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Completed

NCT Number: NCT04452513

A Prospective Clinical Study of Phenylketonuria (PKU)

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.

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Key information

Conditions

Phenylketonurias Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

14 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Hosptial of Colorado, Aurora, Colorado, United States

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Change in Plasma Phe Levels

    Time frame: through study completion, an average of 2 years

Secondary outcomes

  1. Change in dietary protein intake from medical and intact food

    Time frame: through study completion, an average of 2 years

Sponsors and collaborators

Lead sponsor

BioMarin Pharmaceutical

Industry

Registry information

Important dates

Study start
2019
Primary completion
2022
Study completion
2022
First posted
Jun 30, 2020
Registry last updated
Mar 14, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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