Phenylketonuria

Rare Diseases
24
Pipeline Programs
5
Companies
32
Clinical Trials
2 recruiting
3
Approved Products

Pipeline by Development Stage

Preclinical
Phase 1
Phase 1/2
Phase 2
Phase 2/3
Phase 3
On Market
0
2
2
5
0
8
7
Early DiscoveryClinical DevelopmentMarket

Drug Modality Breakdown

RNA Therapeutic
1100%
+ 30 programs with unclassified modality

On Market (3)

Approved therapies currently available

BioMarin Pharmaceutical
KUVANApproved
sapropterin dihydrochloride
BioMarin Pharmaceutical
oral2013
PTC Therapeutics
SEPHIENCEApproved
sepiapterin
PTC Therapeutics
oral2025
U
ZELVYSIAApproved
sapropterin dihydrochloride
Unknown Company
oral2025

Competitive Landscape

5 companies ranked by most advanced pipeline stage

BioMarin Pharmaceutical
25 programs
2
5
5
3
Kuvan®Phase 41 trial
RDD to PalynziqPhase 41 trial
saproterin dihydrochloridePhase 41 trial
BMN 165Phase 31 trial
Kuvan®Phase 31 trial
+20 more programs
Active Trials
NCT02468570Completed9Est. Feb 2017
NCT01869972Completed32Est. Dec 2015
NCT00827762Terminated2Est. Jan 2010
+22 more trials
PTC Therapeutics
3 programs
3
1
PTC923Phase 31 trial
PTC923Phase 31 trial
SepiapterinPhase 31 trial
Active Trials
NCT05166161Active Not Recruiting200Est. Jun 2026
NCT05099640Completed157Est. May 2023
NCT06302348Recruiting56Est. Feb 2031
M&
Merck & Co.RAHWAY, NJ
1 program
1
Kuvan®Phase 42 trials
Active Trials
NCT01732471CompletedEst. Oct 2013
NCT01082328Completed59Est. May 2012
Sanofi
SanofiPARIS, France
1 program
1
SAR444836Phase 1/21 trial
Active Trials
NCT05972629Active Not Recruiting32Est. Apr 2030
Moderna
ModernaCAMBRIDGE, MA
1 program
1
mRNA-3210Phase 1/2RNA Therapeutic1 trial
Active Trials
NCT06147856Withdrawn0Est. Aug 2027

Trial Timeline

Clinical trial activity over time

2021
2022
2023
2024
2025
2026
2027
2028
2029
2030
2031
BioMarin PharmaceuticalRDD to Palynziq
BioMarin Pharmaceuticalsaproterin dihydrochloride
BioMarin PharmaceuticalKuvan®
Merck & Co.Kuvan®
PTC TherapeuticsSepiapterin
PTC TherapeuticsPTC923
PTC TherapeuticsPTC923
BioMarin PharmaceuticalBMN 165
Merck & Co.Kuvan®
BioMarin PharmaceuticalKuvan®
BioMarin PharmaceuticalSapropterin dihydrochloride
BioMarin Pharmaceuticalsapropterin dihydrochloride
BioMarin Pharmaceuticalsapropterin dihydrochloride
BioMarin PharmaceuticalSapropterin
BioMarin PharmaceuticalBMN 165

Showing 15 of 31 trials with date data

Clinical Trials (32)

Total enrollment: 3,599 patients across 32 trials

NCT06780332BioMarin PharmaceuticalRDD to Palynziq

Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq

Start: Jan 2025Est. completion: Nov 202510 patients
Phase 4Recruiting
NCT02677870BioMarin Pharmaceuticalsaproterin dihydrochloride

The Effectiveness of Kuvan in Amish PKU Patients

Start: Jan 2018Est. completion: Jan 20197 patients
Phase 4Completed
NCT01965912BioMarin PharmaceuticalKuvan®

Kuvan®'s Effect on the Cognition of Children With Phenylketonuria

Start: Oct 2013Est. completion: Jan 202334 patients
Phase 4Completed
NCT01082328Merck & Co.Kuvan®

Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period

Start: May 2010Est. completion: May 201259 patients
Phase 4Completed
NCT06302348PTC TherapeuticsSepiapterin

A Study of Sepiapterin in Participants With Phenylketonuria (PKU)

Start: Mar 2024Est. completion: Feb 203156 patients
Phase 3Recruiting
NCT05166161PTC TherapeuticsPTC923

A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

Start: Feb 2022Est. completion: Jun 2026200 patients
Phase 3Active Not Recruiting
NCT05099640PTC TherapeuticsPTC923

A Study of PTC923 in Participants With Phenylketonuria

Start: Sep 2021Est. completion: May 2023157 patients
Phase 3Completed
NCT01819727BioMarin PharmaceuticalBMN 165

