Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D065630', 'term': 'Hernias, Diaphragmatic, Congenital'}], 'ancestors': [{'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D006548', 'term': 'Hernia, Diaphragmatic'}, {'id': 'D000082122', 'term': 'Internal Hernia'}, {'id': 'D006547', 'term': 'Hernia'}, {'id': 'D020763', 'term': 'Pathological Conditions, Anatomical'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'whole blood, tissue, saliva'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 3000}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2005-06'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2026-09', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-08', 'studyFirstSubmitDate': '2009-07-29', 'studyFirstSubmitQcDate': '2009-07-30', 'lastUpdatePostDateStruct': {'date': '2025-12-12', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2009-07-31', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2026-09', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Percentage of patients with a genetic diagnosis', 'timeFrame': '5 years', 'description': 'DNA samples from patients will be analyzed for underlying genetic causes.'}], 'secondaryOutcomes': [{'measure': 'Developmental outcomes at 2 and 5 years of age', 'timeFrame': '1 exam at 2 year and 1 exam at 5 years', 'description': 'Formal Developmental outcome measures'}, {'measure': 'Percentage of patients with pulmonary hypertension', 'timeFrame': '5 years', 'description': 'pulmonary hypertension measured by echocardiogram'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Congenital Diaphragmatic Hernia (CDH)', 'Genes', 'Genetic', 'Genetic testing', 'exome sequencing', 'genome sequencing', 'RNAseq'], 'conditions': ['Congenital Diaphragmatic Hernia']}, 'referencesModule': {'references': [{'pmid': '25447988', 'type': 'BACKGROUND', 'citation': 'Wynn J, Yu L, Chung WK. Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014 Dec;19(6):324-30. doi: 10.1016/j.siny.2014.09.003. Epub 2014 Oct 28.'}, {'pmid': '24918983', 'type': 'BACKGROUND', 'citation': 'Pierog A, Aspelund G, Farkouh-Karoleski C, Wu M, Kriger J, Wynn J, Krishnan U, Mencin A. Predictors of low weight and tube feedings in children with congenital diaphragmatic hernia at 1 year of age. J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):527-30. doi: 10.1097/MPG.0000000000000454.'}, {'pmid': '24385578', 'type': 'BACKGROUND', 'citation': 'Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS; University of Washington Center for Mendelian Genomics; Mefford H, Chung WK. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet. 2014 Mar;51(3):197-202. doi: 10.1136/jmedgenet-2013-101989. Epub 2014 Jan 2.'}, {'pmid': '24094947', 'type': 'BACKGROUND', 'citation': 'Wynn J, Aspelund G, Zygmunt A, Stolar CJ, Mychaliska G, Butcher J, Lim FY, Gratton T, Potoka D, Brennan K, Azarow K, Jackson B, Needelman H, Crombleholme T, Zhang Y, Duong J, Arkovitz MS, Chung WK, Farkouh C. Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study. J Pediatr Surg. 2013 Oct;48(10):1995-2004. doi: 10.1016/j.jpedsurg.2013.02.041.'}, {'pmid': '23375362', 'type': 'BACKGROUND', 'citation': 'Wynn J, Krishnan U, Aspelund G, Zhang Y, Duong J, Stolar CJ, Hahn E, Pietsch J, Chung D, Moore D, Austin E, Mychaliska G, Gajarski R, Foong YL, Michelfelder E, Potolka D, Bucher B, Warner B, Grady M, Azarow K, Fletcher SE, Kutty S, Delaney J, Crombleholme T, Rosenzweig E, Chung W, Arkovitz MS. Outcomes of congenital diaphragmatic hernia in the modern era of management. J Pediatr. 2013 Jul;163(1):114-9.e1. doi: 10.1016/j.jpeds.2012.12.036. Epub 2013 Jan 30.'}, {'pmid': '23138528', 'type': 'BACKGROUND', 'citation': 'Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, Stolar C, Aspelund G, Arkovitz MS, Chung WK. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet. 2013 Mar;132(3):285-92. doi: 10.1007/s00439-012-1249-0. Epub 2012 Nov 9.'}, {'pmid': '23054247', 'type': 'BACKGROUND', 'citation': 'Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK. De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135.'}, {'pmid': '26034137', 'type': 'BACKGROUND', 'citation': 'Yu L, Sawle AD, Wynn J, Aspelund G, Stolar CJ, Arkovitz MS, Potoka D, Azarow KS, Mychaliska GB, Shen Y, Chung WK. Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia. Hum Mol Genet. 2015 Aug 15;24(16):4764-73. doi: 10.1093/hmg/ddv196. Epub 2015 Jun 1.'}, {'pmid': '25783379', 'type': 'BACKGROUND', 'citation': 'Azarow KS, Cusick R, Wynn J, Chung W, Mychaliska GB, Crombleholme TM, Chung DH, Lim FY, Potoka D, Warner BW, Aspelund G, Arkovitz MS. The association between congenital diaphragmatic hernia and undescended testes. J Pediatr Surg. 2015 May;50(5):744-5. doi: 10.1016/j.jpedsurg.2015.02.025. Epub 2015 Feb 19.'}, {'pmid': '28768736', 'type': 'BACKGROUND', 'citation': 'Kardon G, Ackerman KG, McCulley DJ, Shen Y, Wynn J, Shang L, Bogenschutz E, Sun X, Chung WK. Congenital diaphragmatic hernias: from genes to mechanisms to therapies. Dis Model Mech. 2017 Aug 1;10(8):955-970. doi: 10.1242/dmm.028365.'}, {'pmid': '28592524', 'type': 'BACKGROUND', 'citation': 'Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7.'}, {'pmid': '28303347', 'type': 'BACKGROUND', 'citation': 'Longoni M, High FA, Qi H, Joy MP, Hila R, Coletti CM, Wynn J, Loscertales M, Shan L, Bult CJ, Wilson JM, Shen Y, Chung WK, Donahoe PK. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Hum Genet. 2017 Jun;136(6):679-691. doi: 10.1007/s00439-017-1774-y. Epub 2017 Mar 16.'}, {'pmid': '28162765', 'type': 'BACKGROUND', 'citation': 'Chiu JS, Ma L, Wynn J, Krishnan U, Rosenzweig EB, Aspelund G, Arkovitz M, Warner BW, Lim FY, Mychaliska GB, Azarow K, Cusick RA, Chung DH, Chung WK. Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia. J Pediatr Surg. 2017 Nov;52(11):1747-1750. doi: 10.1016/j.jpedsurg.2017.01.007. Epub 2017 Jan 26.'}, {'pmid': '28130958', 'type': 'BACKGROUND', 'citation': 'Farkouh-Karoleski C, Najaf T, Wynn J, Aspelund G, Chung WK, Stolar CJ, Mychaliska GB, Warner BW, Wagner AJ, Cusick RA, Lim FY, Schindel DT, Potoka D, Azarow K, Cotten CM, Hesketh A, Soffer S, Crombleholme T, Needelman H. A definition of gentle ventilation in congenital diaphragmatic hernia: a survey of neonatologists and pediatric surgeons. J Perinat Med. 2017 Dec 20;45(9):1031-1038. doi: 10.1515/jpm-2016-0271.'}, {'pmid': '31677822', 'type': 'BACKGROUND', 'citation': 'Abramov A, Fan W, Hernan R, Zenilman AL, Wynn J, Aspelund G, Khlevner J, Krishnan U, Lim FY, Mychaliska GB, Warner BW, Cusick R, Crombleholme T, Chung D, Danko ME, Wagner AJ, Azarow K, Schindel D, Potoka D, Soffer S, Fisher J, McCulley D, Farkouh-Karoleski C, Chung WK, Duron V. Comparative outcomes of right versus left congenital diaphragmatic hernia: A multicenter analysis. J Pediatr Surg. 2020 Jan;55(1):33-38. doi: 10.1016/j.jpedsurg.2019.09.046. Epub 2019 Oct 26.'}, {'pmid': '32719394', 'type': 'BACKGROUND', 'citation': 'Qiao L, Wynn J, Yu L, Hernan R, Zhou X, Duron V, Aspelund G, Farkouh-Karoleski C, Zygumunt A, Krishnan US, Nees S, Khlevner J, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, Soffer S, Schindel D, McCulley DJ, Shen Y, Chung WK. Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes. Genet Med. 2020 Dec;22(12):2020-2028. doi: 10.1038/s41436-020-0908-0. Epub 2020 Jul 28.'}, {'pmid': '31443905', 'type': 'BACKGROUND', 'citation': 'Yu L, Hernan RR, Wynn J, Chung WK. The influence of genetics in congenital diaphragmatic hernia. Semin Perinatol. 2020 Feb;44(1):151169. doi: 10.1053/j.semperi.2019.07.008. Epub 2019 Aug 1.'}], 'seeAlsoLinks': [{'url': 'http://www.cdhgenetics.com', 'label': 'Study Website'}]}, 'descriptionModule': {'briefSummary': 'The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of molecular pathogenesis and, ultimately, prevention or treatment of congenital diaphragmatic hernia. There are many different possible modes of inheritance for congenital anomalies, including autosomal dominant, autosomal recessive, and multifactorial. Multi-factorial inheritance is responsible for many common medical disorders, including hypertension, myocardial infarction, diabetes and cancer. This type of inheritance pattern appears to involve environmental factors as well as a combination of genetic variations that together can predispose to or produce congenital anomalies, such as congenital diaphragmatic hernia.