A Prospective Clinical Study of Phenylketonuria (PKU)

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04452513

Enrollment

Registered

2020-06-30

Start date

2019-10-11

Completion date

2022-06-02

Last updated

2023-03-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Phenylketonurias

Keywords

PKU, Phenylketonuria, PAH Deficiency

Brief summary

This is a study for adults and children ≥ 14 years old who have Phenylketonuria (PKU) with uncontrolled plasma Phe levels. No clinical intervention or study drug is provided by BioMarin in this study.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

14 Years to No maximum

Healthy volunteers

Inclusion criteria

* Male and female subjects with diagnosis of PKU which is a condition characterized by PAH deficiency * Ability and willingness to maintain dietary protein intake consistent with baseline intake * Willingness and capable per investigator opinion to comply with study procedures and requirements * Plasma Phe Levels \> 600umol/L

Exclusion criteria

* Clinically significant liver dysfunction or disease * Prior treatment with gene therapy * Any condition that, in the opinion of the investigator or Sponsor, would prevent the subject from fully complying with the requirements of the study

Design outcomes

Primary

Measure	Time frame
Change in Plasma Phe Levels	through study completion, an average of 2 years

Secondary

Measure	Time frame
Change in dietary protein intake from medical and intact food	through study completion, an average of 2 years

Countries

United States

Outcome results