Condition (MeSH)
Smith-Lemli-Opitz Syndrome
ClinicalTrials.gov lists 18 trials for Smith-Lemli-Opitz Syndrome or a narrower condition beneath it. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has the most among industry and government lead sponsors, with 8.
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Trials per phase
18 of the 18 trials are tagged with Smith-Lemli-Opitz Syndrome itself; the rest are tagged with a narrower condition beneath it.
When did Smith-Lemli-Opitz Syndrome trials start? (12)
Shown in this order: most recent first, 1990 onwards. 2026 is partial: trials registered with a 2026 start date so far, not a full year.
Trials over time, by phase
- Phase 1/2
- Phase 2
- Not applicable
- Observational
Top of scale: 4
Trials registered with a start date in each year, 1990 onward, stacked by phase (complete years only; the current partial year is in the table's notes). The table below lists the same counts, most recent years first.
| Year | Trials started |
|---|---|
| 2023 | 1 |
| 2022 | 1 |
| 2021 | 2 |
| 2018 | 1 |
| 2011 | 4 |
| 2009 | 1 |
| 2008 | 1 |
| 2005 | 1 |
| 2003 | 1 |
| 2001 | 2 |
Showing 10 of 12 earlier years.
No forecast is made for this condition: it averages 0.4 trial starts a year over the five years to September, under the 5 a year the method needs.
Recruitment duration, a model prediction: none of the 18 trials evaluated at the 2026-10-09 snapshot is predicted and still running. Source: ClinicalTrials.gov / AACT (CTTI), public domain.
What phase are Smith-Lemli-Opitz Syndrome trials in? (4)
Shown in this order: phase order.
Show the trials by phase as a table
| Phase | Trials |
|---|---|
| Phase 1/2 | 3 |
| Phase 2 | 5 |
| Not applicable | 2 |
| Observational | 8 |
How many Smith-Lemli-Opitz Syndrome trials are recruiting? (6)
Shown in this order: the order a trial moves through, from not yet recruiting to unknown.
| Status | Trials |
|---|---|
| Recruiting | 1 |
| Active, not recruiting | 1 |
| Completed | 10 |
| Terminated | 2 |
| Withdrawn | 2 |
Showing 5 of 6 statuses.
Status as registered on ClinicalTrials.gov. Each trial is counted once.
Which lead sponsors run the most Smith-Lemli-Opitz Syndrome trials? (3)
Shown in this order: most trials first. Lead sponsors the registry classes as industry, NIH, US federal, other government or network. A hospital or university the registry files as government can appear here. Sponsors it classes as academic or other are shown on the full page, because that class cannot separate an institution from a named investigator.
| Sponsor | Trials |
|---|---|
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 8 |
| Forbes Porter, M.D. | 1 |
| National Center for Research Resources (NCRR) | 1 |
Which drugs are being tested for Smith-Lemli-Opitz Syndrome? (5)
Shown in this order: most trials first. One row per drug, matched to a single molecule under all its names, ranked by number of trials.
| Drug | Trials |
|---|---|
| Cholesterol | 3 |
| SIMVASTATIN | 2 |
| Lactose | 1 |
| Lovastatin | 1 |
| Cholic Acid | 1 |
Interventions as named in the registry (6)
Shown in this order: most trials first.
| Drug | Trials |
|---|---|
| crystalline cholesterol oil-based suspension | 1 |
| Cholesterol Suspension | 1 |
| Diet | 1 |
| OraPlus | 1 |
| Antioxidants | 1 |
Showing 5 of 6 interventions.
These are the names sponsors entered on ClinicalTrials.gov that we have not matched to a single molecule. Some are drugs under a brand or code name; others are procedures, doses or arm labels.
Which serious adverse events do Smith-Lemli-Opitz Syndrome trials report? (1)
Shown in this order: most subjects affected first. Subjects affected summed across trials, a cross-trial signal, not a rate.
| Adverse event | Subjects affected | Trials |
|---|---|---|
| Muscle Pain and Elevated CK | 1 | 1 |
Which publications cover Smith-Lemli-Opitz Syndrome? (16)
Shown in this order: major-topic papers first, then newest, then most linked to trials.
| Publication | Journal | Year | Major topic |
|---|---|---|---|
| Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome. | American journal of medical genetics. Part A | 2025 | Yes |
| Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. | American journal of medical genetics. Part C, Seminars in medical genetics | 2012 | Yes |
| MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. | Neuroradiology | 2004 | Yes |
| Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. | Archives of ophthalmology (Chicago, Ill. : 1960) | 2003 | Yes |
| Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. | Journal of medical screening | 2002 | Yes |
Showing 5 of 16 publications.
Prevalence (24)
Shown in this order: jurisdiction, then disease name. Orphanet observation for the mapped ORPHA concept; the mapping relation column says whether that concept is exactly this condition or broader or narrower.
| Orphanet disease | Type | Class | Geography | Jurisdiction | Mapping relation |
|---|---|---|---|---|---|
| Smith-Lemli-Opitz syndrome | Prevalence at birth | 1-9 / 100 000 | United Kingdom | GB | Unspecified |
| Smith-Lemli-Opitz syndrome | Prevalence at birth | 1-9 / 100 000 | United Kingdom | GB | Exact |
| Smith-Lemli-Opitz syndrome | Prevalence at birth | 1-9 / 100 000 | United Kingdom | GB | Exact |
| Smith-Lemli-Opitz syndrome | Prevalence at birth | 1-9 / 100 000 | United States | US | Unspecified |
| Smith-Lemli-Opitz syndrome | Prevalence at birth | 1-9 / 100 000 | United States | US | Exact |
Showing 5 of 24 prevalence observations.
Rare-disease identity (2)
Shown in this order: exact, broader, narrower, other.
| Orphanet disease | ORPHA code | Relation | Source |
|---|---|---|---|
| Smith-Lemli-Opitz syndrome | 818 | Exact | Orphanet Rare Disease Ontology (ORDO) |
| Smith-Lemli-Opitz syndrome | 818 | Exact | Orphadata Science knowledge files, Product 1 |
Not on this page
Not measured: delivery record.
Checked, with nothing recorded for this condition: sub-conditions in mesh.