[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100609502":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":21,"centralContacts":29,"locations":35,"responsibleParty":52,"collaborators":20,"id":56,"slug":57,"hasResults":58,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":20,"eligibilityCriteria":62,"healthyVolunteers":58,"sex":63,"minAge":64,"maxAge":65,"enrollmentInfo":66,"targetDuration":20,"studyType":69,"phases":70,"briefSummary":73,"conditions":74,"keywords":76,"overallStatus":37,"whyStopped":20,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":91},{"fullName":5,"class":6},"Boston Children's Hospital","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Phase 1\u002F2 Study of Antisense Oligonucleotide Therapy for Treatment of Ataxia - Telangiectasia","EXPERIMENTAL","Individuals with genetically confirmed, classic ataxia telangiectasia with at least one copy of the ASO-amenable ATM variant NM\\_000051.3:c.7865C\\>T;p.Ala2622Val, will receive the ASO at the same dose.",[13],"Drug: Antisense oligonucleotide targeting the ATM gene",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":20},"DRUG","Antisense oligonucleotide targeting the ATM gene","Atipeksen is a fully modified PS-2'MOE splice-switching antisense oligonucleotide that is designed to restore normal splicing patterns in patients with the ATM c.7865C\\>T mutation.",[9],null,[22,26],{"name":23,"affiliation":24,"role":25},"Timothy Yu, MD, PhD","Boston Childrens Hostpital","STUDY_DIRECTOR",{"name":27,"affiliation":5,"role":28},"Christelle Achkar, MD","PRINCIPAL_INVESTIGATOR",[30],{"name":31,"role":32,"phone":33,"phoneExt":20,"email":34},"Arya Newington","CONTACT","617-919-7499","Arya.Newingham@childrens.harvard.edu",[36],{"facility":5,"status":37,"city":38,"state":39,"zip":40,"country":41,"countryCode":42,"cosmosGeoPoint":43,"geoPoint":48,"contacts":49},"RECRUITING","Boston","Massachusetts","02115","United States","US",{"type":44,"coordinates":45},"Point",[46,47],-71.05977,42.35843,{"lat":47,"lon":46},[50],{"name":31,"role":32,"phone":33,"phoneExt":20,"email":51},"arya.newington@childrens.harvard.edu",{"type":53,"investigatorFullName":54,"investigatorTitle":55,"investigatorAffiliation":5,"oldNameTitle":20,"oldOrganization":20},"SPONSOR_INVESTIGATOR","Timothy Yu","Physician, Department of Genetics and Genomics, Boston Children's Hospital, Associate Professor, Harvard Medical School Associate Member, Broad Institute","100609502","phase-1-safety-and-efficacy-of-mutation-targeted-precision-genetic-therapy-for-ataxia-telangiectasia-a-t-100609502",false,"NCT07215416","Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)","A Phase 1\u002F2 Study of Antisense Oligonucleotide Therapy for Treatment of Ataxia-Telangiectasia","INCLUSION\u002FEXCLUSION CRITERIA:\n\nWho can take part:\n\n* People with classic A-T confirmed by genetic testing\n* Must have a specific ATM gene change (c.7865C\\>T)\n* Must also have another ATM change that causes A-T\n\nWho cannot take part:\n\nPeople with health problems that make lumbar puncture unsafe:\n\n* Blood clotting or bleeding problems\n* Brain conditions raising pressure inside the head\n* Serious heart or breathing problems\n* Infection near the lower back\n\nOther things doctors will check:\n\n* Overall health and stability\n* Any medicines that might cause problems\n* Past difficulties with lumbar punctures\n* Any other safety concerns","ALL","0 Years","17 Years",{"count":67,"type":68},10,"ESTIMATED","INTERVENTIONAL",[71,72],"PHASE1","PHASE2","This project aims to evaluate the safety and efficacy of precision genetic therapy for patients with Ataxia-telangiectasia (A-T), a rare neurodegenerative disease caused by mutations in the ATM gene. The investigators will conduct a clinical trial to study the safety and efficacy of intrathecal administration of atipeksen, a targeted genetic therapy that restores ATM gene function in A-T individuals bearing the recurrent ATM c.7865C\\>T variant. The aim of this study is to delay or forestall progression of neurologic symptoms in A-T and improving quality of life. Success will provide an empirical foundation for advancing additional precision genetic therapies for A-T and other neurodegenerative conditions.",[75],"Ataxia Telangiectasia",[75,77,78,79,80,81],"A-T","ASO","Intrathecal administration","ATM","ATIPEKSEN","2026-05-26",{"date":84,"type":85},"2026-05-28","ACTUAL",{"date":87,"type":68},"2026-08",{"date":89,"type":68},"2036-12",{"name":54,"class":6},1]