Disease · MONDO_0100464
acid sphingomyelinase deficiency
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. acid sphingomyelinase deficiency. Diseases, record MONDO_0100464. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0100464
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
- acid sphingomyelinase deficiency
- Open Targets ID
- MONDO_0100464
- Highest stage of its drugs
- Approval, for its one drug, from ClinicalTrials.gov
Source 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 |
|---|---|---|---|---|---|---|---|
| OLIPUDASE ALFA | CHEMBL3707358 | Enzyme | Approval | ClinicalTrials.gov | 9 | 9 | 7 |
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.
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 |
|---|---|---|---|---|---|---|---|---|
| NCT02004691 | Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency | Phase 2/3 | 36 | 2022-05-24 | Sphingomyelin Lipidosis | OLIPUDASE ALFA | Its record names the disease | ClinicalTrials.gov |
| NCT02004704 | A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency | Phase 2 | 25 | 2024-07-03 | Sphingomyelin Lipidosis | OLIPUDASE ALFA | Its record names the disease | ClinicalTrials.gov |
| NCT02292654 | Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency | Phase 1/2 | 20 | 2021-02-01 | Sphingomyelin Lipidosis | OLIPUDASE ALFA | Its record names the disease | ClinicalTrials.gov |
| NCT05359276 | Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in France | 40 | Acid Sphingomyelinase Deficiency (ASMD) | OLIPUDASE ALFA | Its record names the disease | ClinicalTrials.gov | ||
| NCT06192576 | A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD) | 10 | Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency | OLIPUDASE ALFA | Its record names the disease | ClinicalTrials.gov | ||
| NCT06949358 | A Study to Evaluate Safety and Tolerability of Olipudase Alfa in Pediatric and Adult Participants With Acid Sphingomyelinase Deficiency (ASMD) Who Completed the DFI12712 or the LTS13632 Study in France | Phase 2 | 3 | Acid Sphingomyelinase Deficiency | OLIPUDASE ALFA | Its record names the disease | ClinicalTrials.gov | |
| NCT04877132 | Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD) | Sphingomyelin Lipidosis | OLIPUDASE ALFA | Its record names the disease | ClinicalTrials.gov |
Comparisons in its trials3
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 |
|---|---|---|---|---|---|
| Olipudase Alfa vs Placebo: Number of Participants Who Developed Anti-Drug Antibodies (ADA) to Olipudase Alfa up to Week 52 | 4 of 18 | 1 of 18 | 36 | NCT02004691 | Trial comparisons |
| Olipudase Alfa: Participants From DFI13412 (Adults) vs Olipudase Alfa: Participants From DFI13803 (Pediatrics): deaths from any cause | 0 of 5 | 0 of 20 | 25 | NCT02004704 | Trial comparisons |
| Olipudase Alfa: Participants From DFI13412 (Adults) vs Olipudase Alfa: Participants From DFI13803 (Pediatrics): serious adverse events | 1 of 5 | 10 of 20 | 25 | NCT02004704 | Trial comparisons |
Papers from its trials7
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
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_0100464
GET https://conductscience.org/api/diseases/v1/MONDO_0100464/drugs