An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165

Start: May 2013Est. completion: Nov 2015261 patients
Phase 3Completed
NCT01732471Merck & Co.Kuvan®

Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria

Start: Nov 2012Est. completion: Oct 2013
Phase 3Completed
NCT01376908BioMarin PharmaceuticalKuvan®

Kuvan® in Phenylketonuria Patients Less Than 4 Years Old

Start: Jun 2011Est. completion: Feb 201756 patients
Phase 3Completed
NCT01114737BioMarin PharmaceuticalSapropterin dihydrochloride

Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients

Start: Aug 2010Est. completion: Mar 2013206 patients
Phase 3Completed
NCT00838435BioMarin Pharmaceuticalsapropterin dihydrochloride

Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU

Start: Feb 2009Est. completion: Sep 201895 patients
Phase 3Completed
NCT00332189BioMarin Pharmaceuticalsapropterin dihydrochloride

Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006

Start: Jul 2006Est. completion: Aug 2009111 patients
Phase 3Completed
NCT01977820BioMarin PharmaceuticalSapropterin

Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria

Start: Feb 2014Est. completion: Nov 20142 patients
Phase 2Terminated
NCT01560286BioMarin PharmaceuticalBMN 165

A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks

Start: May 2012Est. completion: Jul 201524 patients
Phase 2Completed
NCT01212744BioMarin PharmaceuticalrAvPAL-PEG

Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)

Start: Mar 2011Est. completion: Apr 201516 patients
Phase 2Completed
NCT00924703BioMarin PharmaceuticalrAvPAL-PEG

Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003)

Start: Jan 2010Est. completion: Jan 201968 patients
Phase 2Completed
NCT00925054BioMarin PharmaceuticalrAvPAL-PEG 0.001 mg/kg

Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU

Start: Sep 2009Est. completion: Jun 201540 patients
Phase 2Completed
NCT06147856ModernamRNA-3210

A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria

Start: Mar 2024Est. completion: Aug 20270
Phase 1/2Withdrawn
NCT05972629SanofiSAR444836

A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria

Start: Aug 2023Est. completion: Apr 203032 patients
Phase 1/2Active Not Recruiting
NCT00789568BioMarin Pharmaceuticalsapropterin dihydrochloride

A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects

Start: Oct 2008Est. completion: Oct 200956 patients
Phase 1Completed
NCT00634660BioMarin PharmaceuticalrAvPAL-PEG

Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria

Start: May 2008Est. completion: Oct 200925 patients
Phase 1Completed
NCT00484991BioMarin PharmaceuticalSapropterin dihydrochloride

Sapropterin Expanded Access Program

N/AApproved For Marketing
NCT02468570BioMarin PharmaceuticalAdministration of CANTAB and Subject Global Assessment

A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302

Start: Aug 2015Est. completion: Feb 20179 patients
N/ACompleted
NCT01924026BioMarin PharmaceuticalNeurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study

Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study

Start: Sep 2013Est. completion: Feb 201610 patients
N/ACompleted
NCT01869972BioMarin PharmaceuticalBiological Variation of Phenylalanine in Patients With Hyperphenylalaninemia

Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia

Start: May 2013Est. completion: Dec 201532 patients
N/ACompleted
NCT01274026BioMarin Pharmaceuticalsapropterin dihydrochloride

Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders

Start: Jan 2011Est. completion: Dec 201321 patients
N/ACompleted
NCT00964236BioMarin PharmaceuticalSapropterin

The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)

Start: Aug 2009Est. completion: Aug 201120 patients
N/ACompleted
NCT00827762BioMarin PharmaceuticalKuvan

Behavioral Effects of Kuvan in Children With Mild Phenylketonuria

Start: Jan 2009Est. completion: Jan 20102 patients
N/ATerminated
NCT00688844BioMarin PharmaceuticalKuvanTM Therapy

Nutritional and Neurotransmitter Changes in PKU Subjects on BH4

Start: Oct 2008Est. completion: Oct 201058 patients
N/ACompleted
NCT00778206BioMarin PharmaceuticalKuvan

PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry

Start: Sep 2008Est. completion: Jan 20211,887 patients
N/ACompleted
NCT00730080BioMarin PharmaceuticalSapropterin

Sapropterin in Individuals With Phenylketonuria

Start: Jul 2008Est. completion: May 201845 patients
N/ACompleted

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Phase Legend

Preclinical— Lab & animal studies
Phase 1— Safety & dosing
Phase 2— Efficacy testing
Phase 3— Large-scale trials
On Market— Approved & available

Key Insights

8 late-stage (Phase 3) programs — potential near-term approvals
2 actively recruiting trials targeting 3,599 patients
5 companies competing in this space

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