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ORPHA:444490

Familial chylomicronemia syndrome

high confidenceDisorder

Publications

870

86.5th percentile

Trials

14

Interventional, condition-specific

Researchers

917

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, , eruptive xanthomas, lipemia retinalis and . Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

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.”

4/6 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

    870 matched papers (799 in last 10 years) Source

  3. Phenotype characterisedPresent

    68 HPO annotations (e.g. Precocious atherosclerosis; Decreased circulating HDL-C concentration; Decreased circulating LDL-C concentration) Source

  4. Animal modelPresent

    5 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    14 matched on ClinicalTrials.gov (2 recruiting in sample)

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)

68

Associated phenotypes · MONDO:0018637

  • Precocious atherosclerosis
  • Decreased circulating HDL-C concentration
  • Decreased circulating LDL-C concentration
  • Premature coronary artery atherosclerosis
  • Increased circulating chylomicron concentration

Showing 5 of 68 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

Model associations linked to this Mondo ID

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

5

Drugs / clinical candidates · MONDO_0018637

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

870

870 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.

870 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).

799 in the last 10 years · high confidence · 86.5th percentile (publications denominator)

Phrase hits: 870 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

917

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
    Hegele RA22 papers · 2026

    Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address: hegele@robarts.ca.

    Papers in Europe PMC
  2. 02
    Gaudet D21 papers · 2026

    Lipidology Unit, Community Genomic Medicine Center, Department of Medicine, Université de Montréal and ECOGENE-21 Clinical Research Center, Chicoutimi, QC, Canada. daniel.gaudet@umontreal.ca.

    Papers in Europe PMC
  3. 03
    Alexander VJ12 papers · 2026

    Ionis Pharmaceuticals, 2855 Gazelle Court, Carlsbad, CA 92010, USA (Drs Veronica J. Alexander; Lynnetta Watts; Shuting Xia; Sotirios Tsimikas).

    Papers in Europe PMC
  4. 04
    Larouche M12 papers · 2026

    Lipidology Unit, Community Genomic Medicine Center, Department of Medicine, Université de Montréal and ECOGENE-21 Clinical Research Center, Chicoutimi, QC, Canada.

    Papers in Europe PMC
  5. 05
    Tsimikas S12 papers · 2026

    Department of Medicine, University of California San Diego, Room 1081, 9500 Gilman Drive, La Jolla, CA 92093 USA (Drs Joseph L. Witztum; Sotirios Tsimikas); Ionis Pharmaceuticals, 2855 Gazelle Court, Carlsbad, CA 92010, USA (Drs Veronica J. Alexander; Lynnetta Watts; Shuting Xia; Sotirios Tsimikas).

    Papers in Europe PMC
  6. 06
    Brisson D11 papers · 2026

    Lipidology Unit, Community Genomic Medicine Center, Department of Medicine, Université de Montréal and ECOGENE-21 Clinical Research Center, Chicoutimi, QC, Canada.

    Papers in Europe PMC
  7. 07
    Arca M8 papers · 2026

    Department of Translational and Precision Medicine, Viale Università, La Sapienza University of Rome, 37 - 00185, Rome, Italy (Dr Marcello Arca).

    Papers in Europe PMC
  8. 08
    Ballantyne CM7 papers · 2026

    Department of Medicine, Baylor College of Medicine, Houston, TX, USA (Drs Saadatagah, Nambi, and Ballantyne). Electronic address: cmb@bcm.edu.

    Papers in Europe PMC
  9. 09
    Nogueira JP7 papers · 2026

    Investigador Adjunto del CONICET, Universidad Nacional de Formosa, Formosa, Argentina.

    Papers in Europe PMC
  10. 10
    Soran H7 papers · 2026

    Manchester Royal Infirmary, Manchester University NHS Foundation Trust, Oxford Rd, Manchester M13 9WL, United Kingdom (Dr Handrean Soran).

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).

high confidence · 93.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 4 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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).

Uncertain / not reviewed (3)

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 Familial chylomicronemia syndrome — 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.

"Familial chylomicronemia syndrome"

Run this search on Europe PMC

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

"Familial chylomicronemia syndrome"

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: 14 interventional · 2 observational · 2 expanded access. Only interventional studies enter the trial headline.

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 2026-07-27T16:29:54.959Z