Disease · MONDO_0800449

lysosomal acid lipase deficiency

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. lysosomal acid lipase deficiency. Diseases, record MONDO_0800449. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0800449

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: lysosomal acid lipase deficiency; Open Targets
Open Targets ID: MONDO_0800449; Open Targets
Other names: LAL deficiency; Open Targets
Disease Ontology: DOID:0080217; Disease Ontology
MeSH: C531854; MeSH
Orphanet: ORPHA:275761; Orphanet
Highest stage of its drugs: Approval, for its one drug, from FDA; Open Targets

Drugs1

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here
SEBELIPASE ALFA	CHEMBL3039537	Enzyme	Approval	FDA	7	6	6

Source Drugs and targets

Targets0

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

None in this release.

Trials6

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT01757184	Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency	Phase 3	66	2016-04-18	Lysosomal Acid Lipase Deficiency	SEBELIPASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT02112994	Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency	Phase 2	31	2019-01-15	Lysosomal Acid Lipase Deficiency	SEBELIPASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT02193867	Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency	Phase 2	10	2019-11-18	Lysosomal Acid Lipase Deficiency	SEBELIPASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT01371825	Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency	Phase 2/3	9	2016-04-18	Lysosomal Acid Lipase Deficiency, Wolman Disease	SEBELIPASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT01488097	Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency	Phase 2	8	2016-05-09	Cholesterol Ester Storage Disease (CESD), Lysosomal Acid Lipase Deficiency, LAL-Deficiency	SEBELIPASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT02376751	An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency				Lysosomal Acid Lipase Deficiency	SEBELIPASE ALFA	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials0

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

None in this release.

Papers from its trials5

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
23348766	RESULT	1	PubMed
35442238	DERIVED	1	PubMed
34774639	DERIVED	1	PubMed
32657505	DERIVED	1	PubMed
24993530	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0800449

GET https://conductscience.org/api/diseases/v1/MONDO_0800449/drugs

API reference For AI assistants