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Condition (MeSH)

Pyruvate Carboxylase Deficiency Disease

ClinicalTrials.gov lists 1 trial for Pyruvate Carboxylase Deficiency Disease or a narrower condition beneath it.

MeSH D015324 Nervous System Diseases C10 C16 C18 Listed by Orphanet as a rare disease
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Trials by phase Trials by phase 1 Trials by recruitment status Trials by recruitment status 1 Publications Publications 3 Prevalence Prevalence 6 Rare-disease identity Rare-disease identity 2 Trials by phase Trials by phase 1 Trials by recruitment status Trials by recruitment status 1 Publications Publications 3 Prevalence Prevalence 6 Rare-disease identity Rare-disease identity 2

Rows recorded per section

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

1 of the 1 trial is tagged with Pyruvate Carboxylase Deficiency Disease 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.

What phase are Pyruvate Carboxylase Deficiency Disease trials in? (1)

Shown in this order: phase order.

Trials by phase
Phase Trials
Expanded access 1

How many Pyruvate Carboxylase Deficiency Disease 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
No longer available 1

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

Which publications cover Pyruvate Carboxylase Deficiency Disease? (3)

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

Publications
Publication Journal Year Major topic
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism 2010 Yes
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Molecular genetics and metabolism 2005 Yes
Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential. Journal of inherited metabolic disease 2006 No

Prevalence (6)

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
Pyruvate carboxylase deficiency Prevalence at birth 1-9 / 1 000 000 Europe Not stated Exact
Pyruvate carboxylase deficiency Point prevalence Unknown Worldwide Not stated Unspecified
Pyruvate carboxylase deficiency Point prevalence Unknown Worldwide Not stated Exact
Pyruvate carboxylase deficiency Point prevalence Unknown Worldwide Not stated Exact
Pyruvate carboxylase deficiency Prevalence at birth 1-9 / 1 000 000 Europe Not stated Exact

Showing 5 of 6 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
Pyruvate carboxylase deficiency 3008 Exact Orphadata Science knowledge files, Product 1
Pyruvate carboxylase deficiency 3008 Exact Orphanet Rare Disease Ontology (ORDO)

Not on this page

Not measured: delivery record.

Checked, with nothing recorded for this condition: trials started per year, lead sponsors, 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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