Ignite Creation Date:
2025-12-25 @ 2:12 AM
Ignite Modification Date:
2025-12-26 @ 12:40 AM
Study NCT ID:
NCT07221760
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-10-28
First Post:
2025-10-24
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Personalized Antisense Oligonucleotide for A Single Participant (nL62541) With ATN1 Gene Mutation
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D020191', 'term': 'Myoclonic Epilepsies, Progressive'}], 'ancestors': [{'id': 'D004831', 'term': 'Epilepsies, Myoclonic'}, {'id': 'D004829', 'term': 'Epilepsy, Generalized'}, {'id': 'D004827', 'term': 'Epilepsy'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000073376', 'term': 'Epileptic Syndromes'}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE1', 'PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1}}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-11', 'type': 'ESTIMATED'}, 'statusVerifiedDate': '2025-10', 'completionDateStruct': {'date': '2027-11', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-10-27', 'studyFirstSubmitDate': '2025-10-24', 'studyFirstSubmitQcDate': '2025-10-27', 'lastUpdatePostDateStruct': {'date': '2025-10-28', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-10-28', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2027-11', 'type': 'ESTIMATED'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Developmental Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in developmental skills from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Developmental Profile 4 (DP-4) (physical, adaptive behavior, social-emotional, cognitive, and communication scores)'}, {'measure': 'Developmental Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in developmental skills from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Bayley Scales of Infant Development 4 (BSID-4) (cognition, communication, motor, and adaptive behavior scores)'}, {'measure': 'Developmental Skills', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in developmental skills from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Observer Reported Communication Ability (ORCA)'}, {'measure': 'Ataxia', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in ataxia from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Scale for Assessment and Rating of Ataxia (SARA)'}, {'measure': 'Brain Changes', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in brain MRIs from baseline to 12- and 24- months post nL-ATN1-002 administration as measured by ventricular size on brain MRI'}], 'primaryOutcomes': [{'measure': 'Seizures', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by routine electroencephalography (EEG) (changes in frequency of ictal and interictal discharges, evoked potentials, and changes in EEG background)'}, {'measure': 'Seizures', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by seizure tracking (changes in number and length of seizures)'}, {'measure': 'Seizures', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in seizure frequency and seizure medication use from baseline to every 3 months post nL-ATN1-002 administration as measured by seizure tracking (reported with seizure dates and use of seizure medication)'}], 'secondaryOutcomes': [{'measure': 'Quality of Life and Caregiver Burden', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in quality of life and caregiver burden from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD)'}, {'measure': 'Quality of Life and Caregiver Burden', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in quality of life and caregiver burden from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Caregiver Global Impression of Change Questionnaire (CaGL-C)'}, {'measure': 'Health Status', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in comorbities from baseline to 6-, 12-, 18-, and 24-months post nL-ARN1-002 administration as measured by the Caregiver Priorities - Comorbidities and Health Evaluation Checklist (CPCHECKlist)'}, {'measure': 'Dysphagia', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in swallow function and number of aspiration pneumonias (PNAs) from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by Modified Barium Swallow Study (MBSS)'}, {'measure': 'Dysphagia', 'timeFrame': 'Baseline to 24 months', 'description': 'Change in swallow function and number of aspiration pneumonias (PNAs) from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by adverse events of aspiration PNAs'}, {'measure': 'Incidence and Severity of Treatment Emergent Adverse Events [Safety and Tolerability]', 'timeFrame': 'Baseline to 24 months'}, {'measure': 'Incidence of Treatment-Emergent Abnormalities in Physical and Neurological Exams [Safety and Tolerability]', 'timeFrame': 'Baseline to 24 months'}, {'measure': 'Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]', 'timeFrame': 'Baseline to 24 months'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': True, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Dentatorubral-Pallidoluysian Atrophy']}, 'descriptionModule': {'briefSummary': 'This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1', '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 DRPLA due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '22 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 Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 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': 'NCT07221760', 'briefTitle': 'Personalized Antisense Oligonucleotide for A Single Participant (nL62541) With ATN1 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 Dentatorubral-pallidoluysian Atrophy (DRPLA) Due to ATN1 Mutation', 'orgStudyIdInfo': {'id': 'STUDY00007386'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Open Label', 'interventionNames': ['Drug: nL-ATN1-001']}], 'interventions': [{'name': 'nL-ATN1-001', 'type': 'DRUG', 'description': 'Personalized Antisense Oligonucleotide', 'armGroupLabels': ['Open Label']}]}, 'contactsLocationsModule': {'locations': [{'zip': '78723', 'city': 'Austin', 'state': 'Texas', 'country': 'United States', 'facility': "Dell Children's", 'geoPoint': {'lat': 30.26715, 'lon': -97.74306}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'n-Lorem Foundation', 'class': 'OTHER'}, 'collaborators': [{'name': "Dell Children's Medical Center of Central Texas", 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}