Disease · MONDO_0009861

phenylketonuria

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. phenylketonuria. Diseases, record MONDO_0009861. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009861

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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: phenylketonuria; Open Targets
Open Targets ID: MONDO_0009861; Open Targets
Other names: PAH deficiency, PKU, hyperphenylalaninemia, non-PKU mild, phenylalanine hydroxylase deficiency; Open Targets
Disease Ontology: DOID:9281; Disease Ontology
MeSH: D010661; MeSH
NCI Thesaurus: C81315; NCI Thesaurus
Orphanet: ORPHA:716; Orphanet
Highest stage of its drugs: Approval, for 4 of its 8 drugs, from ClinicalTrials.gov, DailyMed, EMA Human Drugs, FDA, PMDA and TTD; Open Targets

Drugs8

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
SAPROPTERIN DIHYDROCHLORIDE	CHEMBL1201775	Small molecule	Approval	ClinicalTrials.gov and DailyMed	18	17	17	Drugs and targets
PEGVALIASE	CHEMBL4297802	Enzyme	Approval	DailyMed, EMA Human Drugs, FDA, PMDA and TTD	19	14	13	Drugs and targets
SAPROPTERIN	CHEMBL1201774	Small molecule	Approval	EMA Human Drugs	10	8	8	Drugs and targets
SEPIAPTERIN	CHEMBL1255653	Small molecule	Approval	EMA Human Drugs	7	4	4	Drugs and targets
LABAFENOGENE MARSELECOBAC	CHEMBL5314748	Gene	Phase 3	TTD	3	1	1	Drugs and targets
AMMONIA SOLUTION, STRONG	CHEMBL1160819	Small molecule	Phase 2	ClinicalTrials.gov	1	1	0	Drugs and targets
PHENYLALANINE	CHEMBL301523	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
BEVUFENOGENE NOFEPARVOVEC	CHEMBL5095446	Gene	Phase 1/2	TTD	2	0	0	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
PAH	Phenylalanine-4-hydroxylase	2	Phenylalanine-4-hydroxylase activator	Approval	https://conductscience.org/library/genes/5053

Source Drugs and targets

Trials44

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
NCT01819727	An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165	Phase 3	261	2018-09-10	Phenylketonuria	PEGVALIASE	Its record names the disease	ClinicalTrials.gov
NCT01889862	Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU	Phase 3	215	2019-07-12	Phenylketonuria (PKU)	PEGVALIASE	Its record names the disease	ClinicalTrials.gov
NCT05099640	A Study of PTC923 in Participants With Phenylketonuria	Phase 3	157	2024-01-10	Phenylketonuria	SEPIAPTERIN	Its record names the disease	ClinicalTrials.gov
NCT00332189	Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006	Phase 3	111	2012-11-16	Phenylketonuria	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT00838435	Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU	Phase 3	95	2020-12-22	Phenylketonuria	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT01732471	Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria	Phase 3	90	2014-07-28	Phenylketonuria	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT00104247	Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels	Phase 3	89	2009-04-16	Phenylketonurias	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT00924703	Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003)	Phase 2	68	2021-10-12	Phenylketonuria	PEGVALIASE	Its record names the disease	ClinicalTrials.gov
NCT01082328	Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period	Phase 4	59	2013-08-01	Phenylketonuria	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT00688844	Nutritional and Neurotransmitter Changes in PKU Subjects on BH4		58	2014-08-20	Phenylketonuria	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov

1 to 10 of 44

See all 44 trials

Comparisons in its trials7

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
BMN 165, 20mg/Day vs BMN 165, 40mg/Day: Number of Participants With Hypersensitivity Adverse Reaction	111 of 131	119 of 130	261	NCT01819727	Trial comparisons
BMN 165, 20mg/Day vs BMN 165, 40mg/Day: deaths from any cause	1 of 131	0 of 130	261	NCT01819727	Trial comparisons
BMN 165, 20mg/Day vs BMN 165, 40mg/Day: serious adverse events	7 of 131	19 of 130	261	NCT01819727	Trial comparisons
Sapropterin Dihydrochloride vs Placebo: serious adverse events	0 of 41	0 of 47	88	NCT00104247	Trial comparisons
Kuvan® + Phe-restricted Diet vs Phe-restricted Diet: serious adverse events	3 of 27	1 of 27	54	NCT01376908	Trial comparisons
Sapropterin Dihydrochloride vs Placebo: serious adverse events	0 of 33	0 of 12	45	NCT00272792	Trial comparisons
Sapropterin vs Placebo: serious adverse events	0 of 1	0 of 1	2	NCT01977820	Trial comparisons

Papers from its trials21

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
27513937	RESULT	1	PubMed
24043380	RESULT	1	PubMed
23928118	RESULT	1	PubMed
23608077	RESULT	1	PubMed
23006929	RESULT	1	PubMed
43012090	DERIVED	1	PubMed
41537382	DERIVED	1	PubMed
41363942	DERIVED	1	PubMed
40411344	DERIVED	3	PubMed
39368841	DERIVED	1	PubMed

1 to 10 of 21

See all 21 papers from its trials

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_0009861

GET https://conductscience.org/api/diseases/v1/MONDO_0009861/trials?page=2

API reference For AI assistants