ORPHA:217563
Neonatal acute respiratory distress syndrome due to SP-B deficiency
Also known as: Neonatal acute respiratory distress due to surfactant protein B deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
35
40.6th percentile
Trials
0
Interventional, condition-specific
Researchers
289
Distinct authors in sample
Gene link
SFTPB
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic interstitial lung disease characterized by and life-threatening refractory respiratory distress caused by surfactant deficiency which is particularly prevalent in immature lungs. It is primarily observed in preterm infants but can also affect full-term neonates. In most cases, it is fatal within the first months of life. Lung biopsy reveals changes that are characteristic of pulmonary alveolar proteinosis including interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009929
- MeSH:C566882
- OMIM:265120
- UMLS:C1968602
Additional Mondo synonyms (8)
SMDP1 · interstitial lung disease due to SP-B dysfunction · interstitial lung disease due to surfactant Protein B deficiency · neonatal acute respiratory distress due to SP-B deficiency · neonatal acute respiratory distress due to surfactant protein B deficiency · pulmonary alveolar proteinosis, congenital, 1 · surfactant metabolism dysfunction, pulmonary, 1 · surfactant metabolism dysfunction, pulmonary, type 1
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SFTPB
- LiteraturePresent
35 matched papers (25 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (SFTPB).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
35
35 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
35 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
25 in the last 10 years · high confidence · 40.6th percentile (publications denominator)
Phrase hits: 35 · MeSH hits: 0
Who's working on it?
289
Distinct author names in 35 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Nogee LM4 papers · 2017
Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: lnogee@jhmi.edu.
Papers in Europe PMC - 02Alcalay RN2 papers · 2025
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Papers in Europe PMC - 03Dominguez C2 papers · 2017
Centro de Investigación Biomédica en Red (CIBERER), Instituto de Salud Carlos III, Saragossa, Spain.
Papers in Europe PMC - 04Gan-Or Z2 papers · 2025
Montreal Neurological Institute, McGill University, Montréal, QC, Canada.
Papers in Europe PMC - 05Kingsmore S2 papers · 2012Papers in Europe PMC
- 06Li Y2 papers · 2023
Key Laboratory of Freshwater Fisheries and Germplasm Resources Utilization, Freshwater Fisheries Research Center, Ministry of Agriculture and Rural Affairs, Chinese Academy of Fishery Sciences, Wuxi 214081, China.
Papers in Europe PMC - 07Mallén M2 papers · 2017
Department of Biochemistry and Molecular and Cellular Biology, Faculty of Science, University of Zaragoza, C. Pedro Cerbuna 12, 50009, Saragossa, Spain.
Papers in Europe PMC - 08Rodriguez-Sureda V2 papers · 2017
Centro de Investigación Biomédica en Red (CIBERER), Instituto de Salud Carlos III, Saragossa, Spain.
Papers in Europe PMC - 09Wert SE2 papers · 2015
Perinatal Institute, Section of Neonatology, Perinatal and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA. susan.wert@cchmc.org
Papers in Europe PMC - 10Whitsett JA2 papers · 2015
Divisions of Neonatology, Perinatal Biology, and Pulmonary Biology, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; email: jeff.whitsett@cchmc.org , susan.wert@cchmc.org , tim.weaver@cchmc.org.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Neonatal acute respiratory distress syndrome due to SP-B deficiency" OR "Neonatal acute respiratory distress due to surfactant protein B deficiency" OR "SMDP1" OR "interstitial lung disease due to SP-B dysfunction" OR "interstitial lung disease due to surfactant Protein B deficiency" OR "neonatal acute respiratory distress due to SP-B deficiency" OR "pulmonary alveolar proteinosis, congenital, 1" OR "surfactant metabolism dysfunction, pulmonary, 1" OR "surfactant metabolism dysfunction, pulmonary, type 1"
MeSH descriptor terms unioned into the query: Surfactant Metabolism Dysfunction, Pulmonary, 1
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neonatal acute respiratory distress syndrome due to SP-B deficiency" OR "Neonatal acute respiratory distress due to surfactant protein B deficiency" OR "SMDP1" OR "interstitial lung disease due to SP-B dysfunction" OR "interstitial lung disease due to surfactant Protein B deficiency" OR "neonatal acute respiratory distress due to SP-B deficiency" OR "pulmonary alveolar proteinosis, congenital, 1" OR "surfactant metabolism dysfunction, pulmonary, 1" OR "surfactant metabolism dysfunction, pulmonary, type 1" OR "SFTPB"
Recall-expansion terms: SFTPB
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T09:51:40.734Z