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ORPHA:104076

Leiomyosarcoma of small intestine

high confidenceDisorder

Publications

401

60.4th percentile

Trials

4

Interventional, condition-specific

Researchers

1,111

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

leiomyosarcoma of small bowel · leiomyosarcoma of small intestine · leiomyosarcoma of the small bowel · leiomyosarcoma of the small intestine · small bowel leiomyosarcoma · small intestinal leiomyosarcoma · small intestine leiomyosarcoma

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    401 matched papers (127 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 trialPresent

    4 matched on ClinicalTrials.gov

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 2026-07-29

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?

401

401 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=3967) is 59.

401 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).

127 in the last 10 years · high confidence · 60.4th percentile (publications denominator)

Phrase hits: 401 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,111

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
    Ali RM2 papers · 2025

    Scientific Affairs Department, Smart Health Tower, Madam Mitterrand Street, Sulaymaniyah 46001, Iraq.

    Papers in Europe PMC
  2. 02
    Ali S2 papers · 2009
    Papers in Europe PMC
  3. 03
    Liu Y2 papers · 2026

    Shenzhen Hospital, National Cancer Center, National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 518116, Shenzhen, China.

    Papers in Europe PMC
  4. 04
    Vandecaveye V2 papers · 2025

    Department of Radiology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium

    Papers in Europe PMC
  5. 05
    Watanabe M2 papers · 2019

    Department of Surgery, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.

    Papers in Europe PMC
  6. 06
    Yamashita K2 papers · 2019

    Atsushi Kohga, Akihiro Kawabe, Yuto Hasegawa, Kiyoshige Yajima, Takuya Okumura, Kimihiro Yamashita, Jun Isogaki, Kenji Suzuki, Division of Surgery, Fujinomiya City General Hospital, Fujinomiya, Shizuoka 4180076, Japan.

    Papers in Europe PMC
  7. 07
    Abbasciano V1 paper · 1995

    Istituto di Medicina Interna II, Università degli Studi di Ferrara.

    Papers in Europe PMC
  8. 08
    Abbasi M1 paper · 2022

    Internal Medicine, Advocate Aurora Health/Advocate Illinois Masonic Medical Center, Chicago, Illinois, USA.

    Papers in Europe PMC
  9. 09
    Abdullah HO1 paper · 2025

    Scientific Affairs Department, Smart Health Tower, Madam Mitterrand Street, Sulaymaniyah 46001, Iraq.

    Papers in Europe PMC
  10. 10
    Abeysekera KWM1 paper · 2019

    Gastroenterology Department, Musgrove Park Hospital, Parkfield Drive, Taunton, Somerset, TA1 5DA, UK. k.abeysekera@bristol.ac.uk.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting. 136 trials are registered for leiomyosarcoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

high confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: leiomyosarcoma

136

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.

Recruiting under the broader category

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 Leiomyosarcoma of small intestine — 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.

"Leiomyosarcoma of small intestine" OR "Leiomyosarcoma of the small intestine" OR "leiomyosarcoma of small bowel" OR "leiomyosarcoma of the small bowel" OR "small bowel leiomyosarcoma" OR "small intestinal leiomyosarcoma" OR "small intestine leiomyosarcoma"

Run this search on Europe PMC

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

"Leiomyosarcoma of small intestine" OR "Leiomyosarcoma of the small intestine" OR "leiomyosarcoma of small bowel" OR "leiomyosarcoma of the small bowel" OR "small bowel leiomyosarcoma" OR "small intestinal leiomyosarcoma" OR "small intestine leiomyosarcoma"

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: 4 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"leiomyosarcoma"

Query health: ok — strategies attempted: phrase; 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 2026-07-27T07:24:21.736Z