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ORPHA:217563

Neonatal acute respiratory distress syndrome due to SP-B deficiency

low confidenceDisorder

Also known as: Neonatal acute respiratory distress due to surfactant protein B deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,095

Trials

0

Interventional, condition-specific

Researchers

289

Distinct authors in sample

Gene link

SFTPB

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — SFTPB

  2. LiteraturePresent

    2,095 matched papers (1,587 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Intraalveolar phospholipid accumulation; Ground-glass opacification; Dyspnea) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

26

Associated phenotypes · MONDO:0009929

  • Intraalveolar phospholipid accumulation
  • Ground-glass opacification
  • Dyspnea
  • Desquamative interstitial pneumonitis
  • Pulmonary arterial hypertension

Showing 5 of 26 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,095

2,095 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,095 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,587 in the last 10 years · low confidence

Phrase hits: 35 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Nogee 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
  2. 02
    Alcalay RN2 papers · 2025

    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.

    Papers in Europe PMC
  3. 03
    Dominguez C2 papers · 2017

    Centro de Investigación Biomédica en Red (CIBERER), Instituto de Salud Carlos III, Saragossa, Spain.

    Papers in Europe PMC
  4. 04
    Gan-Or Z2 papers · 2025

    Montreal Neurological Institute, McGill University, Montréal, QC, Canada.

    Papers in Europe PMC
  5. 05
    Kingsmore S2 papers · 2012
    Papers in Europe PMC
  6. 06
    Li 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
  7. 07
    Mallén 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
  8. 08
    Rodriguez-Sureda V2 papers · 2017

    Centro de Investigación Biomédica en Red (CIBERER), Instituto de Salud Carlos III, Saragossa, Spain.

    Papers in Europe PMC
  9. 09
    Wert 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
  10. 10
    Whitsett 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Neonatal acute respiratory distress syndrome due to SP-B deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Surfactant Metabolism Dysfunction, Pulmonary, 1") OR ("SFTPB" OR "SFTPB syndrome" OR "SFTPB-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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
  • Publication count (2095) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:51:40.734Z