ORPHA:645793
Spontaneous intestinal perforation
Also known as: FIP · Focal intestinal perforation · Isolated perforation · Neonatal focal intestinal perforation · SIP
Publications
1,677
Trials
0
Interventional, condition-specific
Researchers
1,244
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0957460
- UMLS:C3897004
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,677 matched papers (1,276 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 8 for broader category intestinal perforation
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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 2026-07-27
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?
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=3967) is 59.
1,677 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).
1,276 in the last 10 years · low confidence
Phrase hits: 1,677 · MeSH hits: 0
Who's working on it?
1,244
Distinct author names in 200 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.
- 01Göpel W7 papers · 2026
Department of Pediatrics, University Hospital of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 02Dantes G6 papers · 2026
Department of Surgery, Division of Pediatric Surgery, Emory University School of Medicine, Atlanta, Georgia, USA.
Papers in Europe PMC - 03Garg 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 - 04Härtel C6 papers · 2026
Department of Pediatrics, University of Würzburg, Würzburg, Germany.
Papers in Europe PMC - 05Bhatia 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 - 06Herting E5 papers · 2026
Department of Pediatrics, University Hospital of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 07Blakely 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 - 08Ehrhardt 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 - 09Fortmann I4 papers · 2026
Department of Pediatrics, University Hospital of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 10
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 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 9 September 2026 · last trial check 9 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.
8 interventional trials matched intestinal perforation, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: intestinal perforation
8
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
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 24 · after dedupe 24 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 24 · dropped 0 · fetched 2026-07-27
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).
Uncertain / not reviewed (24)
- isrctn·ISRCTN15681288·Recruiting·Restoring intestinal symbiosis for efficacy in IBS
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN10443084·Recruiting·A UK-wide study to find out which routine top-up feeds for extremely preterm babies when there is insufficient own mother’s milk, reduce the likelihood of necrotising enterocolitis and improve survival and brain development
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN96296121·Recruiting·IBD-RESPONSE – predicting treatment response in Crohn’s disease and ulcerative colitis
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN62501859·No longer recruiting·Withholding enteral feeds around packed red cell transfusion
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN81191607·No longer recruiting·A study looking at how effective and safe a very low dose of dexamethasone is in helping ventilator-dependent preterm babies who are at high risk of bronchopulmonary dysplasia (a serious lung condition that affects infants) get off the ventilator more quickly and effectively
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN04448562·No longer recruiting·Volume Guarantee or Volume-Controlled ventilation
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN66482337·No longer recruiting·Trial of lactoferrin for prevention of infections in very premature babies
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN84264977·No longer recruiting·Does selective early treatment of patent ductus arteriosus in extreme preterm infants reduce the complications and improve their long-term outcome?
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN16710849·No longer recruiting·The neoGASTRIC trial: Avoiding routine gastric residual volume measurement in neonatal critical care
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN01700960·No longer recruiting·Stoma or intestinal anastomosis for necrotising enterocolitis of the neonate
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN14384676·No longer recruiting·Early Diagnosis of Necrotising EnteroColitis: a prospective observational multicentre trial in neonates presenting with acute abdomen
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN39379437·Recruiting·A study of guselkumab versus risankizumab in participants with moderately to severely active Crohn's Disease
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN13463878·No longer recruiting·Clinical trial of zirconia bridges for back teeth
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN15911581·Recruiting·A Study of Icotrokinra in participants with moderately to severely active Crohn's disease
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN50484326·No longer recruiting·Exercise and analgesia for rehabilitation following hip fracture surgery
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN16939754·No longer recruiting·Dental sensitivity after applying cold saline water during endodontic treatment
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN80103507·No longer recruiting·A clinical trial to see if a mesenchymal stem cells treatment called ORBCEL-C™ can help to treat primary sclerosing cholangitis, rheumatoid arthritis, lupus nephritis and Crohn’s disease
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN12940165·No longer recruiting·Evaluation of non-instrumentation endodontic treatment in necrotic primary molars using a modified mixture of three antibiotics with simvastatin
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN10684113·No longer recruiting·Efficacy and safety of oral BT-11 in moderate to severe Crohn's disease
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN11093445·No longer recruiting·A clinical trial of antibody GSK1070806 in the treatment of patients with moderate to severe Crohn’s disease
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN89947480·No longer recruiting·PIPAC for peritoneal metastases of colorectal cancer
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN13184012·No longer recruiting·Prevention of hypothermia, in the immediate neonatal period, in infants with gestational age ≤28 weeks: a comparative study of the effectiveness of two models of polyethylene bags
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN17213748·No longer recruiting·Efficacy of DE-MRI-guided fibrosis ablation vs. conventional catheter ablation of atrial fibrillation
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN18282954·No longer recruiting·NET (Necrotising Enterocolitis Trial) - primary peritoneal drainage in necrotising enterocolitis: randomised controlled multi-centre trial
Uncertain — At least one provider returned uncertain or parent-category.
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 Spontaneous intestinal perforation — check Associations / patient organisations on that page.
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.
"Spontaneous intestinal perforation" OR "Focal intestinal perforation" OR "Isolated perforation" OR "Neonatal focal intestinal perforation"
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"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"intestinal perforation"
Query health: ok — strategies attempted: phrase; with hits: phrase
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
Ingested 2026-07-26T01:47:34.034Z