\n\nOur study is designed to establish a small, well-defined genetic resource consisting of 1) Nuclear families suitable for linkage analysis by parametric,non-parametric (e.g. sib pairs, TDT) and association techniques, 2) Individuals with congenital diaphragmatic hernia who can be directly screened for allelic variation in candidate genes, and 3) Individuals who can serve as controls (are unaffected by congenital diaphragmatic hernia). Neonates and their families will be collected from homogenous and heterogeneous populations. By characterizing diverse populations, it should be possible to increase the likelihood of demonstration of genetic variation in selected candidate genes that can then be used in association and linkage studies in individual subjects with congenital diaphragmatic hernia.', 'detailedDescription': 'Congenital diaphragmatic hernia (CDH) is a birth defect that occurs when the diaphragm (thin sheet of muscle that separates the abdomen from the chest) does not form properly. When an opening is present in the diaphragm, organs that are normally in the abdomen can be pushed (herniated) through the opening and be present in the chest. Currently little is known about why this birth defect occurs.\n\nThrough this study ""Molecular Genetic Analysis of Congenital Diaphragmatic Hernia" the investigators hope to learn more about whether certain genes contribute to CDH. Genes are the instructions or blueprints for our bodies. They tell our bodies how to grow and develop. Sometimes when a mistake occurs in one or more of our genes our body does not develop properly and this can lead to a CDH. The investigators hope that the information gained through studying the genes of children with CDH and their parents, will lead to significant advances in the diagnosis, prognosis, prevention, and treatment of this disease.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Children/neonates with an unrepaired congenital diaphragmatic hernia\n\nChildren/neonates with a reparied congenital diaphragmatic hernia\n\nWomen who are pregnant with a fetus diagnosed with congenital diaphragmatic hernia\n\nIndividuals with a family history of congenital diaphragmatic hernia', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of a CDH\n\nExclusion Criteria:\n\n* Individuals with no personal history of a CDH or family history of a family member affected with congenital diaphragmatic hernia'}, 'identificationModule': {'nctId': 'NCT00950118', 'acronym': 'DHREAMS', 'briefTitle': 'Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science', 'organization': {'class': 'OTHER', 'fullName': 'Columbia University'}, 'officialTitle': 'Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science', 'orgStudyIdInfo': {'id': 'AAAB2063'}, 'secondaryIdInfos': [{'id': 'R01HD057036', 'link': 'https://reporter.nih.gov/quickSearch/R01HD057036', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Congenital Diaphragmatic Hernia (CDH)', 'description': 'Humans affected with congenital diaphragmatic hernia (CDH)'}, {'label': 'Unaffected', 'description': 'Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)'}]}, 'contactsLocationsModule': {'locations': [{'zip': '60612', 'city': 'Chicago', 'state': 'Illinois', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Mindy Li, MD', 'role': 'CONTACT'}, {'name': 'Alexa Hart, MS, CGC', 'role': 'CONTACT'}], 'facility': 'Rush Hospital', 'geoPoint': {'lat': 41.85003, 'lon': -87.65005}}, {'zip': '48167-5245', 'city': 'Ann Arbor', 'state': 'Michigan', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'George Mychalisa, MD, MS', 'role': 'CONTACT', 'email': 'mychalis@med.umich.edu', 'phone': '734-763-2072'}, {'name': 'Jeannie Kreutzman, RN, MSN', 'role': 'CONTACT', 'email': 'jkreutzm@med.umich.edu', 'phone': '734-763-2072'}, {'name': 'George Mychalisa, MD, MS', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "University of Michigan/ CS Mott Children's Hospital", 'geoPoint': {'lat': 42.27756, 'lon': -83.74088}}, {'zip': '63110', 'city': 'St Louis', 'state': 'Missouri', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Jessica Conway', 'role': 'CONTACT', 'email': 'jessicaconway@wustl.edu'}, {'name': 'Brad Warner, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Washington University Medical Center/ St. Louis Children's Hospital", 'geoPoint': {'lat': 38.62727, 'lon': -90.19789}}, {'zip': '68114', 'city': 'Omaha', 'state': 