Ignite Creation Date:
2025-12-24 @ 10:55 PM
Ignite Modification Date:
2026-02-21 @ 8:30 AM
Study NCT ID:
NCT02602769
Status:
RECRUITING
Last Update Posted:
2025-10-21
First Post:
2015-11-07
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D063766', 'term': 'Pediatric Obesity'}, {'id': 'D009767', 'term': 'Obesity, Morbid'}, {'id': 'D007027', 'term': 'Hypothalamic Diseases'}, {'id': 'D054969', 'term': 'Primary Dysautonomias'}], 'ancestors': [{'id': 'D009765', 'term': 'Obesity'}, {'id': 'D050177', 'term': 'Overweight'}, {'id': 'D044343', 'term': 'Overnutrition'}, {'id': 'D009748', 'term': 'Nutrition Disorders'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D001835', 'term': 'Body Weight'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D001342', 'term': 'Autonomic Nervous System Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D059467', 'term': 'Transcriptome'}], 'ancestors': [{'id': 'D014158', 'term': 'Transcription, Genetic'}, {'id': 'D001669', 'term': 'Biochemical Phenomena'}, {'id': 'D055598', 'term': 'Chemical Phenomena'}, {'id': 'D015870', 'term': 'Gene Expression'}, {'id': 'D055614', 'term': 'Genetic Phenomena'}, {'id': 'D040342', 'term': 'Genetic Structures'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'The investigators will retain blood samples for future measurement of hormones involved in regulation of weight, appetite and satiety.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 12}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2015-11'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-10', 'completionDateStruct': {'date': '2026-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-10-20', 'studyFirstSubmitDate': '2015-11-07', 'studyFirstSubmitQcDate': '2015-11-09', 'lastUpdatePostDateStruct': {'date': '2025-10-21', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2015-11-11', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2026-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Changes in the transcriptome profile of hypothalamic cells of children with ROHHAD syndrome compared to their unaffected first degree relatives.', 'timeFrame': '2 year', 'description': 'The investigators will perform whole transcriptome profiling of iPSC-derived hypothalamic neurons and compare the whole genome sequencing to identify the changes that may give rise to the disease.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Hypoventilation syndrome', 'Hypothalamic dysfunction', 'Autonomic dysregulation', 'Rapid onsey obesity'], 'conditions': ['Childhood Obesity', 'Morbid Obesity']}, 'referencesModule': {'references': [{'pmid': '25781356', 'type': 'RESULT', 'citation': 'Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May;100(5):1723-30. doi: 10.1210/jc.2014-4215. Epub 2015 Mar 17.'}]}, 'descriptionModule': {'briefSummary': 'Rapid onset Obesity, Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) is a syndrome named in 2007. The hallmark of the syndrome is the rapid onset obesity and dysregulation of central ventilation. There is little information about the metabolic changes that lead to the rapid onset obesity in these children. The investigators would like to study the metabolic phenotype of these children to understand the disturbances in energy balance that lead to the rapid onset obesity.', 'detailedDescription': 'Late-onset hypoventilation syndrome with hypothalamic dysfunction was first described in 1965 and renamed to ROHHAD syndrome in 2007 by Ize-Ludlow et al.\n\nThe hallmark of ROHHAD syndrome is rapid-onset obesity starting at approximately 1.5 years of age with weight gain of 12-20 kg/year, central hypoventilation distinct from the obstructive hypoventilation caused by obesity, hyperphagia, a spectrum of pituitary hormonal dysfunction, and autonomic disturbances including temperature, blood pressure, and nociception abnormalities. Some children have been noted with developmental and behavioral abnormalities. Tumors of neural crest origin have been identified in 25-33% of the patients. The etiology of ROHHAD syndrome and the cause of rapid onset obesity is unknown.\n\nThe aims of this study are to understand the whole transcriptome profiling of patient specific induced pluripotent cell (iPSC) derived hypothalamic neurons to understand the transcriptional level changes that give rise to the manifestations seen in ROHHAD syndrome.\n\nAim 1. Generate patient specific iPSC-derived hypothalamic neurons from children with ROHHAD syndrome and their unaffected first degree relatives.\n\nAim 2: Compare the whole transcriptome profiling of the patient derived cells compared to those of unaffected relatives and reference datasets to understand the differences in transcriptome that gives rise to ROHHAD syndrome.\n\nAim 3: Selected patients may be invited to participate for detailed metabolic phenotyping to understand the mechanisms of excessive weight gain.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '20 Years', 'minimumAge': '2 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Children diagnosed with ROHHAD (Rapid onset Obesity, Hypoventilation, Hypothalamic dysfunction, Autonomic Disturbances), and their first degree relatives.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Children with ROHHAD syndrome\n\nExclusion Criteria:\n\n* Children with known genetic causes of obesity'}, 'identificationModule': {'nctId': 'NCT02602769', 'briefTitle': 'Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'Columbia University'}, 'officialTitle': 'Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome', 'orgStudyIdInfo': {'id': 'AAAS4650'}, 'secondaryIdInfos': [{'id': 'P00018387', 'type': 'OTHER', 'domain': "Boston Children's Hospital"}, {'id': 'R21DK129893', 'link': 'https://reporter.nih.gov/quickSearch/R21DK129893', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Cases of ROHHAD syndrome', 'description': 'Children diagnosed with ROHHAD syndrome during the course of their clinical care by their physicians.\n\nThe investigators will perform transcriptome profiling in this group.', 'interventionNames': ['Diagnostic Test: Transcriptome profiling']}, {'label': 'Control cohort', 'description': 'Unaffected first degree family members. The investigators will perform transcriptome profiling in this group.', 'interventionNames': ['Diagnostic Test: Transcriptome profiling']}], 'interventions': [{'name': 'Transcriptome profiling', 'type': 'DIAGNOSTIC_TEST', 'description': 'The investigators will obtain blood to extract peripheral mononuclear cells. These cells will be used to generate patient specific hypothalamic cells that will be used for transcriptome profiling.', 'armGroupLabels': ['Cases of ROHHAD syndrome', 'Control cohort']}]}, 'contactsLocationsModule': {'locations': [{'zip': '02115', 'city': 'Boston', 'state': 'New York', 'status': 'COMPLETED', 'country': 'United States', 'facility': "Boston Children's Hospital", 'geoPoint': {'lat': 42.62895, 'lon': -78.73753}}, {'zip': '10032', 'city': 'New York', 'state': 'New York', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Vidhu Thaker, MD', 'role': 'CONTACT', 'email': 'vvt2114@cumc.columbia.edu', 'phone': '212-851-5315'}], 'facility': 'Columbia University Irving Medical Center', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}], 'centralContacts': [{'name': 'Vidhu Thaker, MD', 'role': 'CONTACT', 'email': 'vvt2114@cumc.columbia.edu', 'phone': '2128515315'}], 'overallOfficials': [{'name': 'Vidhu Thaker, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Columbia University'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Columbia University', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)', 'class': 'NIH'}, {'name': 'ROHHAD Association', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Assistant Professor', 'investigatorFullName': 'Vidhu V. Thaker', 'investigatorAffiliation': 'Columbia University'}}}}