Why some newborns develop fatal lung problems
Etiology and pathogenesis of lethal lung developmental disorders in neonates
['FUNDING_R01'] · BAYLOR COLLEGE OF MEDICINE · NIH-11128589
Researchers are uncovering genetic and molecular reasons that cause severe lung underdevelopment in newborns to help families get clearer diagnoses and guide future treatments.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BAYLOR COLLEGE OF MEDICINE (nih funded) |
| Locations | 1 site (HOUSTON, UNITED STATES) |
| Trial ID | NIH-11128589 on ClinicalTrials.gov |
What this research studies
This project studies babies who suffer progressive neonatal low oxygen and severe pulmonary arterial hypertension from lethal lung developmental disorders by looking for DNA changes and regulatory elements that drive disease. Investigators sequence and analyze genes known to be involved (including FOXF1, TBX4, and FGF10), search for copy-number deletions and non-coding enhancer variants, and examine parental origin of those changes. They combine patient tissues, clinical records, and laboratory experiments (including mobility-shift and other functional assays) to link specific genetic alterations to the lung pathology. The work aims to explain why some infants develop alveolar capillary dysplasia, acinar dysplasia, congenital alveolar dysplasia, or related pulmonary hypoplasias.
Who could benefit from this research
Good fit: Ideal candidates are newborns or infants with unexplained severe pulmonary hypoplasia, progressive neonatal hypoxia, or diagnosed/suspected ACDMPV, acinar dysplasia, or congenital alveolar dysplasia, and their parents for genetic testing.
Not a fit: Patients whose lung problems are caused by infection, prematurity-related respiratory immaturity, or unrelated chronic lung conditions are unlikely to benefit directly from this genetics-focused work.
Why it matters
Potential benefit: If successful, this research could enable earlier and more precise genetic diagnosis, better family counseling, and point toward targeted treatments for affected newborns.
How similar studies have performed: Previous studies have already linked FOXF1, TBX4, and FGF10 to many cases of these disorders, so this work builds on established gene findings while exploring less-understood regulatory regions.
Where this research is happening
HOUSTON, UNITED STATES
- BAYLOR COLLEGE OF MEDICINE — HOUSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: STANKIEWICZ, PAWEL — BAYLOR COLLEGE OF MEDICINE
- Study coordinator: STANKIEWICZ, PAWEL
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.