AAV Gene Therapy Study for Subjects With PKU

• Status: Active, not recruiting
• Trial end date: 2027-12-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: BioMarin Pharmaceutical

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