[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT06369974":3,"trial-entities:NCT06369974":88,"trial-summary:NCT06369974":92},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":26,"primary_purpose":27,"phases":28,"enrollment_info":31,"interventions":34,"primary_outcomes":43,"secondary_outcomes":48,"sex":54,"minimum_age":55,"maximum_age":56,"healthy_volunteers":15,"eligibility_criteria":57,"std_ages":68,"locations":72,"central_contacts":81,"overall_officials":82,"references":86,"see_also_links":87},"NCT06369974","2024P000386","Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy","An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy","ENROLLING_BY_INVITATION","2026-06","2026-02","2026-03-02","2024-09-18","Massachusetts General Hospital","OTHER",false,"This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.","This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single pediatric participant with a de novo pathogenic gain of function TUBB4A mutation associated with severe leukodystrophy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)",[19],"Genetic Disease",[21,22,23,24,25],"leukodystrophy","antisense oligonucleotide","TUBB4A-related leukodystrophy","Hypomyelination","ASO","INTERVENTIONAL","TREATMENT",[29,30],"PHASE1","PHASE2",{"count":32,"type":33},1,"ESTIMATED",[35],{"type":36,"name":37,"description":38,"armGroupLabels":39,"otherNames":41},"DRUG","Antisense oligonucleotide treatment (ASO)","Drug: nL-TUBB4-001; Personalized antisense oligonucleotide",[40],"Intervention",[42],"nL-TUBB4-001",[44],{"measure":45,"description":46,"timeFrame":47},"Neurological assessments","Change from baseline at 24 months post nL-TUBB4-001 administration in scores on the GMFM88, HINE-1, HINE-2, Bayley-4, and Vineland-3 developmental assessment scales, as well as the Tardieu Spasticity Scale and PedsQL Family Impact Module","Baseline to 24 months",[49,52],{"measure":50,"description":51,"timeFrame":47},"Feeding and swallow evaluation","Change from baseline at 24 months post nL-TUBB4-001 administration in assessment of feeding and swallow evaluation.",{"measure":53,"description":53,"timeFrame":47},"Safety and tolerability","ALL","4 Years",null,{"inclusion":58,"exclusion":63,"raw_text":67},[59,60,61,62],"Informed consent\u002Fassent provided by the participant (when appropriate), and\u002For participant's parent(s) or legally authorized representative(s).","Ability to travel to the study site and adhere to study-related follow-up examinations and\u002For procedures and provide access to participant's medical records.","Clinical phenotype and neuroimaging consistent with a diagnosis of TUBB4A-related leukodystrophy\u002FHypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)","Documented genetic mutation in TUBB4A",[64,65,66],"Participant has any known contraindication to or unwillingness to undergo lumbar puncture","Use of investigational medication within 5 half-lives of the drug at enrolment","Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.","Inclusion Criteria:\n\n* Informed consent\u002Fassent provided by the participant (when appropriate), and\u002For participant's parent(s) or legally authorized representative(s).\n* Ability to travel to the study site and adhere to study-related follow-up examinations and\u002For procedures and provide access to participant's medical records.\n* Clinical phenotype and neuroimaging consistent with a diagnosis of TUBB4A-related leukodystrophy\u002FHypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)\n* Documented genetic mutation in TUBB4A\n\nExclusion Criteria:\n\n* Participant has any known contraindication to or unwillingness to undergo lumbar puncture\n* Use of investigational medication within 5 half-lives of the drug at enrolment\n* Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.",[69,70,71],"CHILD","ADULT","OLDER_ADULT",[73],{"facility":13,"city":74,"state":75,"zip":76,"country":77,"geoPoint":78},"Boston","Massachusetts","02114","United States",{"lat":79,"lon":80},42.35843,-71.05977,[],[83],{"name":84,"affiliation":13,"role":85},"Florian Eichler, MD","PRINCIPAL_INVESTIGATOR",[],[],{"nct_id":4,"conditions":89,"biomarkers":90},[24,23],[91],"TUBB4A Gene",{"nct_id":4,"found":15,"summary":56,"prompt_version":56}]