AAV Gene Therapy Study for Subjects With PKU

Purpose

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.

Condition

  • Phenylketonuria (PKU)

Eligibility

Eligible Ages
Over 15 Years
Eligible Genders
All
Accepts Healthy Volunteers
No

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

Phase
Phase 1/Phase 2
Study Type
Interventional
Allocation
Non-Randomized
Intervention Model
Sequential Assignment
Primary Purpose
Treatment
Masking
None (Open Label)

Arm Groups

ArmDescriptionAssigned Intervention
Experimental
Dose 1 of BMN 307
  • Drug: BMN 307
    AAV Gene Therapy Infusion
Experimental
Dose 2 of BMN 307
  • Drug: BMN 307
    AAV Gene Therapy Infusion
Experimental
Dose 3 of BMN 307
  • Drug: BMN 307
    AAV Gene Therapy Infusion

More Details

Status
Active, not recruiting
Sponsor
BioMarin Pharmaceutical

Study Contact