'Nebraska', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Sheila Horak, APRN', 'role': 'CONTACT', 'email': 'shorak@childrensomaha.org'}, {'name': 'Brad Warner, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Children's Hospital of Omaha/ University of Nebraska", 'geoPoint': {'lat': 41.25626, 'lon': -95.94043}}, {'zip': '11030', 'city': 'Manhasset', 'state': 'New York', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Samuel Soffer, MD', 'role': 'CONTACT', 'email': 'ssoffer@nhsh.edu'}, {'name': 'Samuel Soffer, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Northwell Health', 'geoPoint': {'lat': 40.79788, 'lon': -73.69957}}, {'zip': '10016', 'city': 'New York', 'state': 'New York', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Barbara Coons', 'role': 'CONTACT', 'email': 'Barbara.Coons@nyulangone.org'}, {'name': 'Jason Fisher, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "New York University, Hassenfeld Children's Hospital at NYU Langone Health", 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '10032', 'city': 'New York', 'state': 'New York', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Anah Kim Hetzler', 'role': 'CONTACT', 'email': 'ak3578@columbia.edu', 'phone': '212-342-4622'}, {'name': 'Yufeng Shen, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)", 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '45229', 'city': 'Cincinnati', 'state': 'Ohio', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Trish Burns, BSN', 'role': 'CONTACT', 'email': 'trish.burns@cchmc.org', 'phone': '513-803-0745'}, {'name': 'Foong Yen Lim, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Cincinnati Children's Hospital and Medical Center/ University of Cincinnati", 'geoPoint': {'lat': 39.12711, 'lon': -84.51439}}, {'zip': '97239', 'city': 'Portland', 'state': 'Oregon', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Andrew Mason', 'role': 'CONTACT', 'email': 'masoned@ohsu.edu'}, {'name': 'Elizabeth Fialkowski, MD', 'role': 'CONTACT', 'email': 'fialkows@ohsu.edu'}], 'facility': "Oregon Health & Science University, Doernbecher Children's Hospital", 'geoPoint': {'lat': 45.52345, 'lon': -122.67621}}, {'zip': '15213', 'city': 'Pittsburgh', 'state': 'Pennsylvania', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Min Shi, BSN', 'role': 'CONTACT', 'email': 'shim@upmc.edu', 'phone': '412-692-7440'}, {'name': 'Paul Waltz, MD', 'role': 'CONTACT', 'email': 'waltzpk2@upmc.edu'}, {'name': 'Paul Waltz, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Children's Hospital of Pittsburgh/ University of Pittsburgh", 'geoPoint': {'lat': 40.44062, 'lon': -79.99589}}, {'zip': '37232', 'city': 'Nashville', 'state': 'Tennessee', 'status': 'COMPLETED', 'country': 'United States', 'facility': "Monroe Carrell Jr Children's Hospital at Vanderbilt", 'geoPoint': {'lat': 36.16589, 'lon': -86.78444}}, {'zip': '75235', 'city': 'Dallas', 'state': 'Texas', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'David Schindel, MD', 'role': 'CONTACT', 'email': 'David.Schindel@childrens.com', 'phone': '214-456-6040'}], 'facility': "UT Southwestern Medical Center, Children's Health, Dallas", 'geoPoint': {'lat': 32.78306, 'lon': -96.80667}}, {'zip': '53226', 'city': 'Milwaukee', 'state': 'Wisconsin', 'status': 'COMPLETED', 'country': 'United States', 'facility': 'Medical College of Wisconsin', 'geoPoint': {'lat': 43.0389, 'lon': -87.90647}}, {'city': 'Cairo', 'status': 'RECRUITING', 'country': 'Egypt', 'contacts': [{'name': 'Mahmoud Elfiky, MD', 'role': 'CONTACT', 'email': 'drmelfiky@gmail.com', 'phone': '201001557755'}, {'name': 'Mahmoud Elfiky, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Cairo University Hospital', 'geoPoint': {'lat': 30.06263, 'lon': 31.24967}}], 'centralContacts': [{'name': 'Anah Kim Hetzler', 'role': 'CONTACT', 'email': 'ak3578@columbia.edu'}], 'overallOfficials': [{'name': 'Yufeng Shen, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Columbia University'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Columbia University', 'class': 'OTHER'}, 'collaborators': [{'name': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)', 'class': 'NIH'}, {'name': 'National Institutes of Health (NIH)', 'class': 'NIH'}], 'responsibleParty': {'type': 'SPONSOR'}}}}