024","Autologous haematopoietic stem and progenitor cell population containing CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA and expanded ex vivo.",[9],null,[22],{"name":23,"role":24,"phone":25,"phoneExt":20,"email":26},"Francesca Tucci, Principal Incestigator","CONTACT","+390226439057","tucci.francesca@hsr.it",[28],{"facility":29,"status":30,"city":31,"state":32,"zip":33,"country":32,"countryCode":34,"cosmosGeoPoint":35,"geoPoint":40,"contacts":41},"Ospedale San Raffaele","RECRUITING","Milan","Italy","20132","IT",{"type":36,"coordinates":37},"Point",[38,39],12.59836,42.78235,{"lat":39,"lon":38},[42],{"name":43,"role":24,"phone":44,"phoneExt":20,"email":26},"Francesca Tucci, Principal Investigator","+39 02 26439057",{"type":46,"investigatorFullName":20,"investigatorTitle":20,"investigatorAffiliation":20,"oldNameTitle":20,"oldOrganization":20},"SPONSOR",[48],{"name":29,"class":6},"100644236","phase-1-gene-modified-stem-cell-therapy-for-children-with-autosomal-recessive-osteopetrosis-aro-100644236",false,"NCT07665021","Gene-Modified Stem Cell Therapy for Children With Autosomal Recessive Osteopetrosis (ARO)","A Phase I\u002FII Open Label Study to Assess Safety, Feasibility and Efficacy of ex Vivo Expanded, Autologous Haematopoietic Stem and Progenitor Cell Populations That Contain CD34+ Cells Transduced With a Lentiviral Vector Encoding the TCIRG1 cDNA in Children With Autosomal Recessive Osteopetrosis Caused by Mutations in the TCIRG1 Gene.","ARO","Inclusion Criteria:\n\n1. Diagnosis of autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene, defined by one of the following:\n\n   1. Clinical features of osteopetrosis and documented pathogenic\u002Flikely pathogenic biallelic variants (homozygosity or compound heterozygosity, whereby at least 1 allele must contain a known pathogenic mutation) in the TCIRG1 gene causing malignant infantile osteopetrosis.\n   2. If a patient presents with clinical features suggestive of severe osteopetrosis (i.e. generalized osteosclerosis, club-shaped long bones, skull base sclerosis, recurrent fractures and osteomyelitis, cranial nerve entrapment leading to visual and\u002For hearing loss, bone marrow insufficiency) and at least one pathogenic\u002Flikely pathogenic mutation of the TCIRG1 gene, the patient is eligible following discussion with an expert in this pathology.\n2. Patient's parents\u002Flegal guardians' capacity to understand the study goals, the study requirements (i.e., attending study visits, completing questionnaires, taking study medications), potential risks associated with joining a study, and willingness to provide verbal and written informed consent.\n3. Age: ≥ 28 days and ≤ 2 years old.\n4. Body weight: ≥ 4 kg.\n5. Adequate cardiac, pulmonary, renal and hepatic function as evidenced by:\n\n   1. Left ventricular ejection fraction (LVEF) ≥45% by echo and normal electrocardiogram (ECG) or presence of abnormalities not significant for cardiac disease. Absence of clinically significant heart valve disease.\n   2. Pulse oximetry ≥90% in room air and no evidence for parenchymal lung disease on chest X-ray or CT scan.\n   3. serum creatinine \\\u003C1.5x upper limit normal in the absence of any form of renal replacement therapy.\n   4. Alanine aminotransferase (ALT) and\u002For aspartate aminotransferase (AST) ≤2.5 x and total bilirubin ≤1.5x upper limit of normal (ULN). Normal coagulation tests (INR \\\u003C1.5).\n\nExclusion Criteria:\n\n1. Availability of a medically appropriate, logistically feasible, fully HLA-matched (10\u002F10) sibling or unrelated donor. The chances of finding a suitable, fully matched unrelated donor should be estimated through a preliminary donor bank search by an experienced transplant team. If the patient is judged unlikely to be treated with a fully matched allogeneic HSCT within 6 weeks from activating search procedures, he\u002Fshe can be considered eligible for this gene therapy study.\n\n   This criterion will not be applied to patients whose country of origin does not offer an allogeneic HSCT as a treatment option.\n2. History of uncontrolled seizures or severe psychiatric symptoms.\n3. Clinically relevant active viral, bacterial or fungal infection.\n4. Positivity for HIV (serology or RNA), and\u002For HbsAg and\u002For HBV DNA and\u002For HCV RNA and\u002For active infection for Treponema Pallidum or Mycoplasma.\n5. Known hypersensitivity to the drugs required for conditioning chemotherapy, or any excipients used in these products.\n6. Use of other investigational agents within 4 weeks prior to study enrolment (within 6 weeks if long-acting agents).\n7. Previous allogeneic HSCT or gene therapy with a different product.\n8. Patients affected by neoplasia, a familial predisposition to hematologic malignancies or any hematologic\u002Fcytogenetic alterations that may suggest a high risk of developing hematologic malignancies.\n9. Patients with end-organ damage or any other severe condition which, in the judgment of the investigator, would make the patient inappropriate for either HSPC collection or autologous transplant.","ALL","28 Days","2 Years",{"count":61,"type":62},8,"ESTIMATED","INTERVENTIONAL",[65,66],"PHASE1","PHASE2","This is a non-randomized, one-arm, open label, single-center, phase I\u002FII, prospective study, to assess safety, feasibility and efficacy of FT024 in 8 children (Age: ≥ 28 days and ≤ 2 years old, Body weight: ≥ 4 kg) affected by ARO-1.\n\nOnce written informed consent has been obtained, and subsequently screening procedures have been completed, harvesting of HSPCs will occur. FT024 manufacturing will occur within a designated GMP manufacturing facility. Following FT024 release, patients will be admitted to the clinical center for the receipt of a reduced toxicity conditioning regimen based on Treosulfan and Thiotepa and then, the infusion of the FT024. Thereafter, regular follow-up of patients will occur for up to 2 years (+720 days).\n\nIn case of partial hematological recovery, additional FT024 boost will be administered without conditioning within + 180 days post first FT024 infusion. At the +720-day visit, patients will be invited to participate in a long-term follow-up study, which will last for an additional 13 years.\n\nPatient recruitment is expected to take 3 years. The study will last approximately 5 years and 6 months, from the first visit of the first patient to the final visit of the last patient. Each patient will take part in the study for about 30 months, from screening to last follow up visit.",[69],"Osteopetrosis",[71],"autosomal recessive osteopetrosis caused by the mutations in TCRG1 gene","2026-06-18",{"date":74,"type":75},"2026-06-24","ACTUAL",{"date":77,"type":62},"2026-06-20",{"date":79,"type":62},"2031-06-30",{"name":5,"class":6},1]