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

BioMarin Pharmaceutical3 sites in 2 countries100 target enrollmentSeptember 24, 2020

ConditionsPhenylketonuria (PKU)

InterventionsBMN 307

DrugsBMN 307

Overview

Phase: Phase 1
Intervention: BMN 307
Conditions: Phenylketonuria (PKU)
Sponsor: BioMarin Pharmaceutical
Enrollment: 100
Locations: 3
Primary Endpoint: Change from baseline in mean Plasma Phe levels
Status: Active, not recruiting
Last Updated: last year

Overview Investigators Eligibility Criteria Arms & Interventions Outcomes Sites Similar Trials

Overview

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 administration of BMN 307 and will be followed for safety and efficacy.

Registry

clinicaltrials.gov

Start Date

September 24, 2020

End Date

December 2027

Last Updated

last year

Study Type

Interventional

Study Design

Sequential

Sex

All

Investigators

Sponsor

BioMarin Pharmaceutical

Responsible Party

Sponsor

Eligibility Criteria

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

Arms & Interventions

Dose 1 of BMN 307

Intervention: BMN 307

Dose 2 of BMN 307

Intervention: BMN 307

Dose 3 of BMN 307

Intervention: BMN 307

Outcomes

Primary Outcomes

Change from baseline in mean Plasma Phe levels

Time Frame: baseline, week 12

Secondary Outcomes

Change from baseline in mean Plasma Phe levels(baseline, week 96)
Change from baseline in dietary protein intake from intact food(baseline, week 96)
Number of participants with treatment-emergent adverse event(At 5 years)