AAV Gene Therapy Study for Subjects with PKU
- Registration Number
- NCT04480567
- Lead Sponsor
- BioMarin Pharmaceutical
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ACTIVE_NOT_RECRUITING
- Sex
- All
- Target Recruitment
- 100
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
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SEQUENTIAL
- Arm && Interventions
Group Intervention Description Dose 1 of BMN 307 BMN 307 - Dose 2 of BMN 307 BMN 307 - Dose 3 of BMN 307 BMN 307 -
- Primary Outcome Measures
Name Time Method Change from baseline in mean Plasma Phe levels baseline, week 12
- Secondary Outcome Measures
Name Time Method 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
Trial Locations
- 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