Disease · MONDO_0018868

metachromatic leukodystrophy

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. metachromatic leukodystrophy. Diseases, record MONDO_0018868. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0018868

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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: metachromatic leukodystrophy; Open Targets
Open Targets ID: MONDO_0018868; Open Targets
Other names: MLD, arylsulfatase A deficiency; Open Targets
Disease Ontology: DOID:10581; Disease Ontology
MeSH: D007966; MeSH
NCI Thesaurus: C61251; NCI Thesaurus
Orphanet: ORPHA:512; Orphanet
Highest stage of its drugs: Approval, for 1 of its 8 drugs, from FDA and 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
ATIDARSAGENE AUTOTEMCEL	CHEMBL4802262	Gene	Approval	FDA and TTD	3	0	0	Drugs and targets
CEBSULFASE ALFA	CHEMBL5095344	Enzyme	Phase 2	ClinicalTrials.gov and TTD	10	7	5	Drugs and targets
ALEMTUZUMAB	CHEMBL1201587	Antibody	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
CLOFARABINE	CHEMBL1750	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
HYDROXYUREA	CHEMBL467	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
MELPHALAN	CHEMBL852	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
MYCOPHENOLATE MOFETIL	CHEMBL1456	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
WARFARIN	CHEMBL1464	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets19

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
RRM1	Ribonucleoside-diphosphate reductase RR1	2	Ribonucleoside-diphosphate reductase RR1 inhibitor	Phase 2	https://conductscience.org/library/genes/6240	Drugs and targets
RRM2	Ribonucleoside-diphosphate reductase RR1	2	Ribonucleoside-diphosphate reductase RR1 inhibitor	Phase 2	https://conductscience.org/library/genes/6241	Drugs and targets
RRM2B	Ribonucleoside-diphosphate reductase RR1	2	Ribonucleoside-diphosphate reductase RR1 inhibitor	Phase 2	https://conductscience.org/library/genes/50484	Drugs and targets
ARSA	ARSA	1	ARSA exogenous gene	Approval	https://conductscience.org/library/genes/410	Drugs and targets
CD52	CAMPATH-1 antigen	1	CAMPATH-1 antigen inhibitor	Phase 2	https://conductscience.org/library/genes/1043	Drugs and targets
IMPDH1	Inosine-5'-monophosphate dehydrogenase (IMPDH)	1	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor	Phase 2	https://conductscience.org/library/genes/3614	Drugs and targets
IMPDH2	Inosine-5'-monophosphate dehydrogenase (IMPDH)	1	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor	Phase 2	https://conductscience.org/library/genes/3615	Drugs and targets
POLA1	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Phase 2	https://conductscience.org/library/genes/5422	Drugs and targets
POLA2	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Phase 2	https://conductscience.org/library/genes/23649	Drugs and targets
POLD1	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Phase 2	https://conductscience.org/library/genes/5424	Drugs and targets

1 to 10 of 19

See all 19 targets

Trials7

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. 2 more are not shown, since the checks do not confirm them.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00383448	HSCT for High Risk Inherited Inborn Errors	Phase 2	38	2019-07-11	Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease, Sandhoffs Disease, Wolman Disease, I-Cell Disease, Sanfilippo Syndrome, GM1 Gangliosidosis	ALEMTUZUMAB, CLOFARABINE, HYDROXYUREA, MELPHALAN, MYCOPHENOLATE MOFETIL	Its record names the disease	ClinicalTrials.gov
NCT03771898	A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy	Phase 2	36	2024-06-06	Metachromatic Leukodystrophy (MLD)	CEBSULFASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT01510028	Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD)	Phase 1/2	24	2018-10-15	Metachromatic Leukodystrophy (MLD)	CEBSULFASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT00418561	Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)	Phase 1	13	2015-08-13	Metachromatic Leukodystrophy (MLD)	CEBSULFASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT00681811	Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLD	Phase 2	11	2013-11-08	Late Infantile Metachromatic Leukodystrophy	CEBSULFASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT01887938	An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic Leukodystrophy	Phase 1/2	24		Metachromatic Leukodystrophy (MLD)	CEBSULFASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT00683189	Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy	Not applicable	10		Metachromatic Leukodystrophy	WARFARIN	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials1

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.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial
100 U/kg HGT1111 vs 200 U/kg HGT1111: serious adverse events	2 of 6	4 of 5	11	NCT00681811

Source Trial comparisons

Papers from its trials4

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
26000324	RESULT	1	PubMed
33332761	DERIVED	2	PubMed
32792226	DERIVED	1	PubMed
21586746	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_0018868

GET https://conductscience.org/api/diseases/v1/MONDO_0018868/drugs

API reference For AI assistants