Disease · MONDO_0002561

lysosomal storage disease

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. lysosomal storage disease. Diseases, record MONDO_0002561. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0002561

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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 storage disease; Open Targets
Open Targets ID: MONDO_0002561; Open Targets
Other names: disorder of lysosomal enzymes, lysosomal disease, lysosomal disorder, lysosomal storage disorder, lysosome disease, lysosome disorder; Open Targets
Disease Ontology: DOID:3211; Disease Ontology
MeSH: D016464; MeSH
NCI Thesaurus: C61250; NCI Thesaurus
Orphanet: ORPHA:68366; Orphanet
Highest stage of its drugs: Phase 3, for 1 of its 8 drugs, from TTD; Open Targets

Drugs8

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	Source
VESTRONIDASE ALFA	CHEMBL3707382	Enzyme	Phase 3	TTD	1	0	0	Drugs and targets
ANTILYMPHOCYTE IMMUNOGLOBULIN (HORSE)	CHEMBL2108981		Phase 2/3	ClinicalTrials.gov	1	1	0	Drugs and targets
BUSULFAN	CHEMBL820	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
CYCLOPHOSPHAMIDE	CHEMBL1200796	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
LARONIDASE	CHEMBL1201595	Enzyme	Phase 1	ClinicalTrials.gov	1	1	1	Drugs and targets
ALEMTUZUMAB	CHEMBL1201587	Antibody	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets
CLOFARABINE	CHEMBL1750	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets
MELPHALAN	CHEMBL852	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets15

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.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
CD52	CAMPATH-1 antigen	1	CAMPATH-1 antigen inhibitor	Unknown	https://conductscience.org/library/genes/1043	Drugs and targets
POLA1	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Unknown	https://conductscience.org/library/genes/5422	Drugs and targets
POLA2	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Unknown	https://conductscience.org/library/genes/23649	Drugs and targets
POLD1	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Unknown	https://conductscience.org/library/genes/5424	Drugs and targets
POLD2	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Unknown	https://conductscience.org/library/genes/5425	Drugs and targets
POLD3	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Unknown	https://conductscience.org/library/genes/10714	Drugs and targets
POLD4	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Unknown	https://conductscience.org/library/genes/57804	Drugs and targets
POLE	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Unknown	https://conductscience.org/library/genes/5426	Drugs and targets
POLE2	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Unknown	https://conductscience.org/library/genes/5427	Drugs and targets
POLE3	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Unknown	https://conductscience.org/library/genes/54107	Drugs and targets

1 to 10 of 15

See all 15 targets

Trials3

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
NCT00176904	Stem Cell Transplant for Inborn Errors of Metabolism	Phase 2/3	135	2011-06-10	Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Gaucher's Disease, Fucosidosis, Wolman Disease, Niemann-Pick Disease, Batten Disease, GM1 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease	BUSULFAN, CYCLOPHOSPHAMIDE	Its record names the disease	ClinicalTrials.gov
NCT01626092	Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders	Not applicable	3	2016-10-11	Lysosomal Storage Disease, Peroxisomal Disorder	ALEMTUZUMAB, CLOFARABINE, MELPHALAN	Its record names the disease	ClinicalTrials.gov
NCT04532047	PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)	Phase 1	10		MPS I, MPS II, MPS IVA, MPS VI, Mps VII, Gaucher Disease, Type 2, Gaucher Disease, Type 3, Pompe Disease Infantile-Onset, Wolman Disease	LARONIDASE	Open Targets' reading, confirmed by NLM's indexing of its papers	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 trials12

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
32102934	RESULT	1	PubMed
30337566	RESULT	1	PubMed
28657663	RESULT	1	PubMed
28374935	RESULT	1	PubMed
23510062	RESULT	1	PubMed
21637107	RESULT	1	PubMed
19948615	RESULT	1	PubMed
15324318	RESULT	1	PubMed
9918480	RESULT	1	PubMed
39891377	DERIVED	1	PubMed

1 to 10 of 12

See all 12 papers from its trials

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_0002561

GET https://conductscience.org/api/diseases/v1/MONDO_0002561/drugs

API reference For AI assistants