Phenylketonuria (PKU)

Rare Diseases
5
Pipeline Programs
1
Companies
8
Clinical Trials
2 recruiting
0
Approved Products

Pipeline by Development Stage

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

Competitive Landscape

1 companies ranked by most advanced pipeline stage

BioMarin Pharmaceutical
8 programs
1
3
1
KuvanPhase 41 trial
BMN165 20mg/dayPhase 31 trial
PegvaliasePhase 31 trial
PegvaliasePhase 31 trial
BMN 307Phase 1/21 trial
+3 more programs
Active Trials
NCT01806051Terminated6Est. May 2014
NCT06305234Recruiting200Est. Nov 2033
NCT05813678Recruiting450Est. Nov 2033
+5 more trials

Trial Timeline

Clinical trial activity over time

2021
2022
2023
2024
2025
2026
2027
2028
2029
2030
2031
BioMarin PharmaceuticalKuvan
BioMarin PharmaceuticalPegvaliase
BioMarin PharmaceuticalPegvaliase
BioMarin PharmaceuticalBMN165 20mg/day
BioMarin PharmaceuticalBMN 307
BioMarin PharmaceuticalPegvaliase
BioMarin PharmaceuticalPegvaliase
BioMarin PharmaceuticalKuvan

Clinical Trials (8)

Total enrollment: 1,073 patients across 8 trials

NCT01617070BioMarin PharmaceuticalKuvan

Effects of Kuvan on Melatonin Secretion

Start: May 2012Est. completion: Dec 201410 patients
Phase 4Completed
NCT05270837BioMarin PharmaceuticalPegvaliase

Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria

Start: Jun 2022Est. completion: Oct 202755 patients
Phase 3Active Not Recruiting
NCT03694353BioMarin PharmaceuticalPegvaliase

Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU

Start: Sep 2018Est. completion: Jan 202137 patients
Phase 3Completed
NCT01889862BioMarin PharmaceuticalBMN165 20mg/day

Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU

Start: Jul 2013Est. completion: Feb 2019215 patients
Phase 3Completed
NCT04480567BioMarin PharmaceuticalBMN 307

AAV Gene Therapy Study for Subjects with PKU

Start: Sep 2020Est. completion: Dec 2027100 patients
Phase 1/2Active Not Recruiting
NCT06305234BioMarin PharmaceuticalPegvaliase

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

Start: Jan 2024Est. completion: Nov 2033200 patients
N/ARecruiting
NCT05813678BioMarin PharmaceuticalPegvaliase

A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)

Start: Jun 2022Est. completion: Nov 2033450 patients
N/ARecruiting
NCT01806051BioMarin PharmaceuticalKuvan

A Pilot Study on Diurnal Variation

Start: Mar 2013Est. completion: May 20146 patients
N/ATerminated

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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

3 late-stage (Phase 3) programs — potential near-term approvals
2 actively recruiting trials targeting 1,073 patients
1 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)