PKU Clinical Trials

Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH).

Learn about our PKU clinical trials below.

BMN 307

Studies

Study 307-201 Active, Not Recruiting

A Phase 1/2 Open-Label, Dose Escalation Study to Determine the Safety and Efficacy of BMN 307, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Phenylalanine Hydroxylase in Subjects with Phenylketonuria and Plasma Phe Levels > 600 µmol/L

Indication

Phenylketonuria (PKU)

Goal

This open label, two part study aims to establish dose and efficacy, safety, and tolerability of BMN 307

Investigational therapeutic

BMN 307

Status

Active, Not Recruiting

Study Type

Phase 1/ 2

Study 307-902 Active, Not Recruiting

A Prospective Clinical Study of Phenylketonuria (PKU)

Indication

Phenylketonuria (PKU)

Goal

The objective of this study is to collect longitudinal data assessing markers of disease and clinical outcomes in PKU subjects ≥ 14 years old.

Status

Active, Not Recruiting

Study Type

Observational

Pegvaliase

Studies

Study 165-508 Recruiting

A Multicentre, Observational Study to Evaluate the Real-World Outcomes of Pegvaliase (BMN 165) in Subjects with Phenylketonuria in Germany

Indication

Phenylketonuria (PKU)

Goal

In addition to the efficacy and safety profile of pegvaliase that has been established in clinical trials; there remains an important need to provide data to prescribers and the phenylketonuria (PKU) community on the real-world usage of pegvaliase, and associated outcomes, to support clinical practice optimization and provide greater understanding of important clinical issues in PKU

Investigational therapeutic

Pegvaliase (BMN 165)

Status

This study is currently recruiting participants

Study Type

Phase 4

Study 165-306 Recruiting

A Phase 3 Multi Center Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase in Adolescent Subjects (Ages 12-17) with Phenylketonuria Featuring an Open Label Randomized Two Arm (Active vs Diet Only Control) Design

Indication

Phenylketonuria (PKU)

Goal

Evaluate safety and efficacy of Pegvaliase (BMN 165) in adolescents with PKU when administered as an Induction/Titration and Maintenance dose regimen.

Investigational therapeutic

Pegvaliase (BMN 165)

Status

This study is currently recruiting participants

Study Type

Phase 3

Study 165-305 Active, Not Recruiting

A Phase 3, Open-Label, Multi-Center Study to Assess the Safety and Efficacy of Pegvaliase (BMN 165) in Japanese Subjects 18 Years of Age and Older With Phenylketonuria

Indication

Phenylketonuria (PKU)

Goal

The primary objective of the study is to evaluate the efficacy and safety of Pegvaliase (BMN 165) in Japanese subjects ≥ 18 years of age with PKU when administered as an Induction/Titration and Maintenance dose regimen.

Investigational therapeutic

Pegvaliase (BMN 165)

Status

This study is ongoing, but not recruiting participants.

Study Type

Phase 3

Study 165-304 Complete

An Open-label Extension Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase (> 40mg/day Dose) in Adults with Phenylketonuria.

Indication

Phenylketonuria (PKU)

Goal

Evaluate long-term safety and efficacy of Pegvaliase in (> 40mg/day dose) in adults with PKU

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

Phase 3

Study Type

This study has been completed

Study 165-302 Complete

A Four-Part, Phase 3, Randomized, Double-Blind, Placebo-Controlled, Four-Arm, Discontinuation Study to Evaluate the Efficacy and Safety of Subcutaneous Injections of BMN 165 Self Administered by Adults with Phenylketonuria

Indication

Phenylketonuria (PKU)

Goal

The BMN 165 clinical development program has been designed to demonstrate the safety and efficacy of BMN 165 in reducing blood Phe concentrations in adults with PKU

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 3

Study PAL-003 Complete

Long-term Extension of a Phase 2, Open-Label Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects with PKU

Indication

Phenylketonuria (PKU)

Goal

Evaluate the long-term safety, tolerability and effectiveness of injections of an investigational drug for people with PKU who have trouble controlling and maintaining their Phe levels

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 2

Study 165-205 Complete

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

Indication

Phenylketonuria (PKU)

