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Condition (MeSH)

Carbamoyl-Phosphate Synthase I Deficiency Disease

ClinicalTrials.gov lists 9 trials for Carbamoyl-Phosphate Synthase I Deficiency Disease or a narrower condition beneath it.

MeSH D020165 Nervous System Diseases C10 C16 C18 Listed by Orphanet as a rare disease
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Phase 1 Phase 1 1 Phase 2 Phase 2 3 Observational Observational 5 Phase 1 Phase 1 1 Phase 2 Phase 2 3 Observational Observational 5

Trials per phase

9 of the 9 trials are tagged with Carbamoyl-Phosphate Synthase I Deficiency Disease itself; the rest are tagged with a narrower condition beneath it.

Get the Carbamoyl-Phosphate Synthase I Deficiency Disease report as a PDF

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When did Carbamoyl-Phosphate Synthase I Deficiency Disease trials start? (7)

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
  • Phase 2
  • Observational

Top of scale: 3

2007: 1 trials (Phase 2 1) 2010: 1 trials (Phase 2 1) 2011: 1 trials (Phase 1 1) 2012: 1 trials (Phase 2 1) 2018: 1 trials (Observational 1) 2020: 1 trials (Observational 1) 2022: 3 trials (Observational 3)

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
2022 3
2020 1
2018 1
2012 1
2011 1
2010 1
2007 1

No forecast is made for this condition: it averages 0.6 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 9 trials evaluated at the 2026-10-09 snapshot is predicted and still running. Source: ClinicalTrials.gov / AACT (CTTI), public domain.

What phase are Carbamoyl-Phosphate Synthase I Deficiency Disease trials in? (3)

Shown in this order: phase order.

Show the trials by phase as a table
Trials by phase
Phase Trials
Phase 1 1
Phase 2 3
Observational 5

How many Carbamoyl-Phosphate Synthase I Deficiency Disease trials are recruiting? (6)

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

Trials by recruitment status
Status Trials
Recruiting 2
Active, not recruiting 1
Completed 3
Terminated 1
Withdrawn 1

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

Which serious adverse events do Carbamoyl-Phosphate Synthase I Deficiency Disease trials report? (6)

Shown in this order: most subjects affected first. Subjects affected summed across trials, a cross-trial signal, not a rate.

Serious adverse events in this condition's trials
Adverse event Subjects affected Trials
Gastrointestinal Disorders 9 1
Infections and Infestations 6 1
Nervous System 3 1
Injury 2 1
Metabolic and Nutritional 2 1

Which publications cover Carbamoyl-Phosphate Synthase I Deficiency Disease? (1)

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

Publications
Publication Journal Year Major topic
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. The New England journal of medicine 2007 No

Prevalence (15)

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
Carbamoyl-phosphate synthetase 1 deficiency Prevalence at birth <1 / 1 000 000 United States US Exact
Carbamoyl-phosphate synthetase 1 deficiency Prevalence at birth <1 / 1 000 000 United States US Exact
Carbamoyl-phosphate synthetase 1 deficiency Prevalence at birth <1 / 1 000 000 United States US Unspecified
Carbamoyl-phosphate synthetase 1 deficiency Prevalence at birth 1-9 / 1 000 000 Finland Not stated Unspecified
Carbamoyl-phosphate synthetase 1 deficiency Prevalence at birth 1-9 / 1 000 000 Finland Not stated Exact

Rare-disease identity (2)

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

Rare-disease identity
Orphanet disease ORPHA code Relation Source
Carbamoyl-phosphate synthetase 1 deficiency 147 Exact Orphadata Science knowledge files, Product 1
Carbamoyl-phosphate synthetase 1 deficiency 147 Exact Orphanet Rare Disease Ontology (ORDO)

Not on this page

Not measured: delivery record.

Checked, with nothing recorded for this condition: lead sponsors and sub-conditions in mesh.

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

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