ORPHA:79293
Familial LCAT deficiency
Also known as: Complete LCAT deficiency · FLD · Norum disease
Publications
444
75.2th percentile
Trials
2
Interventional, condition-specific
Researchers
1,221
Distinct authors in sample
Gene link
LCAT
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009515
- OMIM:245900
- UMLS:C0023195
- NCIT:C84813
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — LCAT
- LiteraturePresent
444 matched papers (161 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
2 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)
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?
444
444 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.
444 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).
161 in the last 10 years · medium confidence · 75.2th percentile (publications denominator)
Phrase hits: 444 · MeSH hits: 0
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.
- 01Calabresi L25 papers · 2026
Center E. Grossi Paoletti, Department of Pharmacological Sciences, Università degli Studi di Milano, 20133 Milano, Italy.
Papers in Europe PMC - 02Remaley 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 - 03Pavanello 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 - 04Freeman 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 - 05Ossoli 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 - 06Kuroda M11 papers · 2026
Center for Advanced Medicine, Chiba University Hospital, Chiba, Japan.
Papers in Europe PMC - 07Franceschini G10 papers · 2018
Section of Chemical and Biomolecular Sciences, DeFENS, Università degli Studi di Milano, Milano, Italy.
Papers in Europe PMC - 08Yokote K9 papers · 2026
Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba, Japan.
Papers in Europe PMC - 09Manthei KA8 papers · 2025
Life Sciences Institute, University of Michigan, Ann Arbor, MI, 48109, USA.
Papers in Europe PMC - 10Shamburek 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?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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
- NCT06217588·RECRUITING·LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study
Conditions: LCAT Deficiency·Matched via recall expansion
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 LCAT deficiency" OR "Complete LCAT deficiency" OR "Norum disease" OR "lecithin acyltransferase deficiency" OR "lecithin:cholesterol acyltransferase deficiency"
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" OR "LCAT"
Recall-expansion terms: LCAT
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T02:13:43.026Z