Ignite Creation Date:
2025-12-24 @ 5:50 PM
Ignite Modification Date:
2025-12-29 @ 2:25 AM
Study NCT ID:
NCT07197268
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-09-29
First Post:
2025-07-24
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Personalized Antisense Oligonucleotide Therapy for A Single Participant With ASXL3 Gene Mutation
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'phases': ['PHASE1', 'PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 1}}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2025-05-19', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-07', 'completionDateStruct': {'date': '2027-05', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-09-22', 'studyFirstSubmitDate': '2025-07-24', 'studyFirstSubmitQcDate': '2025-09-22', 'lastUpdatePostDateStruct': {'date': '2025-09-29', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-09-29', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2027-05', 'type': 'ESTIMATED'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Swallow Function', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in swallowing function from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by video fluoroscopic swallow study (VFSS)'}, {'measure': 'Swallow Function', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in swallowing function from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by modified barium swallow study (MBSS)'}, {'measure': 'Vision', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in vision from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by cortical vision impairment assessment'}, {'measure': 'Sleep', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in Sleep from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by parent-reported sleep diary'}, {'measure': 'Sleep', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in Sleep from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by Sleep Disturbances Scale for Children (SDSC)'}], 'primaryOutcomes': [{'measure': 'Safety and Tolerability', 'timeFrame': 'Baseline to 24 months', 'description': 'Incidence and severity of treatment-emergent adverse events (AEs) from baseline to 12- and 24-months post nL-ASXL3-001 administration'}, {'measure': 'Safety and Tolerability', 'timeFrame': 'Baseline to 24 months', 'description': 'Changes from baseline to 12- and 24-months post nL-ASXL3-001 administration in physical examination (changes in appearance, skin, neck, ears, nose, throat, heart/lungs, abdomen, lymph nodes, and extremities compared to baseline)'}, {'measure': 'Incidence of Treatment Emergent Abnormalities in Neurological Exam [Safety and Tolerability]', 'timeFrame': 'Baseline to 24 months', 'description': 'Changes from baseline to 12- and 24-months post nL-ASXL3-001 administration in neurological examination (changes in mental status, gait, cerebellar, cranial nerve, motor, reflex, and sensations compared to baseline)'}, {'measure': 'Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, urinalysis) [Safety and Tolerability]', 'timeFrame': 'Baseline to 24 months', 'description': 'Emergent abnormalities in laboratory analyses (results outside of normal range for CSF, chemistry, hematology, coagulation, and urinalysis)'}, {'measure': 'Motor Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in gross motor function from baseline to 12- and 24-months post nL-ASLX3-001 administration as measured by the Vineland Adaptive Behavior Scales - Third Edition (Vineland-3) score.'}, {'measure': 'Motor Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in gross motor function from baseline to 12- and 24-months post nL-ASXL-001 administration as measured by the Gross Motor Function Measure (GMFM 88/66)'}], 'secondaryOutcomes': [{'measure': 'Feeding Tolerance and Growth', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by body mass index (BMI).'}, {'measure': 'Feeding tolerance and growth', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by % oral feeding vs G tube reported by parent feeding diary'}, {'measure': 'Feeding tolerance and growth', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by Functional Oral Intake Score (FOIS)'}, {'measure': 'Feeding Tolerance and Growth', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by Bristol Stool Scale'}, {'measure': 'Cognition, Communication, and Behavior', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in communication from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Vineland Adaptive Behavior Scales - Third Edition (Vineland-3): growth scale values (GSVs) for Expressive Language and Receptive Language subdomains'}, {'measure': 'Cognition, Communication, and Behavior', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4): Expressive and Receptive Language Domains and Receptive Language Domains and Cognition Domain'}, {'measure': 'Cognition, Communication, and Behavior', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Observer-Related Communication Ability (ORCA) overall T score'}, {'measure': 'Cognition, Communication, and Behavior', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Aberrant Behavior Checklist (ABC)'}, {'measure': 'Cognition, Communication, and Behavior', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Repetitive Behavior Scale'}, {'measure': 'Quality of Life', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in quality of life from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by the Quality-of-Life Inventory - Disability (QI-Disability)'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': True, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Bainbridge-Ropers Syndrome']}, 'descriptionModule': {'briefSummary': 'This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Bainbridge-Ropers Syndrome (BRPS) due to a pathogenic, de novo nonsense variant in ASXL3', 'detailedDescription': '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 BRPS due to a pathogenic, de novo nonsense variant in ASXL3'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['CHILD'], 'maximumAge': '4 Years', 'minimumAge': '4 Years', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Informed consent/assent provided by the participant (when appropriate), and/or 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/or procedures and provide access to participant's medical records\n* Genetically confirmed ASXL3 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 stud procedures"}, 'identificationModule': {'nctId': 'NCT07197268', 'briefTitle': 'Personalized Antisense Oligonucleotide Therapy for A Single Participant With ASXL3 Gene Mutation', 'organization': {'class': 'OTHER', 'fullName': 'n-Lorem Foundation'}, 'officialTitle': 'An Open-Label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Bainbridge-Ropers Syndrome Due to ASXL3 Gene Variant', 'orgStudyIdInfo': {'id': '25-0542'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Open Label', 'interventionNames': ['Drug: nL-ASXL3-001']}], 'interventions': [{'name': 'nL-ASXL3-001', 'type': 'DRUG', 'description': 'Personalized antisense oligonucleotide', 'armGroupLabels': ['Open Label']}]}, 'contactsLocationsModule': {'locations': [{'zip': '27599', 'city': 'Chapel Hill', 'state': 'North Carolina', 'country': 'United States', 'facility': 'University of North Carolina Chapel Hill', 'geoPoint': {'lat': 35.9132, 'lon': -79.05584}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'n-Lorem Foundation', 'class': 'OTHER'}, 'collaborators': [{'name': 'University of North Carolina, Chapel Hill', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}