Disease · MONDO_0010035
Smith-Lemli-Opitz syndrome
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. Smith-Lemli-Opitz syndrome. Diseases, record MONDO_0010035. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0010035
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.
- Other names
- 7-dehydrocholesterol reductase deficiency, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, SLO syndrome, SLOS
- Open Targets
Drugs3
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 |
|---|---|---|---|---|---|---|---|---|
| CHOLESTEROL | CHEMBL112570 | Small molecule | Phase 2 | ClinicalTrials.gov | 5 | 5 | 5 | Drugs and targets |
| SIMVASTATIN | CHEMBL1064 | Small molecule | Phase 2 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| CHOLIC ACID | CHEMBL205596 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
Targets1
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 |
|---|---|---|---|---|---|
| HMGCR | 3-hydroxy-3-methylglutaryl-coenzyme A reductase | 1 | HMG-CoA reductase inhibitor | Phase 2 | https://conductscience.org/library/genes/3156 |
Source Drugs and targets
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 |
|---|---|---|---|---|---|---|---|---|
| NCT00064792 | Simvastatin Therapy in Smith-Lemli-Opitz Syndrome | Phase 2 | 23 | 2014-06-06 | Smith-Lemli-Opitz Syndrome | CHOLESTEROL, SIMVASTATIN | Its record names the disease | ClinicalTrials.gov |
| NCT00272844 | Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome | Phase 1/2 | 23 | 2017-10-20 | Smith-Lemli-Opitz Syndrome | CHOLESTEROL | Its record names the disease | ClinicalTrials.gov |
| NCT03720990 | Smith-Lemli-Opitz Syndrome and Cholic Acid | Phase 1/2 | 12 | 2023-12-13 | Smith-Lemli-Opitz Syndrome | CHOLESTEROL, CHOLIC ACID | Its record names the disease | ClinicalTrials.gov |
| NCT01434745 | SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation | Not applicable | 1 | 2019-10-01 | Smith-Lemli-Opitz Syndrome | SIMVASTATIN | Its record names the disease | ClinicalTrials.gov |
| NCT00001721 | Study of Smith-Lemli-Opitz Syndrome | 130 | Smith-Lemli-Opitz Syndrome | CHOLESTEROL | Its record names the disease | ClinicalTrials.gov | ||
| NCT01773278 | Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) | Phase 2 | 100 | Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy, Hearing Loss | CHOLESTEROL | 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 |
|---|---|---|---|---|---|
| OraPlus vs Simvastatin Susp: serious adverse events | 1 of 23 | 0 of 23 | 46 | NCT00064792 | Trial comparisons |
| Simvastatin vs Placebo - Lactose: serious adverse events | 0 of 1 | 0 of 1 | 2 | NCT01434745 | Trial comparisons |
Papers from its trials8
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_0010035
GET https://conductscience.org/api/diseases/v1/MONDO_0010035/drugs