Goal

Evaluate the effect of dosing regimens of multiple subcutaneous (SC) doses of rAvPAL-PEG to induce an early and sustained Phe reduction while decreasing the frequency and severity of hypersensitivity reactions in patients with PKU

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 2

Study PAL-004 Complete

A Phase 2, Open-Label Study to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Dose Levels of Ravpal-PEG Administered Daily in Subjects with Phenylketonuria

Indication

Phenylketonuria (PKU)

Goal

Evaluate the effect of daily administration of rAvPAL-PEG on the reduction of blood Phe concentrations in subjects with PKU

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 2

Study 165-301 Complete

A Phase 3, Open-Label, Randomized, Multi-Center Study to Assess the Safety and Tolerability of an Induction, Titration, and Maintenance Dose Regimen of Pegvaliase Self-Administered by Adults with Phenylketonuria Not Previously Treated with Pegvaliase

Indication

Phenylketonuria (PKU)

Goal

Evaluate the safety and tolerability of injections of an investigational drug (also called PEG PAL) for people with PKU who have not received Pegvaliase in the past

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 3

Sapropterin dihydrochloride (BMN 162)

Studies

Study KOGNITO – 162-502 Complete

Sapropterin dihydrochloride’s (BMN 162) Effect on the Cognition of Children With Phenylketonuria

Indication

Phenylketonuria (PKU)

Goal

A Phase IV Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5-Year-Old Children with Phenylketonuria Treated with Sapropterin Dihydrochloride (BMN 162) for 7 Years

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 4

Study KAMPER – 162-501 Complete

Observational Study on the Long-Term Safety of Sapropterin dihydrochloride (BMN 162) Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency (KAMPER)

Indication

Phenylketonuria (PKU)

Goal

Assess the long-term safety in subjects treated with Sapropterin dihydrochloride (BMN 162)

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase IV, Observational

Study PKUDOS Complete

Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry

Indication

Phenylketonuria (PKU), Hyperphenylalaninaemia

Goal

Evaluate the safety of long-term treatment with Sapropterin dihydrochloride (BMN 162)

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase IV, Observational

Study SPARK – 162-503 Complete

Sapropterin dihydrochloride (BMN 162) in Phenylketonuria Patients Less Than 4 Years Old

Indication

Phenylketonuria (PKU)

Goal

Evaluate the efficacy after 26 weeks of Sapropterin dihydrochloride (BMN 162) treatment + Phe-restricted diet therapy in increasing dietary Phe tolerance, as compared to dietary therapy alone in =120 to <360 μmol/L).

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 3b

Study 162-015 Complete

Phase 3b Open-Label Study to Evaluate the Effect of Sapropterin dihydrochloride (BMN 162) on Neurocognitive Function, Maintenance of Blood Phenylalanine Concentrations, Safety, and Population Pharmacokinetics in Young Children with Phenylketonuria

Indication

Phenylketonuria (PKU)

Goal

Primary Objective – To evaluate the long-term efficacy of Sapropterin dihydrochloride (BMN 162) in preserving neurocognitive function in children with phenylketonuria (PKU) when treatment is initiated at 0 to 6 years of age at date of screening. Secondary Objectives – To evaluate the long-term safety of Sapropterin dihydrochloride (BMN 162) in the study population – To evaluate the effect of Sapropterin dihydrochloride (BMN 162) on growth parameters in the study population

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 4

Study PKU-003 Complete

Study to Evaluate the Safety and Efficacy of Sapropterin Dihydrochloride (BMN 162) in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Indication

Phenylketonuria (PKU)

Goal

Evaluate the efficacy of Sapropterin dihydrochloride (BMN 162) in reducing blood phenylalanine (Phe) levels in subjects with phenylketonuria

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 3

Study PKU-016 Complete

A Double-blind, Placebo-controlled, Randomized Study to Evaluate the Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Subjects with Phenylketonuria

Indication

Phenylketonuria (PKU)

Goal

Evaluate the safety and therapeutic effects of sapropterin dihydrochloride on neuropsychiatric symptoms in subjects with PKU

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 3