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Condition (MeSH)

Holoprosencephaly

ClinicalTrials.gov lists 5 trials for Holoprosencephaly or a narrower condition beneath it. National Human Genome Research Institute (NHGRI) has the most among industry and government lead sponsors, with 4.

MeSH D016142 Musculoskeletal Diseases C05 C10 C16 Listed by Orphanet as a rare disease
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Trials started per year Trials started per year 5 Trials by phase Trials by phase 1 Trials by recruitment status Trials by recruitment status 1 Lead sponsors Lead sponsors 1 Publications Publications 6 Prevalence Prevalence 24 Rare-disease identity Rare-disease identity 2 Trials started per year Trials started per year 5 Trials by phase Trials by phase 1 Trials by recruitment status Trials by recruitment status 1 Lead sponsors Lead sponsors 1 Publications Publications 6 Prevalence Prevalence 24 Rare-disease identity Rare-disease identity 2

Rows recorded per section (log scale)

2 sections measured, none recorded · 1 not measured yet · 1 not computed

5 of the 5 trials are tagged with Holoprosencephaly itself; the rest are tagged with a narrower condition beneath it.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

When did Holoprosencephaly trials start? (5)

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

  • Observational

Top of scale: 1

1999: 1 trials (Observational 1) 2000: 1 trials (Observational 1) 2004: 1 trials (Observational 1) 2008: 1 trials (Observational 1) 2021: 1 trials (Observational 1)

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.

Trials started per year
Year Trials started
2021 1
2008 1
2004 1
2000 1
1999 1

No forecast is made for this condition: it averages 0.0 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 5 trials evaluated at the 2026-10-09 snapshot is predicted and still running. Source: ClinicalTrials.gov / AACT (CTTI), public domain.

What phase are Holoprosencephaly trials in? (1)

Shown in this order: phase order.

Trials by phase
Phase Trials
Observational 5

How many Holoprosencephaly trials are recruiting? (1)

Shown in this order: the order a trial moves through, from not yet recruiting to unknown.

Trials by recruitment status
Status Trials
Completed 5

Status as registered on ClinicalTrials.gov. Each trial is counted once.

Which lead sponsors run the most Holoprosencephaly trials? (1)

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.

Lead sponsors
Sponsor Trials
National Human Genome Research Institute (NHGRI) 4

Which publications cover Holoprosencephaly? (6)

Shown in this order: major-topic papers first, then newest, then most linked to trials.

Publications
Publication Journal Year Major topic
Holoprosencephaly: a defect in brain patterning. Journal of neuropathology and experimental neurology 1998 Yes
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature genetics 1996 Yes
Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. Journal of craniofacial genetics and developmental biology 1992 Yes
Analysis of intercondylar notch size and shape in patients with cyclops syndrome after anterior cruciate ligament reconstruction. Journal of orthopaedic surgery and research 2021 No
RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Molecular genetics and metabolism 2000 No

Showing 5 of 6 publications.

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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.

Prevalence
Orphanet disease Type Class Geography Jurisdiction Mapping relation
Holoprosencephaly Prevalence at birth 1-5 / 10 000 United Kingdom GB Unspecified
Holoprosencephaly Prevalence at birth 1-5 / 10 000 United Kingdom GB Exact
Holoprosencephaly Prevalence at birth 1-5 / 10 000 United Kingdom GB Exact
Holoprosencephaly Prevalence at birth 1-9 / 100 000 United States US Exact
Holoprosencephaly Prevalence at birth 1-9 / 100 000 United States US Unspecified

Showing 5 of 24 prevalence observations.

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Rare-disease identity (2)

Shown in this order: exact, broader, narrower, other.

Rare-disease identity
Orphanet disease ORPHA code Relation Source
Holoprosencephaly 2162 Exact Orphadata Science knowledge files, Product 1
Holoprosencephaly 2162 Exact Orphanet Rare Disease Ontology (ORDO)

Not on this page

Not measured: delivery record.

Checked, with nothing recorded for this condition: serious adverse events in this condition's trials and sub-conditions in mesh.

Not computed for conditions with fewer than 10 trials: drugs tested.

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