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ORPHA:645793

Spontaneous intestinal perforation

low confidence

Also known as: FIP · Focal intestinal perforation · Isolated perforation · Neonatal focal intestinal perforation · SIP

Clinical definition (Orphanet)

A rare intestinal disease characterized by a single, focal intestinal perforation, associated with hemorrhagic necrosis, typically occurring at the terminal ileum, involving antimesenteric border. It may also occur in the jejunum or colon. It predominantly affects very (or extremely) low weight infants (birth weight less than 1500 g) mostly in the first week of life. Patients have healthy bowel apart from the perforation site, they present with bluish discoloration and gasless abdomen in the absence of pneumatosis intestinalis. Urinary tract infection can also be present. However they do not manifest necrotizing enterocolitis, bowel obstruction or prodromal clinical symptoms.

Orphanet entry

Is anyone studying this?

1,677

1,677 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=183) is 38.

1,677 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).

1,276 in the last 10 years · low confidence

Is a treatment being tested?

34

trials for this specific condition

34 interventional trials matched this specific condition name; 6 currently recruiting in our sample. 8 trials are registered for intestinal perforation, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 26 July 2026

8

trials for intestinal perforation, the broader category this belongs to

Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.

34 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 93.9th percentile).

low confidence · 93.9th percentile (trials denominator)

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Who's working on it?

1,244

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Göpel W7 papers · 2026

    Department of Pediatrics, University Hospital of Lübeck, Lübeck, Germany.

    Papers in Europe PMC
  2. 02
    Dantes G6 papers · 2026

    Department of Surgery, Division of Pediatric Surgery, Emory University School of Medicine, Atlanta, Georgia, USA.

    Papers in Europe PMC
  3. 03
    Garg PM6 papers · 2026

    Department of Pediatrics/Neonatology, Atrium Health Wake Forest Baptist, Wake Forest School of Medicine, Winston Salem, NC, USA. gargparvesh@hotmail.com.

    Papers in Europe PMC
  4. 04
    Härtel C6 papers · 2026

    Department of Pediatrics, University of Würzburg, Würzburg, Germany.

    Papers in Europe PMC
  5. 05
    Bhatia AM5 papers · 2026

    Division of Pediatric Surgery, Department of Surgery, Emory University School of Medicine, Children's Healthcare of Atlanta, Atlanta, GA, USA.

    Papers in Europe PMC
  6. 06
    Herting E5 papers · 2026

    Department of Pediatrics, University Hospital of Lübeck, Lübeck, Germany.

    Papers in Europe PMC
  7. 07
    Blakely ML4 papers · 2026

    University of Texas Health Science Center at Houston, Center for Clinical Research and Evidence-Based Medicine; University of Texas Health Science Center at Houston, Department of Surgery; Vanderbilt University Medical Center, Department of Pediatric Surgery; University of Texas Health Science Center at Houston, Institute for Implementation Science. Electronic address: Martin.l.blakely@uth.tmc.edu.

    Papers in Europe PMC
  8. 08
    Ehrhardt H4 papers · 2026

    Division of Neonatology and Pediatric Intensive Care Medicine, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany harald.ehrhardt@charite.de.

    Papers in Europe PMC
  9. 09
    Fortmann I4 papers · 2026

    Department of Pediatrics, University Hospital of Lübeck, Lübeck, Germany.

    Papers in Europe PMC
  10. 10
    Griffin R4 papers · 2026

    Department of Epidemiology, UAB, Birmingham, AL, USA.

    Papers in Europe PMC

Recruiting interventional trials

Trials testing a treatment from the matched ClinicalTrials.gov set

34 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

16 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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 below but are not added to the query string.

"Spontaneous intestinal perforation" OR "Focal intestinal perforation" OR "Isolated perforation" OR "Neonatal focal intestinal perforation"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Spontaneous intestinal perforation" OR "Focal intestinal perforation" OR "Isolated perforation" OR "Neonatal focal intestinal perforation" OR "intestinal disorder"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 34 interventional · 16 observational · 0 expanded access. Only interventional studies enter the trial headline.

Cross-references (from Mondo): UMLS:C3897004

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FIP; SIP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1677) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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