Status:

ACTIVE_NOT_RECRUITING

AAV Gene Therapy Study for Subjects with PKU

Lead Sponsor:

BioMarin Pharmaceutical

Conditions:

Phenylketonuria (PKU)

Eligibility:

All Genders

15+ years

Phase:

PHASE1

PHASE2

Brief 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 admini...

Eligibility Criteria

Inclusion

  • 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

  • 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

Key Trial Info

Start Date :

September 24 2020

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

December 1 2027

Estimated Enrollment :

100 Patients enrolled

Trial Details

Trial ID

NCT04480567

Start Date

September 24 2020

End Date

December 1 2027

Last Update

December 12 2024

Active Locations (3)

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Page 1 of 1 (3 locations)

1

University of South Florida

Tampa, Florida, United States, 33606

2

Morristown Medical Center

Morristown, New Jersey, United States, 07960

3

University Hospital Birmingham NHS Foundation Trust

Birmingham, United Kingdom, B15 2TH