Ignite Creation Date:
2025-12-25 @ 4:28 AM
Ignite Modification Date:
2026-03-01 @ 10:04 AM
Study NCT ID:
NCT02461420
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-02-17
First Post:
2015-05-11
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C536801', 'term': 'Telomeric 22q13 Monosomy Syndrome'}, {'id': 'D000067877', 'term': 'Autism Spectrum Disorder'}, {'id': 'D008607', 'term': 'Intellectual Disability'}], 'ancestors': [{'id': 'D002659', 'term': 'Child Development Disorders, Pervasive'}, {'id': 'D065886', 'term': 'Neurodevelopmental Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood draw for future correlative studies in the PMS Biorepository of the Developmental Synaptopathies Consortium'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 205}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2015-05'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-02', 'completionDateStruct': {'date': '2026-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-02-14', 'studyFirstSubmitDate': '2015-05-11', 'studyFirstSubmitQcDate': '2015-06-01', 'lastUpdatePostDateStruct': {'date': '2025-02-17', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2015-06-03', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Change in global cognitive ability at 12 months', 'timeFrame': '12 months', 'description': 'Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability'}, {'measure': 'Change in adaptive behavior at 12 months', 'timeFrame': '12 months', 'description': 'Using Vineland Adaptive Behavior Scales to measure adaptive behavior'}, {'measure': 'Change in language abilities at 12 months', 'timeFrame': '12 months', 'description': 'Using composite of Mullen Subscales, Vineland Subscales and Macarthur Bates Communication Developmental Inventory to measure language'}, {'measure': 'Change in motor functioning at 12 months', 'timeFrame': '12 months', 'description': 'Using composite of Mullen Subscales and Vineland Subscales to measure motor functioning'}, {'measure': 'Change in autism symptoms at 12 months', 'timeFrame': '12 months', 'description': 'Using composite of Autism Diagnostic Observation Schedule and Repetitive Behavior Scales-Revised to measure autism'}, {'measure': 'Change in global cognitive ability at 24 months', 'timeFrame': '24 months', 'description': 'Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability'}, {'measure': 'Change in adaptive behavior at 24 months', 'timeFrame': '24 months', 'description': 'Using Vineland Adaptive Behavior Scales to measure adaptive behavior'}, {'measure': 'Change is language abilities at 24 months', 'timeFrame': '24 months', 'description': 'Using composite of Mullen Subscales, Vineland Subscales and Macarthur Bates Communication Developmental Inventory to measure language'}, {'measure': 'Change in motor functioning at 24 months', 'timeFrame': '24 months', 'description': 'Using composite of Mullen Subscales and Vineland Subscales to measure motor functioning'}, {'measure': 'Change in autism symptoms at 24 months', 'timeFrame': '24 months', 'description': 'Using composite of Autism Diagnostic Observation Schedule and Repetitive Behavior Scales-Revised to measure autism'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['Phelan-McDermid Syndrome', 'PMS', 'Genotype', 'Phenotype', 'Natural History', 'Mapping', '22q13 Deletion Syndrome', 'SHANK3', 'Autism Spectrum Disorder', 'ASD', 'Intellectual Disability', 'ID', 'EEG'], 'conditions': ['Phelan-McDermid Syndrome', 'Autism Spectrum Disorder', 'Intellectual Disability']}, 'referencesModule': {'references': [{'pmid': '32107139', 'type': 'DERIVED', 'citation': 'Bassell J, Srivastava S, Prohl AK, Scherrer B, Kapur K, Filip-Dhima R, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Buxbaum JD, Kolevzon A, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 May;106:24-31. doi: 10.1016/j.pediatrneurol.2020.01.006. Epub 2020 Jan 31.'}, {'pmid': '30396833', 'type': 'DERIVED', 'citation': 'Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 Jan;90:37-43. doi: 10.1016/j.pediatrneurol.2018.09.008. Epub 2018 Sep 21.'}]}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.', 'detailedDescription': "Phelan-McDermid syndrome (PMS) or 22q13 Deletion syndrome, caused by a loss of one copy of the SHANK3 gene, is characterized by global developmental delay/intellectual disability, motor skills deficits, delayed or absent speech, and autism spectrum disorder. The goal of this study is to understand more about the PMS phenotype and the biological pathways associated with ID and ASD in the disorder, and to establish the foundation for future clinical trials in PMS and in other ID/ASD-associated disorders that share signaling pathways with PMS.