Ignite Creation Date:
2025-12-25 @ 1:27 AM
Ignite Modification Date:
2025-12-25 @ 11:38 PM
Study NCT ID:
NCT07197294
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-09-29
First Post:
2025-07-23
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Personalized Antisense Oligonucleotide for a Single Participant With MAPK8IP3 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA)
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': '2025-02-24', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-07', 'completionDateStruct': {'date': '2027-02', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-09-22', 'studyFirstSubmitDate': '2025-07-23', 'studyFirstSubmitQcDate': '2025-09-22', 'lastUpdatePostDateStruct': {'date': '2025-09-29', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-09-29', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2027-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Communication', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in communication skills from baseline to 6-, 12-, 18-, and 24-months post nL-MAPK8-002 administration as measured by Observer-Reported Communication Ability (ORCA)'}, {'measure': 'Communication', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in communication skills from baseline to 12-, and 24-months post nL-MAPK8-002 administration as measured by Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4)'}, {'measure': 'Communication', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in communication skills from baseline to 12-, and 24-months post nL-MAPK8-002 administration as measured by Vineland Adaptive Behavior Scales - third Edition (Vineland-3)'}, {'measure': 'Swallow function', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in swallow function from baseline to 12-, and 24-months post nL-MAPK8-002 administration as measured by a formal swallow study changes in oral and pharyngeal phases.'}, {'measure': 'Swallow Function', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in swallow function from baseline to 12-, and 24-months post nL-MAPK8-002 administration as measured by Pediatric Functional Oral Intake Scale (pFOIS)'}, {'measure': 'Swallow Function', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in swallow function from baseline to 12-, and 24-months post nL-MAPK8-002 administration as measured by Eating and Drinking Ability Classification System for individuals with CP (EDACS)'}], 'primaryOutcomes': [{'measure': 'Motor Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Gross Motor Function Measure-88 score.'}, {'measure': 'Motor Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Gross Motor Function Classification Scale (GMFCS) score.'}, {'measure': 'Motor Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Manual Ability Classification Scale (MACS) level.'}, {'measure': 'Motor Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4) score.'}, {'measure': 'Motor Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 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-MAPK8-001 administration as measured by distance, velocity, acceleration, movement shape, and entropy of movement captured on wrist and ankle accelerometers.'}], 'secondaryOutcomes': [{'measure': 'Seizure Onset', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in presence of seizures from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by number of seizures recorded by EEG monitoring.'}, {'measure': 'Seizure Onset', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in presence of seizures from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by changes in caregiver reported seizure tracker.'}, {'measure': 'Respiratory Infections', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in frequency of treatment and hospitalizations for respiratory infection from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by changes in concomitant medications.'}, {'measure': 'Respiratory Infections', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in frequency of treatment and hospitalizations for respiratory infection from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by frequence of adverse events.'}, {'measure': 'Sleep Quality', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in sleep architecture from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured using an actigraphy device to monitor sleep duration.'}, {'measure': 'Quality of Life', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in quality of life from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by Caregiver Global Impression of Change questionnaire (CaGI-C)'}, {'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-MAPK8-001 administration'}, {'measure': 'Safety and Tolerability', 'timeFrame': 'Baseline to 24 months', 'description': 'Changes from baseline to 12- and 24-months post nL-MAPK8-001 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-MAPK8-001 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': '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)'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': True, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Neurodevelopmental Disorder With or Without Variable Brain Abnormalities']}, 'descriptionModule': {'briefSummary': 'This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous pathogenic missense mutation in MAPK8IP3', '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 NEDBA due to a heterozygous pathogenic missense mutation in MAPK8IP3'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['CHILD'], 'maximumAge': '5 Years', 'minimumAge': '5 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 neurodevelopmental disorder due to MAPK8IP3 mutation\n\nExclusion Criteria:\n\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."}, 'identificationModule': {'nctId': 'NCT07197294', 'briefTitle': 'Personalized Antisense Oligonucleotide for a Single Participant With MAPK8IP3 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA)', 'organization': {'class': 'OTHER', 'fullName': 'n-Lorem Foundation'}, 'officialTitle': 'An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA) Due to MAPK8IP3 Mutation', 'orgStudyIdInfo': {'id': 'AAAV6360'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Open Label', 'interventionNames': ['Drug: nL-MAPK8-001']}], 'interventions': [{'name': 'nL-MAPK8-001', 'type': 'DRUG', 'description': 'Personalized antisense oligonucleotide', 'armGroupLabels': ['Open Label']}]}, 'contactsLocationsModule': {'locations': [{'zip': '10032', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'Columbia University', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'n-Lorem Foundation', 'class': 'OTHER'}, 'collaborators': [{'name': 'Columbia University', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}