ORPHA:444490
Familial chylomicronemia syndrome
Publications
870
92.5th percentile
Trials
14
Interventional, condition-specific
Researchers
917
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018637
- UMLS:C5442313
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
870 matched papers (799 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
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=5449) is 41.
870 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
799 in the last 10 years · high confidence · 92.5th percentile (publications denominator)
Phrase hits: 870 · MeSH hits: 0
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.
- 01Hegele 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 - 02Gaudet 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 - 03Alexander 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 - 04Larouche 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 - 05Tsimikas 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 - 06Brisson 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 - 07Arca 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 - 08Ballantyne 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 - 09Nogueira JP7 papers · 2026
Investigador Adjunto del CONICET, Universidad Nacional de Formosa, Formosa, Argentina.
Papers in Europe PMC - 10Soran 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 27 July 2026
14 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.1th percentile).
high confidence · 93.1th 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.
- NCT07727538·RECRUITING·A Study of Olezarsen for the Treatment of Familial Chylomicronemia Syndrome (FCS) in Pediatric Participants
Conditions: Familial Chylomicronemia Syndrome·Matched via name phrase
- NCT07176923·RECRUITING·CS-121 APOC3 Base Editing in FCS
Conditions: Familial Chylomicronemia Syndrome (FCS)·Matched via name phrase
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.
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 2026-07-26This 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.
"Familial chylomicronemia syndrome"
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