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ORPHA:275761

Lysosomal acid lipase deficiency

medium confidenceDisorder

Also known as: LAL deficiency · LALD

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

11,040

95.5th percentile

Trials

7

Interventional, condition-specific

Researchers

1,113

Distinct authors in sample

Gene link

LIPA

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to and liver dysfunction, , accelerated 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.

Orphanet entry

Cross-references

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

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 — LIPA

  2. LiteraturePresent

    11,040 matched papers (6,218 in last 10 years) Source

  3. Phenotype characterisedPresent

    125 HPO annotations (e.g. Hepatic steatosis; Decreased circulating HDL-C concentration; Cirrhosis) Source

  4. Animal modelPresent

    4 genotype models (Rattus norvegicus, Mus musculus) Source

  5. Orphan designationPartial

    1 FDA · 1 EMA designations (none yet with FDA orphan-indication approval) — e.g. recombinant human lysosomal acid lipase Source

  6. Interventional trialPresent

    7 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 (LIPA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

125

Associated phenotypes · MONDO:0800449

  • Hepatic steatosis
  • Decreased circulating HDL-C concentration
  • Cirrhosis
  • Disseminated intravascular coagulation
  • Bone-marrow foam cells

Showing 5 of 125 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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 lysosomal acid lipase (Kanuma)Treatment of lysosomal acid lipase deficiency · 17/12/2010 · PositiveEMA designation
  • FDA sebelipase alfa (Kanuma)Lysosomal acid lipase deficiency · 2010-07-01

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0800449

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

11,040

11,040 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.

11,040 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).

6,218 in the last 10 years · medium confidence · 95.5th percentile (publications denominator)

Phrase hits: 835 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,113

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
    Kratky D12 papers · 2026

    Gottfried Schatz Research Center, Medical University of Graz, Graz, Austria; BioTechMed-Graz, Graz, Austria. Electronic address: dagmar.kratky@medunigraz.at.

    Papers in Europe PMC
  2. 02
    Abel F11 papers · 2026

    Alexion Pharmaceuticals, Inc., Boston, MA, USA.

    Papers in Europe PMC
  3. 03
    Jones SA10 papers · 2026

    Manchester Centre for Genomic Medicine, , Oxford Road , ,

    Papers in Europe PMC
  4. 04
    Balwani M7 papers · 2025

    Icahn School of Medicine at Mount Sinai Hospital , New York, NY

    Papers in Europe PMC
  5. 05
    Brassier A7 papers · 2025

    Hôpital Necker-Enfants Malades and IMAGINE Institute, 149 Rue de Sèvres, 75015, Paris, France.

    Papers in Europe PMC
  6. 06
    Marulkar S7 papers · 2022

    Alexion Pharmaceuticals, Inc., 100 College Street, New Haven, CT, 06510, USA.

    Papers in Europe PMC
  7. 07
    Vijay S7 papers · 2026

    Department of Clinical Inherited Metabolic Disorders Birmingham Women's and Children's Hospital NHS Trust UK.

    Papers in Europe PMC
  8. 08
    Amendola M5 papers · 2025

    , , ,

    Papers in Europe PMC
  9. 09
    Laurent M5 papers · 2025

    , , ,

    Papers in Europe PMC
  10. 10
    Vujić N5 papers · 2026

    Division of Molecular Biology and Biochemistry, Gottfried Schatz Research Center, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; none in our sample are currently recruiting.

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

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

medium confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 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

15 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 2026-07-30

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 Lysosomal acid lipase 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.

("Lysosomal acid lipase deficiency" OR "LAL deficiency") OR (MESH:"[OBSOLETE] Lysosomal acid lipase deficiency") OR ("LIPA" OR "LIPA syndrome" OR "LIPA-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Lysosomal acid lipase deficiency

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

"Lysosomal acid lipase deficiency" OR "LAL deficiency" OR "[OBSOLETE] Lysosomal acid lipase 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: 7 interventional · 15 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LALD

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 2026-07-27T11:37:26.897Z