[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT07226297":3,"trial-entities:NCT07226297":97,"trial-summary:NCT07226297":101},{"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":21,"primary_purpose":22,"phases":23,"enrollment_info":26,"interventions":29,"primary_outcomes":36,"secondary_outcomes":49,"sex":68,"minimum_age":69,"maximum_age":70,"healthy_volunteers":71,"eligibility_criteria":72,"std_ages":79,"locations":83,"central_contacts":93,"overall_officials":94,"references":95,"see_also_links":96},"NCT07226297","HSC-MS-25-0625","Personalized Antisense Oligonucleotide for A Single Participant With GARS1 Gene Mutation Associated With Charcot-Marie-Tooth Disease Type 2D (CMT2D)","An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Charcot-Marie-Tooth Type 2D Due to GARS1 Genetic Mutation","ENROLLING_BY_INVITATION","2027-10","2025-10","2025-11-10","2025-10-27","n-Lorem Foundation","OTHER",true,"This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Charcot-Marie-Tooth disease type 2D (CMT2D) due to a pathogenic, de novo deletion mutation in GARS1","This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single participant with CMT2D due to a pathogenic, de novo deletion mutation in GARS1",[19],"Charcot-Marie-Tooth Disease Type 2D",[],"INTERVENTIONAL","TREATMENT",[24,25],"PHASE1","PHASE2",{"count":27,"type":28},1,"ESTIMATED",[30],{"type":31,"name":32,"description":33,"armGroupLabels":34},"DRUG","nL-GARS1-001","Personalized antisense oligonucleotide",[35],"Open Label",[37,41,43,45,47],{"measure":38,"description":39,"timeFrame":40},"Motor Skills","Change in fine motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change in the Nine-Hole Peg Test (9-HPT)","Baseline to 24 months",{"measure":38,"description":42,"timeFrame":40},"Change in fine motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change in the Box and Block Test (BBT)",{"measure":38,"description":44,"timeFrame":40},"Change in gross motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change on Revised Upper Limb Module (RULM)",{"measure":38,"description":46,"timeFrame":40},"Change in gross motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change on Hammersmith Functional Motor Scale - Expanded (HFMSE)",{"measure":38,"description":48,"timeFrame":40},"Change in gross motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change on home videography assessment",[50,53,56,59,62,65],{"measure":51,"description":52,"timeFrame":40},"Quality of Life","Change in quality of life from baseline to 6-, 12-, 18- and 24-months post nL-GARS1-001 administration as measured by the Pediatric Quality of Life Inventory (PedsQL)",{"measure":54,"description":55,"timeFrame":40},"Functional Skills","Change in functional skills from baseline to 6-, 12-, 18- and 24-months post nL-GARS1-001 administration as measured by the Pediatric Evaluation of Disability Inventory - Computer Adaptive Test (PEDI-CAT)",{"measure":57,"description":58,"timeFrame":40},"Safety and Tolerability","Incidence and severity of treatment-emergent adverse events (AEs) post nL-GARS1-001 administration",{"measure":60,"description":61,"timeFrame":40},"Incidence of Treatment-Emergent Abnormalities in Physical Exam [Safety and Tolerability]","Changes post nL-GARS1-001 administration in physical examination (changes in appearance, skin, neck, ears, nose, throat, heart\u002Flungs, abdomen, lymph nodes, and extremities compared to baseline)",{"measure":63,"description":64,"timeFrame":40},"Incidence of Treatment-Emergent Abnormalities in Neurological Exam [Safety and Tolerability]","Changes post nL-GARS1-001 administration in neurological examination (changes in mental status, gait, cerebellar, cranial nerve, motor, reflex, and sensations compared to baseline as assessed by treating physician)",{"measure":66,"description":67,"timeFrame":40},"Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]","Emergent abnormalities in laboratory analyses (results outside of normal range for CSF, chemistry, hematology, coagulation, and urinalysis)","FEMALE","13 Years",null,false,{"inclusion":73,"exclusion":76,"raw_text":78},[74,75],"Informed consent\u002Fassent provided by the participant (when appropriate), and\u002For the 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.",[77],"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 the 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\nGenetically confirmed GARS1 genetic variant\n\nExclusion Criteria:\n\n* Participant has any condition that, in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.",[80,81,82],"CHILD","ADULT","OLDER_ADULT",[84],{"facility":85,"city":86,"state":87,"zip":88,"country":89,"geoPoint":90},"UTHealth Houston","Houston","Texas","77030","United States",{"lat":91,"lon":92},29.76328,-95.36327,[],[],[],[],{"nct_id":4,"conditions":98,"biomarkers":99},[19],[100],"GARS1 Gene",{"nct_id":4,"found":71,"summary":70,"prompt_version":70}]