ORPHA:727925
Familial combined hypolipidemia
Also known as: Angiopoietin-like 3 deficiency
Publications
126
Trials
0
Interventional, condition-specific
Researchers
656
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
126 matched papers (88 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
126
126 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=5449) is 41.
126 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).
88 in the last 10 years · low confidence
Phrase hits: 126 · MeSH hits: 0
Who's working on it?
656
Distinct author names in 126 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.
- 01Arca M13 papers · 2025
Dipartimento di Medicina, Interna e Specialità Mediche Sapienza Università di Roma, Rome, Italy. marcelloarca@libero.it
Papers in Europe PMC - 02Minicocci I13 papers · 2025
Department of Translational and Precision Medicine, Policlinico Umberto I, Sapienza University of Rome, viale dell'Università n. 37, 00161 Rome, Italy.
Papers in Europe PMC - 03Hegele RA12 papers · 2024
Departments of Medicine and Biochemistry, and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A - 1151 Richmond Street North, London, ON N6A 5B7 Canada.
Papers in Europe PMC - 04D'Erasmo L7 papers · 2025
Department of Translational and Precision Medicine, Policlinico Umberto I, Sapienza University of Rome, viale dell'Università n. 37, 00161 Rome, Italy.
Papers in Europe PMC - 05Di Costanzo A7 papers · 2025
Department of Translational and Precision Medicine, Policlinico Umberto I, Sapienza University of Rome, viale dell'Università n. 37, 00161 Rome, Italy.
Papers in Europe PMC - 06Kathiresan S6 papers · 2018
Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA. skathiresan@partners.org
Papers in Europe PMC - 07Maranghi M6 papers · 2023
Departments of Internal Medicine and Medical Specialties, Sapienza University of Rome, Rome, Italy.
Papers in Europe PMC - 08Bini S5 papers · 2025
Department of Translational and Precision Medicine, Policlinico Umberto I, Sapienza University of Rome, viale dell'Università n. 37, 00161 Rome, Italy.
Papers in Europe PMC - 09Burnett JR5 papers · 2014
Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Australia.
Papers in Europe PMC - 10Ceci F5 papers · 2023
Cellular Biotechnologies and Hematology, Sapienza University of Rome, Rome, Italy.
Papers in Europe PMC
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 combined hypolipidemia" OR "Angiopoietin-like 3 deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial combined hypolipidemia" OR "Angiopoietin-like 3 deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T21:28:47.425Z