AAV Gene Therapy Study for Subjects With PKU

Phenylketonuria (PKU) Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04480567
• Other study ID #: 307-201
• Status: Active, not recruiting
• Phase: Phase 1/Phase 2
• Start date: September 24, 2020
• Est. completion date: December 2027

Study information

• Verified date: October 2021
• Source: BioMarin Pharmaceutical
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 100
• Est. completion date: December 2027
• Est. primary completion date: December 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: 15 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Phenylketonuria (PKU)
• Phenylketonurias

Intervention

Drug:
• BMN 307
AAV Gene Therapy Infusion

Locations

Country	Name	City	State
United Kingdom	University Hospital Birmingham NHS Foundation Trust	Birmingham
United States	University of Texas Health Science Center - Houston	Houston	Texas
United States	Morristown Medical Center	Morristown	New Jersey
United States	University of South Florida	Tampa	Florida

Sponsors (1)

Lead Sponsor	Collaborator
BioMarin Pharmaceutical

Countries where clinical trial is conducted

United States,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change from baseline in mean Plasma Phe levels		baseline, week 12
Secondary	Change from baseline in mean Plasma Phe levels		baseline, week 96
Secondary	Change from baseline in dietary protein intake from intact food		baseline, week 96
Secondary	Number of participants with treatment-emergent adverse event		At 5 years