AAV Gene Therapy Study for Subjects with PKU

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

Status

Active, not recruiting

Phases

Phase 1Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT04480567

Enrollment

100

Registered

2020-07-21

Start date

2020-09-24

Completion date

2027-12-31

Last updated

2024-12-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Phenylketonuria (PKU)

Keywords

PKU, PAH Deficiency

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.

Interventions

DRUGBMN 307

AAV Gene Therapy Infusion

Study design

Allocation

NON_RANDOMIZED

Intervention model

SEQUENTIAL

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

15 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
Change from baseline in mean Plasma Phe levels	baseline, week 12

Secondary

Measure	Time frame
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

Countries

United Kingdom, United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026