Rare disease

Propionic Acidaemia

Clinical trials recruiting in Australia for Propionic Acidaemia, a rare disease, as the public registries list them.

Also called: Ketotic hyperglycinemia; Propionic aciduria; Propionyl-CoA carboxylase deficiency; Propionic acidemia; PCC deficiency; PROP; Ketotic glycinemia

Sources: ClinicalTrials.gov, MedlinePlus, Orphanet Checked: 11 October 2026 Not medical advice

At a glance

1 trial recruiting in Australia

7 trials recruiting overseas

1-9 / 1 000 000 (Point prevalence, Europe, Validated) prevalence

Infancy; Neonatal age of onset

11 October 2026 date last checked

Trials in Australia

This Australian count is likely to be on the low side. It counts the trials this site files under this condition; the registry’s own search is broader and also returns closely related conditions, some of which have their own page here. If you are searching widely, check the registry as well — every trial below links to its own record.

  • Recruiting Not a phased study

    Study for people with Propionic Acidaemia

    Where

    No Australian site on this record is listed as recruiting right now, even though the trial itself is open. Check with the site or the official record before travelling.

    • Royal Children's Hospital Melbourne, Parkville (VIC) — Withdrawn
    Who can join Age 2 Years and over. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.
    Sponsor ModernaTX, Inc.
    Timeline
    Started 16 June 2023 Today 16 October 2026 Estimated completion 30 September 2026

    Past estimated completion. The registry still lists this trial as open, and the date it gave for finishing has been and gone. Confirm with the official record before you act on it.

    NCT05769621 · Checked 11 October 2026

Trials overseas

7 trials for this disease are open to new participants outside Australia, as ClinicalTrials.gov listed them on 11 October 2026. Voxsanity does not publish a page for any of them; the searches below reach them at the registry.

These overseas counts are likely too high. They come from the registry’s own search, which expands a condition name to related conditions, so some of the trials counted are for a different disease in the same family.

Trials not shown here

Some Australian trials are registered only on the Australian New Zealand Clinical Trials Registry and are not shown here. Search them at Australian Clinical Trials.

Key facts

Inheritance Autosomal recessive
Genes PCCA, PCCB
Prevalence 1-9 / 1 000 000 (Point prevalence, Europe, Validated)
Age of onset Infancy; Neonatal

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com).

About Propionic Acidaemia

The text below is reproduced exactly as its source published it. It has not been edited, shortened or rewritten.

Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.

US source; availability in Australia may differ.

Source: MedlinePlus Genetics (medlineplus.gov), public domain (U.S. National Library of Medicine). Read the full source.

Sources and dates

  • ClinicalTrials.gov – trial records, statuses and site lists
  • MedlinePlus – the About text above, reproduced exactly
  • Orphanet / Orphadata – prevalence, age of onset, inheritance, genes and alternative names, used under CC BY 4.0
  • ClinicalTrials.gov processing date: 5 February 2026.
  • This page last checked by Voxsanity: 11 October 2026.

Voxsanity reformats data from public registries into this layout. It does not edit, interpret or add to what the registry published.

Not medical advice.

Individual trial records are refreshed on a rolling basis rather than all at once, so a record may be up to several weeks old. Each trial page and trial card shows the date its own record was last synced. Where a record has lagged, its status, sites and enrolment can differ from the current registry state in either direction, so check the registry link on the trial page before acting on them.

Orphanet citation

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com). Accessed 20 September 2026.

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