Phenylketonurias

Rare Diseases
8
Pipeline Programs
3
Companies
15
Clinical Trials
3 recruiting
2
Approved Products

Pipeline by Development Stage

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

On Market (2)

Approved therapies currently available

BioMarin Pharmaceutical
KUVANApproved
sapropterin dihydrochloride
BioMarin Pharmaceutical
oral2007
U
ZELVYSIAApproved
sapropterin dihydrochloride
Unknown Company
oral2025

Competitive Landscape

3 companies ranked by most advanced pipeline stage

BioMarin Pharmaceutical
11 programs
1
3
1
Sapropterin DihydrochloridePhase 31 trial
sapropterin dihydrochloridePhase 31 trial
sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterinPhase 31 trial
sapropterin dihydrochloridePhase 21 trial
A Prospective Clinical Study of Phenylketonuria (PKU)N/A1 trial
+6 more programs
Active Trials
NCT04452513Completed32Est. Jun 2022
NCT01209819Completed28Est. Oct 2012
NCT03856203Completed12Est. Oct 2023
+8 more trials
NGGT
NGGTCA - Walnut Creek
2 programs
2
NGGT002Phase 1/21 trial
NGGT002Phase 1/21 trial
Active Trials
NCT06332807Recruiting12Est. Dec 2030
NCT06687733Recruiting18Est. Jul 2031
Alliance Pharmaceuticals
2 programs
PreKUnil® LNAA Medical Food for PKUN/A1 trial
Testing of Four Home Phenylalanine Monitoring Prototype DevicesN/A1 trial
Active Trials
NCT05174559Unknown10Est. Jul 2024
NCT02445521Completed9Est. May 2015

Trial Timeline

Clinical trial activity over time

2021
2022
2023
2024
2025
2026
2027
2028
2029
2030
2031
BioMarin PharmaceuticalSapropterin Dihydrochloride
BioMarin Pharmaceuticalsapropterin dihydrochloride
BioMarin Pharmaceuticalsapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
BioMarin Pharmaceuticalsapropterin dihydrochloride
NGGTNGGT002
NGGTNGGT002
Alliance PharmaceuticalsPreKUnil® LNAA Medical Food for PKU
BioMarin PharmaceuticalPegvaliase-Pqpz
BioMarin PharmaceuticalA Prospective Clinical Study of Phenylketonuria (PKU)
BioMarin PharmaceuticalPalynziq
BioMarin PharmaceuticalNutrition Status of Adults With PKU Before and During Treatment With Pegvaliase
BioMarin PharmaceuticalPegvaliase
BioMarin PharmaceuticalSkin Tape
Alliance PharmaceuticalsTesting of Four Home Phenylalanine Monitoring Prototype Devices
BioMarin PharmaceuticalBone Mineral Density in Adults With Hyperphenylalaninemia

Clinical Trials (15)

Total enrollment: 1,210 patients across 15 trials

NCT00272792BioMarin PharmaceuticalSapropterin Dihydrochloride

Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet

Start: Feb 2006Est. completion: Nov 200645 patients
Phase 3Completed
NCT00225615BioMarin Pharmaceuticalsapropterin dihydrochloride

A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels

Start: Nov 2005Est. completion: Jun 2006100 patients
Phase 3Completed
NCT00104247BioMarin Pharmaceuticalsapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin

Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Start: Mar 2005Est. completion: Feb 200689 patients
Phase 3Completed
NCT00104260BioMarin Pharmaceuticalsapropterin dihydrochloride

Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria

Start: Dec 2004Est. completion: Nov 2005700 patients
Phase 2Completed
NCT06332807NGGTNGGT002

AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)

Start: Jan 2025Est. completion: Dec 203012 patients
Phase 1/2Recruiting
NCT06687733NGGTNGGT002

Safety and Efficacy Study of NGGT002 in cPKU Adult Subjects

Start: Jul 2024Est. completion: Jul 203118 patients
Phase 1/2Recruiting
NCT05174559Alliance PharmaceuticalsPreKUnil® LNAA Medical Food for PKU

Additional Dietary Large Neutral Amino Acids (LNAA) for Improved Symptoms in Adult Classical Phenylktonuria (PKU)

Start: Sep 2023Est. completion: Jul 202410 patients
N/AUnknown
NCT05356377BioMarin PharmaceuticalPegvaliase-Pqpz

Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU

Start: May 2022Est. completion: Jul 20256 patients
N/ACompleted
NCT04452513BioMarin PharmaceuticalA Prospective Clinical Study of Phenylketonuria (PKU)

A Prospective Clinical Study of Phenylketonuria (PKU)

Start: Oct 2019Est. completion: Jun 202232 patients
N/ACompleted
NCT04404530BioMarin PharmaceuticalPalynziq

Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

Start: Oct 2019Est. completion: Dec 202845 patients
N/ARecruiting
NCT03856203BioMarin PharmaceuticalNutrition Status of Adults With PKU Before and During Treatment With Pegvaliase

Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase

Start: Mar 2019Est. completion: Oct 202312 patients
N/ACompleted
NCT03792451BioMarin PharmaceuticalPegvaliase

Nutrition Status of Adults Treated With Pegvaliase

Start: Jan 2019Est. completion: Dec 202018 patients
N/ACompleted
NCT04368624BioMarin PharmaceuticalSkin Tape

PKU Skin Stripping

Start: Oct 2015Est. completion: Apr 202186 patients
N/ACompleted
NCT02445521Alliance PharmaceuticalsTesting of Four Home Phenylalanine Monitoring Prototype Devices

Testing of Four Home Phenylalanine Monitoring Prototype Devices

Start: May 2015Est. completion: May 20159 patients
N/ACompleted
NCT01209819BioMarin PharmaceuticalBone Mineral Density in Adults With Hyperphenylalaninemia

Bone Mineral Density in Adults With Hyperphenylalaninemia

Start: Sep 2010Est. completion: Oct 201228 patients
N/ACompleted

Related Jobs in Rare Diseases

Manager, Gene Therapy Operations (GTO)

Genetix Biotherapeutics
8h ago
From $130K/yr

Manager, Gene Therapy Operations (GTO)

Genetix Biotherapeutics
Somerville, Massachusetts, United States
8h ago

Medical Engagement Manager – Diamyd Medical

Bonesupport
Stockholm, Sweden
Yesterday

Exec. Director, Global Patient Engagement

BioCryst Pharmaceuticals
US_North Carolina_Headquarters
Yesterday

Sr. Director, Regulatory CMC

Genetix Biotherapeutics
Somerville, MA
4d ago
From $270K/yr

Associate Director, Quality Systems

Genetix Biotherapeutics
Somerville, Massachusetts
4d ago
From $165K/yr

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

3 late-stage (Phase 3) programs — potential near-term approvals
3 actively recruiting trials targeting 1,210 patients
3 companies competing in this space

Related Indications

Cystic Fibrosis(244)Hemophilia A(139)Sickle Cell Disease(64)Fabry Disease(55)Duchenne Muscular Dystrophy(53)Hemophilia B(47)Spinal Muscular Atrophy(34)Phenylketonuria(32)Gaucher Disease(29)Severe Hemophilia A(26)