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ACTIVE_NOT_RECRUITINGPHASE1/PHASE2

AAV Gene Therapy Study for Subjects with PKU

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

NCT04480567•BioMarin Pharmaceutical

View on ClinicalTrials.gov

Summary

This is a Phase 1/2, open-label, dose escalation study to evaluate the safety, efficacy and tolerability of BMN 307 in adult PKU subjects with PAH deficiency. Participants will receive a single administration of BMN 307 and will be followed for safety and efficacy.

Eligibility

Age

15 - No limit years

Sex

ALL

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 to abstain from hepatotoxic substances post-BMN 307 administration
•Willingness and capable per investigator opinion to comply with study procedures and requirements
•Willingness to use effective methods of contraception
•Plasma Phe levels \> 600 µmol/L

Exclusion Criteria

•Subjects with primary BH4 deficiency or other forms of BH4 metabolism deficiency
•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
•History of malignancy

Locations (3)

University of South Florida

Tampa, Florida, United States

Morristown Medical Center

Morristown, New Jersey, United States

University Hospital Birmingham NHS Foundation Trust

Birmingham, United Kingdom

Key Dates

Start Date

September 24, 2020

Primary Completion Date

December 1, 2027

Completion Date

December 1, 2027

Last Updated

December 12, 2024

Enrollment

100

ESTIMATED participants

Conditions

Phenylketonuria (PKU)

Interventions

BMN 307

DRUG

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NCT05270837

Phenylketonuria (PKU)

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NOT_YET_RECRUITINGPHASE3

A Study to Evaluate the Long-Term Safety and Efficacy of JNT-517 in Participants With Phenylketonuria

NCT06628128

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COMPLETEDPHASE2

Iron Supplements Effect on B-Phe Levels in PKU Patients During 3 Years Study

Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: December 12, 2024Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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AAV Gene Therapy Study for Subjects with PKU

Inclusion Criteria

Exclusion Criteria

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

A Study to Evaluate the Long-Term Safety and Efficacy of JNT-517 in Participants With Phenylketonuria

Iron Supplements Effect on B-Phe Levels in PKU Patients During 3 Years Study

PANDA: PKU Amino Acid Evaluation

Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency

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