Overview
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
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 mol/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