Disease · MONDO_0010006

Sandhoff disease

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Sandhoff disease. Diseases, record MONDO_0010006. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0010006

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: Sandhoff disease; Open Targets
Open Targets ID: MONDO_0010006; Open Targets
Other names: GM2 gangliosidosis 0 variant, Hexosaminidases A and B deficiency, Sandhoff Jatzkewitz disease; Open Targets
Disease Ontology: DOID:3323; Disease Ontology
MeSH: D012497; MeSH
NCI Thesaurus: C85052; NCI Thesaurus
Orphanet: ORPHA:796; Orphanet
Highest stage of its drugs: Phase 3, for 2 of its 12 drugs, from ClinicalTrials.gov; Open Targets

Drugs12

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
MIGLUSTAT	CHEMBL1029	Small molecule	Phase 3	ClinicalTrials.gov	3	3	3	Drugs and targets
VENGLUSTAT	CHEMBL4297611	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	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
LEVACETYLLEUCINE	CHEMBL56021	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
TRENONACOG ALFA	CHEMBL3039538		Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
PYRIMETHAMINE	CHEMBL36	Small molecule	Phase 1/2	ClinicalTrials.gov	2	2	2	Drugs and targets

1 to 10 of 12

See all 12 drugs

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
UGCG	Ceramide glucosyltransferase	2	Ceramide glucosyltransferase inhibitor	Phase 3	https://conductscience.org/library/genes/7357	Drugs and targets
CD52	CAMPATH-1 antigen	1	CAMPATH-1 antigen inhibitor	Phase 2	https://conductscience.org/library/genes/1043	Drugs and targets
F9	Coagulation factor IX	1	Coagulation factor IX exogenous protein	Phase 2	https://conductscience.org/library/genes/2158	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

1 to 10 of 19

See all 19 targets

Trials10

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
NCT04221451	A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2	Phase 3	75	2026-01-28	Tay-Sachs Disease, Sandhoff Disease	VENGLUSTAT	Its record names the disease	ClinicalTrials.gov
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
NCT03759665	N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)	Phase 2	30	2024-03-12	GM2 Gangliosidosis, Tay-Sachs Disease, Sandhoff Disease	LEVACETYLLEUCINE, TRENONACOG ALFA	Its record names the disease	ClinicalTrials.gov
NCT04669535	A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease	Phase 1	9	2025-05-22	Tay-Sachs Disease, Sandhoff Disease	GILAVEBEXAGENE ANVUPARVOVEC	Its record names the disease	ClinicalTrials.gov
NCT03822013	Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)	Phase 3	30		GM2 Gangliosidosis, Supportive Care	MIGLUSTAT	Its record names the disease	ClinicalTrials.gov
NCT01102686	Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)	Phase 1/2	20		Gangliosidoses, GM2, Sandhoff Disease, Tay-Sachs Disease	PYRIMETHAMINE	Its record names the disease	ClinicalTrials.gov
NCT00672022	Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses	Phase 3	10		GM2 Gangliosidoses, Tay-Sachs, Sandhoff Disease	MIGLUSTAT	Its record names the disease	ClinicalTrials.gov
NCT06614569	Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease		7		GM2 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease	GILAVEBEXAGENE ANVUPARVOVEC	Its record names the disease	ClinicalTrials.gov
NCT00418847	Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis	Phase 2	5		Gangliosidoses GM2	MIGLUSTAT	Its record names the disease	ClinicalTrials.gov
NCT00679744	A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis	Phase 1	0		G(M2) Ganglioside, Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside	PYRIMETHAMINE	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials2

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	Source
Treatment With IB1001 vs Post-Treatment Washout: deaths from any cause	0 of 30	0 of 30	60	NCT03759665	Trial comparisons
Treatment With IB1001 vs Post-Treatment Washout: serious adverse events	2 of 30	0 of 30	60	NCT03759665	Trial comparisons

Papers from its trials9

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
19595619	RESULT	1	PubMed
42467089	DERIVED	1	PubMed
40817303	DERIVED	2	PubMed
37624739	DERIVED	1	PubMed
36456200	DERIVED	1	PubMed
34539759	DERIVED	1	PubMed
34349180	DERIVED	1	PubMed
33482890	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_0010006

GET https://conductscience.org/api/diseases/v1/MONDO_0010006/drugs

API reference For AI assistants