Condition (MeSH)
Phenylketonurias
ClinicalTrials.gov lists 189 trials for Phenylketonurias or a narrower condition beneath it. BioMarin Pharmaceutical has the most among industry and government lead sponsors, with 36.
Search trials, drugs, companies and investigators, and follow each one to the others. Individual plan, $249/seat/mo. Card required.
Trials per phase (log scale)
1 more section with rows
188 of the 189 trials are tagged with Phenylketonurias itself; the rest are tagged with a narrower condition beneath it.
When did Phenylketonurias trials start? (24)
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. 1 trial is registered to start in 2027 or later, and not listed here.
Trials over time, by phase
- Phase 1
- Phase 1/2
- Phase 2
- Phase 3
- Phase 4
- Not applicable
- Observational
Top of scale: 21
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.
| Year | Trials started |
|---|---|
| 2026 (partial year) | 13 |
| 2025 | 15 |
| 2024 | 9 |
| 2023 | 11 |
| 2022 | 11 |
| 2021 | 12 |
| 2020 | 10 |
| 2019 | 21 |
| 2018 | 8 |
| 2017 | 6 |
Showing 10 of 24 earlier years.
Forecast of the full-year count, planned starts included, not rows of this table: about 15 trials starting in 2026 and about 14 in 2027, the average of the 24 months through September, counted as registered and carried forward. The rows of this table count trials registered so far with a start date in the year, planned starts included; the forecast looks ahead to the count for the whole year, so it is not the same measure. In backtests on conditions of this size, forecasts made part-way through the year were typically off by about 28 percent and ran about 20 percent low against the count later registered; forecasts made before the year began were off by about 39 percent and ran about 37 percent low against the count later registered. These figures rest on a few years of history (target years from 2018 to 2025, varying by figure), place each condition as it is mapped today rather than as it was then, and score against a count for the newest year that was still being revised. Only condition series were scored.
Prediction, not a registry value: median of 35 months from start to primary completion across 16 trials still running at the 2026-10-09 snapshot; registered median of 24 months across 124 trials with a primary completion typed Actual. Source: ClinicalTrials.gov / AACT (CTTI), public domain.
What phase are Phenylketonurias trials in? (9)
Shown in this order: phase order.
Show the trials by phase as a table
| Phase | Trials |
|---|---|
| Phase 1 | 17 |
| Phase 1/2 | 10 |
| Phase 2 | 16 |
| Phase 2/3 | 1 |
| Phase 3 | 18 |
| Phase 4 | 9 |
| Not applicable | 54 |
| Observational | 63 |
| Expanded access | 1 |
How many Phenylketonurias trials are recruiting? (9)
Shown in this order: the order a trial moves through, from not yet recruiting to unknown.
| Status | Trials |
|---|---|
| Not yet recruiting | 5 |
| Recruiting | 30 |
| Enrolling by invitation | 3 |
| Active, not recruiting | 7 |
| Completed | 111 |
Showing 5 of 9 statuses.
Status as registered on ClinicalTrials.gov. Each trial is counted once.
Which lead sponsors run the most Phenylketonurias trials? (8)
Shown in this order: most trials first. Lead sponsors the registry classes as industry, NIH, US federal, other government or network. A hospital or university the registry files as government can appear here. Sponsors it classes as academic or other are shown on the full page, because that class cannot separate an institution from a named investigator.
| Sponsor | Trials |
|---|---|
| BioMarin Pharmaceutical | 36 |
| Vitaflo International, Ltd | 11 |
| Nutricia UK Ltd | 6 |
| Otsuka Pharmaceutical Development & Commercialization, Inc. | 6 |
| Homology Medicines, Inc | 4 |
Showing 5 of 8 sponsors.
Which drugs are being tested for Phenylketonurias? (3)
Shown in this order: most trials first. One row per drug, matched to a single molecule under all its names, ranked by number of trials.
| Drug | Trials |
|---|---|
| Pegvaliase | 11 |
| Repinatrabit | 6 |
| PTC923 | 5 |
Interventions as named in the registry (12)
Shown in this order: most trials first.
| Drug | Trials |
|---|---|
| saproterin dihydrochloride | 37 |
| rAvPAL-PEG | 3 |
| SYNB1618 | 2 |
| Diet | 2 |
| HD- Methotrexate (MTX) | 2 |
Showing 5 of 12 interventions.
These are the names sponsors entered on ClinicalTrials.gov that we have not matched to a single molecule. Some are drugs under a brand or code name; others are procedures, doses or arm labels.
Which serious adverse events do Phenylketonurias trials report? (10)
Shown in this order: most subjects affected first. Subjects affected summed across trials, a cross-trial signal, not a rate.
| Adverse event | Subjects affected | Trials |
|---|---|---|
| Anaphylactic reaction | 12 | 4 |
| Hypersensitivity | 9 | 4 |
| Blood creatine phosphokinase increased | 6 | 3 |
| Anaphylactic Reaction | 5 | 1 |
| Animal bite | 3 | 1 |
Showing 5 of 10 adverse events.
Which publications cover Phenylketonurias? (150)
Shown in this order: major-topic papers first, then newest, then most linked to trials.
| Publication | Journal | Year | Major topic |
|---|---|---|---|
| Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial. | Journal of comparative effectiveness research | 2026 | Yes |
| Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study. | Molecular genetics and metabolism | 2026 | Yes |
| Bone mineral density in French adults with early-treated phenylketonuria. | Molecular genetics and metabolism | 2025 | Yes |
| European guidelines on diagnosis and treatment of phenylketonuria: First revision. | Molecular genetics and metabolism | 2025 | Yes |
| Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial. | The American journal of clinical nutrition | 2024 | Yes |
Showing 5 of 150 publications.
Prevalence (309)
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.
| Orphanet disease | Type | Class | Geography | Jurisdiction | Mapping relation |
|---|---|---|---|---|---|
| Phenylketonuria | Point prevalence | 1-5 / 10 000 | United Kingdom | GB | Exact |
| Phenylketonuria | Prevalence at birth | 1-9 / 100 000 | United Kingdom | GB | Unspecified |
| Phenylketonuria | Prevalence at birth | 1-9 / 100 000 | United Kingdom | GB | Exact |
| Phenylketonuria | Point prevalence | 1-5 / 10 000 | United Kingdom | GB | Unspecified |
| Phenylketonuria | Prevalence at birth | 1-9 / 100 000 | United Kingdom | GB | Exact |
Showing 5 of 309 prevalence observations.
Rare-disease identity (2)
Shown in this order: exact, broader, narrower, other.
| Orphanet disease | ORPHA code | Relation | Source |
|---|---|---|---|
| Phenylketonuria | 716 | Exact | Orphanet Rare Disease Ontology (ORDO) |
| Phenylketonuria | 716 | Exact | Orphadata Science knowledge files, Product 1 |
Sub-conditions in MeSH (1)
MeSH descendants one level down with at least one trial, most trials first.
Not on this page
Not measured: delivery record.