AAV Gene Therapy Study for Subjects with PKU

Phase 1

Active, not recruiting

• Conditions: Phenylketonuria (PKU)
• Interventions: Drug: BMN 307

• 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

Study Timeline

• Study First Submitted: 2020-07-08
• Study First Submitted QC: 2020-07-20
• Study First Posted: 2020-07-21
• Study Start: 2020-09-24
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-09
• Last Update Posted: 2024-12-12
• Primary Completion: 2027-12
• Study Completion: 2027-12

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

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