Rare disease
Phenylketonuria
Clinical trials recruiting in Australia for Phenylketonuria, a rare disease, as the public registries list them.
Also called: PKU; Phenylalanine hydroxylase deficiency; PAH deficiency; Folling disease; Folling's disease
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At a glance
4 trials recruiting in Australia
34 trials recruiting overseas
1-5 / 10 000 (Point prevalence, France, Validated) prevalence
Infancy 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.
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Recruiting Phase 3
Phase 3 study for people with Phenylketonuria
Where- Women and Children Hospital, North Adelaide (SA) — Recruiting
- The Royal Children's Hospital, Parkville (VIC) — Recruiting
Who can join Age Up to 9 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor PTC TherapeuticsTimelineStarted 4 March 2024 Today 16 October 2026 Estimated completion 28 February 2031NCT06302348 · Checked 11 October 2026
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Recruiting Phase 3
Phase 3 study for people with Phenylketonuria
Where- Children's Health Queensland - Queensland Children's Hospital, South Brisbane (QLD) — Recruiting
- Mater Health - Mater Hospital Brisbane, South Brisbane (QLD) — Recruiting
- Royal Adelaide Hospital, Adelaide (SA) — Recruiting
- Murdoch Children's Research Institute, Parkville (VIC) — Recruiting
Who can join Age 4 Years and over. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor Otsuka Pharmaceutical Development & Commercialization, Inc.TimelineStarted 11 August 2025 Today 16 October 2026 Estimated completion 1 November 2027NCT06628128 · Checked 11 October 2026
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Recruiting Phase 3
Phase 3 study for people with Phenylketonuria
Where- Royal Adelaide Hospital, Adelaide (SA) — Recruiting
- Royal Melbourne Hospital, Parkville — Recruiting
- Mater Health - Mater Hospital Brisbane, South Brisbane (QLD) — Recruiting
Who can join Age 18 Years and over. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor Otsuka Pharmaceutical Development & Commercialization, Inc.TimelineStarted 20 October 2025 Today 16 October 2026 Estimated completion 1 March 2028NCT06971731 · Checked 11 October 2026
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Recruiting Phase 1
Phase 1 study for people with Phenylketonuria
Where- Nucleus Network, Melbourne (VIC) — Recruiting
Who can join Age 18 Years to 55 Years. Sex Anyone, regardless of sex. Healthy volunteers Accepted.Sponsor Otsuka Pharmaceutical Development & Commercialization, Inc.TimelineStarted 31 March 2026 Today 16 October 2026 Estimated completion 7 November 2026NCT07446400 · Checked 11 October 2026
Trials overseas
34 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.
Search ClinicalTrials.gov Search the WHO registry portal Joining a trial overseas
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
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 Phenylketonuria
The text below is reproduced exactly as its source published it. It has not been edited, shortened or rewritten.
Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early. The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas, and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life. NIH: National Institute of Child Health and Human Development
US source; availability in Australia may differ.
Source: MedlinePlus Health Topics (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: 28 August 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.
Phenylketonuria is one of the rare diseases tracked on the Voxsanity rare disease hub, where you can compare it with every other rare condition we follow and filter trials by country.
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