Disease · MONDO_0010703

ornithine carbamoyltransferase deficiency

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. ornithine carbamoyltransferase deficiency. Diseases, record MONDO_0010703. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0010703

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: ornithine carbamoyltransferase deficiency; Open Targets
Open Targets ID: MONDO_0010703; Open Targets
Other names: OCT deficiency, OTC deficiency, OTCD, deficiency of citrulline phosphorylase, ornithine carbamoyltransferase deficiency disease, ornithine transcarbamylase deficiency; Open Targets
Disease Ontology: DOID:9271; Disease Ontology
MeSH: D020163; MeSH
NCI Thesaurus: C84957; NCI Thesaurus
Orphanet: ORPHA:664; Orphanet
Highest stage of its drugs: Approval, for 1 of its 3 drugs, from EMA Human Drugs; 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
SODIUM PHENYLBUTYRATE	CHEMBL1746	Small molecule	Approval	EMA Human Drugs	1	0	0	Drugs and targets
AVALOTCAGENE ONTAPARVOVEC	CHEMBL4650252	Gene	Phase 3	ClinicalTrials.gov and TTD	4	2	2	Drugs and targets
CARGLUMIC ACID	CHEMBL1201780	Small molecule	Phase 2	ClinicalTrials.gov	2	2	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
CPS1	Carbamoyl-phosphate synthase [ammonia], mitochondrial	1	Carbamoyl-phosphate synthase [ammonia], mitochondrial positive allosteric modulator	Phase 2	https://conductscience.org/library/genes/1373

Source Drugs and targets

Trials3

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. 1 more is not shown, since the checks do not confirm it.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT01599286	Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia	Phase 2	35	2021-02-15	Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ornithine Carbamoyltransferase Deficiency	CARGLUMIC ACID	Its record names the disease	ClinicalTrials.gov
NCT02991144	Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency	Phase 1/2	16	2022-12-23	Ornithine Transcarbamylase (OTC) Deficiency	AVALOTCAGENE ONTAPARVOVEC	Its record names the disease	ClinicalTrials.gov
NCT05345171	Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency	Phase 3	37		OTC Deficiency	AVALOTCAGENE ONTAPARVOVEC	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
N-carbamylglutamate (NCG) vs Placebo: deaths from any cause	14 of 25	10 of 24	49	NCT01599286	Trial comparisons
N-carbamylglutamate (NCG) vs Placebo: serious adverse events	8 of 25	6 of 24	49	NCT01599286	Trial comparisons

Papers from its trials2

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
38171926	DERIVED	1	PubMed
33006765	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

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_0010703

GET https://conductscience.org/api/diseases/v1/MONDO_0010703/drugs

API reference For AI assistants