AAV Gene Therapy Study for Subjects with PKU

NCT04480567 · tracked via the Priya Life Science UK tracker

Sponsor

BioMarin Pharmaceutical

Phase

Phase 1/2

Started

2020-09-24

Last updated

2024-12-12

Condition(s) studied

Phenylketonuria (PKU)

Investigational drug(s) / intervention(s)

BMN 307

BMN 307: AAV Gene Therapy Infusion

Study 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.

Eligibility

Sex

ALL

Min age

15 Years

Max age

—

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

Primary outcome measure(s)

Change from baseline in mean Plasma Phe levels — baseline, week 12

Trial sites (3)

Facility	City	Region
University of South Florida	Tampa	Florida
Morristown Medical Center	Morristown	New Jersey
University Hospital Birmingham NHS Foundation Trust	Birmingham	United Kingdom

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Other trials for the same condition

A Self-test Home-use Blood Phenylalanine Monitoring System Under the Brand Name Egoo Phe System Has Been Developed for Measurement of Phenylalanine (Phe) in Individuals Diagnosed With Phenylketonuria (PKU): The Study Purpose is to Evaluate Accuracy and Usability Enrolling by invitation

A Study of MZE782 in Adults With PKU Recruiting

PKU Microtablets Case Studies Starting soon

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04480567 on ClinicalTrials.gov ↗ ← All trials in the UK