ORPHA:275761
Lysosomal acid lipase deficiency
Also known as: LAL deficiency · LALD
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
835
91.8th percentile
Trials
7
Interventional, condition-specific
Researchers
1,113
Distinct authors in sample
Gene link
LIPA
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0800449
- MeSH:C531854
- UMLS:C5574740
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
Definitive — LIPA
- LiteraturePresent
835 matched papers (670 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
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)
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?
835
835 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
835 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).
670 in the last 10 years · medium confidence · 91.8th percentile (publications denominator)
Phrase hits: 835 · MeSH hits: 0
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.
- 01Kratky 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 - 02
- 03Jones SA10 papers · 2026
Manchester Centre for Genomic Medicine, , Oxford Road , ,
Papers in Europe PMC - 04Balwani M7 papers · 2025
Icahn School of Medicine at Mount Sinai Hospital , New York, NY
Papers in Europe PMC - 05Brassier A7 papers · 2025
Hôpital Necker-Enfants Malades and IMAGINE Institute, 149 Rue de Sèvres, 75015, Paris, France.
Papers in Europe PMC - 06Marulkar S7 papers · 2022
Alexion Pharmaceuticals, Inc., 100 College Street, New Haven, CT, 06510, USA.
Papers in Europe PMC - 07Vijay S7 papers · 2026
Department of Clinical Inherited Metabolic Disorders Birmingham Women's and Children's Hospital NHS Trust UK.
Papers in Europe PMC - 08
- 09
- 10Vujić 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 27 July 2026
7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).
medium confidence · 89.9th 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
- NCT01633489·RECRUITING·Lysosomal Acid Lipase (LAL) Deficiency Registry
Conditions: Lysosomal Acid Lipase Deficiency · Cholesterol Ester Storage Disease · Wolman Disease · Acid Cholesteryl Ester Hydrolase Deficiency, Type 2·Matched via name phrase
- NCT05368038·ENROLLING BY INVITATION·ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Conditions: Acid Sphingomyelinase Deficiency · Ceroid Lipofuscinosis, Neuronal, 2 · Cerebrotendinous Xanthomatosis · Fabry Disease·Matched via name phrase
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.
"Lysosomal acid lipase deficiency" OR "LAL deficiency"
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" OR "LIPA"
Recall-expansion terms: LIPA
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, recall-expansion; 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