Current Congenital Diaphragmatic Hernia Studies

The following hospitals and organizations are actively conducting CDH research studies, each with their own specific guidelines. Families are welcome to participate in these studies at no cost, helping to advance medical knowledge and improve treatments and outcomes for CDH. Please contact the researchers directly for more information or to enroll.

1. CDH Natural History Research Registry – Led by CDH Research International, this global registry is fueled by patient input data that is de-identified and used in collaboration with universities and labs to research into possible causes and the best treatments of Congenital Diaphragmatic Hernia.   Learn more at https://cdhi.org/cdh-patient-registry/
2. Identifying Genes Which Cause CDH This study focuses on identifying genes causing CDH through blood work on family members, oral swabs, and involving grieving families. Principal Investigators: Patricia K. Donahoe, MD; Mauro Longoni, MD; Frances High, MD, PhD. Institution: Massachusetts General Hospital, Boston, Massachusetts. Contact: Phone: 617-355-8780; Email: CDHResearchStudy@childrens.harvard.edu.
3. Genetic Molecular Basis of Congenital Diaphragmatic Hernia (CDH) (DHREAMS Study) This research uncovers the genetic molecular basis of CDH. Institution: Columbia University Medical Center, New York, NY. Contact: Phone: 212-305-6987; Email: info@cdhgenetics.com.
4. Diaphragm: Development, CDH, and Evolution This study explores the development of the diaphragm, its association with CDH, and evolutionary aspects. Principal Investigator: Gabrielle Kardon. Institution: University of Utah, Salt Lake City, UT. Contact: Phone: 801-585-6184; Email: gkardon@genetics.utah.edu; Website: http://www.kardonlab.org/.
5. RESPIRE Program: Stem Cell Therapy for CDH Lungs This program investigates stem cell therapy for CDH lungs. Institution: The Hospital for Sick Children, Toronto, Canada. Contact: Peter Gilgan Centre for Research and Learning, 686 Bay Street, Toronto, ON M5G 0A4 (research inquiries only).
6. International CDH Patient Registry A comprehensive repository gathering patient information, family history, long-term development, and complications related to CDH; collaborates with other registries and universities. Institution: CDH International, Wake Forest, North Carolina. Website: www.cdhresearch.org.
7. CDH Study Group A collaborative effort to collect comprehensive data on CDH from various medical institutions; invites hospitals to participate. Institution: University of Texas, Houston.
8. Milrinone in Congenital Diaphragmatic Hernia (CDH) A double-blind randomized controlled pilot study examining the use of milrinone to support heart and lung function in infants with prenatal or postnatal CDH diagnosis. Institution: Duke University Department of Pediatrics, Durham, NC. Contact: Visit the Duke Neonatal Perinatal Research Unit website or ClinicalTrials.gov (NCT not specified in available details) for enrollment info.
9. Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic Hernia This pilot study evaluates FETO, a procedure placing a balloon in the fetal airway to promote lung growth before birth in severe CDH cases. Institution: Multiple sites, including UCSF Benioff Children’s Hospital, San Francisco, CA. NCT ID: NCT00881660. Status: Recruiting. Contact: Search ClinicalTrials.gov for current locations and contacts.
10. Children With Congenital Diaphragmatic Hernia and the Quality of Their Daily Lives A prospective study assessing health-related quality of life in children aged 5-18 with CDH, using surveys to understand long-term impacts. Institution: Not specified in details; single-center. NCT ID: NCT07432672. Status: Active, not recruiting (but may reopen). Contact: Refer to ClinicalTrials.gov for updates.
11. Efficacy of Inhaled Nitric Oxide in Congenital Diaphragmatic Hernia A multicenter prospective study evaluating inhaled nitric oxide (iNO) to improve oxygenation and outcomes in neonates with CDH. Institution: Not specified; multicenter. NCT ID: NCT07247240. Status: Not specified (check for updates). Contact: ClinicalTrials.gov for details.
12. Physiological-based Cord Clamping in Congenital Diaphragmatic Hernia This trial compares delayed cord clamping to standard practices to reduce hypoxia and improve cardiac output in newborns with CDH. Institution: Not specified. NCT ID: NCT04373902. Status: Active, not recruiting. Contact: ClinicalTrials.gov.
13. Fetal Endoscopic Tracheal Occlusion (FETO) for Severe Congenital Diaphragmatic Hernia (multiple ongoing trials) Several centers are running FETO trials to test this prenatal intervention for lung growth in severe CDH, with variations in phase and focus. Examples include:

• NCT05450653 (Recruiting, Chicago, IL)
• NCT05962346 (Recruiting, Rochester, MN)
• NCT05461222 (Recruiting, Stanford, CA)
• NCT04052828 (Recruiting, Ann Arbor, MI) Institutions: Various, including Mayo Clinic, Stanford, University of Michigan. Contact: Search specific NCT IDs on ClinicalTrials.gov for site-specific info.