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

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

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.