\n\nIndividuals with PMS will be asked to participate in this study if they are 18 months or older with pathogenic deletions or mutations of the SHANK3 gene at time of enrollment, as well as healthy controls. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals' primary communicative language must be English. Parents and unaffected siblings may also be asked to consent to have blood drawn for analysis.\n\nThe study involves 3 on site visits over 2 years. Study visits involve a physical exam, medical history questions, blood work and neuropsychological assessments. A subset of participants between the ages of 2 and 11 years old will take part in the EEG portion of the study. Individuals who have a clinically indicated MRI will have an option to provide routine clinical scans for analysis."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Months', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '190 subjects with PMS will be enrolled across the 6 sites for this study', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Individuals older than 18 months of age with pathogenic deletions or mutations of the SHANK3 gene\n* English speaking individuals\n\nExclusion Criteria:\n\n* Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment\n* For subjects involved in imaging biomarker assessment: contraindications to 3T MRI scanning, such as metal implants/non-compatible medical devices or medical conditions, including vagus nerve stimulator\n* For subjects involved in EEG/ ERP biomarker assessment: contraindications to EEG/ERP, such as uncooperative or destructive behaviors preventing lead placement or capture by ERP/VEP equipment. Under age 2 or over age 11 at the time of enrollment.\n* Unwilling or unable to comply with study procedures and assessments'}, 'identificationModule': {'nctId': 'NCT02461420', 'briefTitle': 'Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome', 'organization': {'class': 'OTHER', 'fullName': "Boston Children's Hospital"}, 'officialTitle': 'Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome', 'orgStudyIdInfo': {'id': 'P00013300'}, 'secondaryIdInfos': [{'id': '1U54NS092090', 'link': 'https://reporter.nih.gov/quickSearch/1U54NS092090', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Phelan-McDermid Syndrome', 'description': 'Phelan-McDermid Syndrome'}]}, 'contactsLocationsModule': {'locations': [{'zip': '94305', 'city': 'Stanford', 'state': 'California', 'country': 'United States', 'facility': 'Stanford University', 'geoPoint': {'lat': 37.42411, 'lon': -122.16608}}, {'zip': '60612', 'city': 'Chicago', 'state': 'Illinois', 'country': 'United States', 'facility': 'Rush University Medical Center', 'geoPoint': {'lat': 41.85003, 'lon': -87.65005}}, {'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'country': 'United States', 'facility': 'National Institutes of Health', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}, {'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': "Boston Children's Hospital", 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '10029', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'Icahn School of Medicine at Mount Sinai', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}], 'overallOfficials': [{'name': 'Alexander Kolevzon, MD', 'role': 'STUDY_CHAIR', 'affiliation': 'Icahn School of Medicine at Mount Sinai'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Boston Children's Hospital", 'class': 'OTHER'}, 'collaborators': [{'name': 'National Institute of Neurological Disorders and Stroke (NINDS)', 'class': 'NIH'}, {'name': 'National Institutes of Health (NIH)', 'class': 'NIH'}, {'name': 'Office of Rare Diseases (ORD)', 'class': 'NIH'}, {'name': 'National Center for Advancing Translational Sciences (NCATS)', 'class': 'NIH'}, {'name': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)', 'class': 'NIH'}, {'name': 'Phelan-McDermid Syndrome Foundation', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor of Neurology, Harvard Medical School', 'investigatorFullName': 'Mustafa Sahin', 'investigatorAffiliation': "Boston Children's Hospital"}}}}