AAV Gene Therapy Study for Subjects with PKU

BioMarin Pharmaceutical

Status and phase: Active, not recruiting; Phase 2; Phase 1

Conditions: Phenylketonuria (PKU)

Treatments: Drug: BMN 307

Study type: Interventional

Funder types: Industry

Identifiers

NCT04480567

307-201

Details and patient eligibility

About

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.

Enrollment: 100 estimated patients

Sex: All

Ages: 15+ years old

Volunteers: No 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

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Sequential Assignment

Masking: None (Open label)

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100 participants in 3 patient groups

Dose 1 of BMN 307

Experimental group

Treatment:

Drug: BMN 307

Dose 2 of BMN 307

Experimental group

Treatment:

Drug: BMN 307

Dose 3 of BMN 307

Experimental group

Treatment:

Drug: BMN 307