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ORPHA:79293

Familial LCAT deficiency

low confidenceSubtype of disorder

Also known as: Complete LCAT deficiency · FLD · Norum disease

Publications

8,710

Trials

1

Interventional, condition-specific

Researchers

1,221

Distinct authors in sample

Gene link

LCAT

Strong

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT .

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 (3)

complete LCAT deficiency · lecithin acyltransferase deficiency · 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

    Strong — LCAT

  2. LiteraturePresent

    8,710 matched papers (4,164 in last 10 years) Source

  3. Phenotype characterisedPresent

    9 HPO annotations (e.g. Hypertriglyceridemia; Decreased circulating HDL-C concentration; Foam cells) 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 (LCAT).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

9

Associated phenotypes · MONDO:0009515

  • Hypertriglyceridemia
  • Decreased circulating HDL-C concentration
  • Foam cells
  • Hemolytic anemia
  • Normochromic anemia

Showing 5 of 9 — 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?

8,710

8,710 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.

8,710 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).

4,164 in the last 10 years · low confidence

Phrase hits: 444 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,221

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 L25 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Remaley AT18 papers · 2024

    Lipoprotein Metabolism Section, Cardiovascular-Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, United States.

    Papers in Europe PMC
  3. 03
    Pavanello C13 papers · 2026

    Center E. Grossi Paoletti, Department of Pharmacological and Biomolecular Sciences "Rodolfo Paoletti", Università degli Studi di Milano, Via Balzaretti 9, 20133 Milan, Italy.

    Papers in Europe PMC
  4. 04
    Freeman LA12 papers · 2024

    Lipoprotein Metabolism Section, Cardiovascular-Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, United States.

    Papers in Europe PMC
  5. 05
    Ossoli A12 papers · 2026

    Center E. Grossi Paoletti, Department of Pharmacological and Biomolecular Sciences "Rodolfo Paoletti", Università degli Studi di Milano, Via Balzaretti 9, 20133 Milan, Italy.

    Papers in Europe PMC
  6. 06
    Kuroda M11 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Franceschini G10 papers · 2018

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

    Papers in Europe PMC
  8. 08
    Yokote K9 papers · 2026

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

    Papers in Europe PMC
  9. 09
    Manthei KA8 papers · 2025

    Life Sciences Institute, University of Michigan, Ann Arbor, MI, 48109, USA.

    Papers in Europe PMC
  10. 10
    Shamburek RD8 papers · 2022

    Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

    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

1 observational study matches 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 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 Familial 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.

("Familial LCAT deficiency" OR "Complete LCAT deficiency" OR "Norum disease" OR "lecithin acyltransferase deficiency" OR "lecithin:cholesterol acyltransferase deficiency") 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):

"Familial LCAT deficiency" OR "Complete LCAT deficiency" OR "Norum disease" OR "lecithin acyltransferase 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 · 1 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

Synonyms dropped by stoplist: FLD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (8710) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:13:43.026Z