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ORPHA:650

LCAT deficiency

low confidenceDisorder

Also known as: Lecithin-cholesterol acyltransferase deficiency

Publications

9,053

Trials

1

Interventional, condition-specific

Researchers

1,159

Distinct authors in sample

Gene link

DTHD1, LCAT

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

lecithin-cholesterol acyltransferase deficiency

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — DTHD1, LCAT

  2. LiteraturePresent

    9,053 matched papers (4,359 in last 10 years) Source

  3. Phenotype characterisedPresent

    35 HPO annotations (e.g. Hypertriglyceridemia; Decreased circulating HDL-C concentration; Renal insufficiency) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. recombinant human apolipoprotein A-I Source

  6. Interventional trialPresent

    1 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?

Yes — we know a specific gene responsible (DTHD1, LCAT).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

35

Associated phenotypes · MONDO:0018999

  • Hypertriglyceridemia
  • Decreased circulating HDL-C concentration
  • Renal insufficiency
  • Hemolytic anemia
  • Atherosclerosis

Showing 5 of 35 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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)

2

Designations · no FDA orphan-indication approval yet

  • EMA recombinant human apolipoprotein A-ITreatment of lecithin-cholesterol acyltransferase deficiency · 20/08/2021 · PositiveEMA designation
  • EMA recombinant human lecithin cholesterol acyltransferaseTreatment of lecithin-cholesterol-acyltransferase deficiency · 10/10/2012 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

9,053

9,053 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,053 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).

4,359 in the last 10 years · low confidence

Phrase hits: 1,147 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,159

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
    Calabresi L21 papers · 2026

    Center E. Grossi Paoletti, Department of Pharmacological Sciences, Università degli Studi di Milano, 20133 Milano, Italy.

    Papers in Europe PMC
  2. 02
    Kuroda M17 papers · 2026

    Center for Advanced Medicine, Chiba University Hospital, Chiba University.

    Papers in Europe PMC
  3. 03
    Ossoli A14 papers · 2026

    Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari Università degli Studi di Milano, Milano, Italy.

    Papers in Europe PMC
  4. 04
    Pavanello C14 papers · 2026

    Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari Università degli Studi di Milano, Milano, Italy.

    Papers in Europe PMC
  5. 05
    Yokote K12 papers · 2026

    Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba University.

    Papers in Europe PMC
  6. 06
    Franceschini G8 papers · 2018

    Section of Chemical and Biomolecular Sciences, DeFENS, Università degli Studi di Milano, Milano, Italy.

    Papers in Europe PMC
  7. 07
    Simonelli S8 papers · 2021

    Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari Università degli Studi di Milano, Milano, Italy.

    Papers in Europe PMC
  8. 08
    Bujo H7 papers · 2021

    From the Department of Genome Research and Clinical Application, Graduate School of Medicine (M.K., S.A., Y.A., H.B.) and Center for Advanced Medicine, Chiba University Hospital (M.K.), Chiba University, Chiba, Japan; Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands (A.G.H., E.S.G.S.); Department of Nephrology in Internal Medicine, Kitasato University Hospital, Sagamihara, Japan (K.K.); Department of Internal Medicine and Molecular Science, Osaka University Graduate School of Medicine, Suita, Japan (S.Y.); Division of Endocrinology and Metabolism, Department of Medicine, Diabetes Center, Jichi Medical University, Shimotsuke, Japan (S.I.); Chiba University, Chiba, Japan (Y.S.); and Department of Clinical-Laboratory and Experimental-Research Medicine, Toho University Sakura Medical Center, Sakura, Japan (H.B.). hideaki.bujo@med.toho-u.ac.jp.

    Papers in Europe PMC
  9. 09
    Maezawa Y7 papers · 2026

    Department of Endocrinology, Hematology, and Gerontology, Chiba University, Graduates School of Medicine and Department of Diabetes, Metabolism, and Endocrinology, Chiba University Hospital, 2608670 Chiba, Japan.

    Papers in Europe PMC
  10. 10
    Veglia F7 papers · 2022

    Monzino Cardiologic Institute, IRCCS, Milano, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

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.

Recruiting or not-yet-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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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 LCAT deficiency — 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.

("LCAT deficiency" OR "Lecithin-cholesterol acyltransferase deficiency") OR ("DTHD1" OR "DTHD1 syndrome" OR "DTHD1-related" OR "LCAT" OR "LCAT syndrome" OR "LCAT-related")

Run this search on Europe PMC

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

"LCAT deficiency" OR "Lecithin-cholesterol acyltransferase deficiency"

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: 1 interventional · 2 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (9053) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T14:44:55.718Z