AAV Gene Therapy Study for Subjects With PKU

October 6, 2021 updated by: BioMarin Pharmaceutical

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

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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

100

Phase

  • Phase 2
  • Phase 1

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United Kingdom
      • Birmingham, United Kingdom, B15 2TH
        • University Hospital Birmingham NHS Foundation Trust
  • United States
    • Florida
      • Tampa, Florida, United States, 33606
        • University of South Florida
    • New Jersey
      • Morristown, New Jersey, United States, 07960
        • Morristown Medical Center
    • Texas
      • Houston, Texas, United States, 77030
        • University of Texas Health Science Center - Houston

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

13 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: Non-Randomized
  • Interventional Model: Sequential Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Change from baseline in mean Plasma Phe levels
Time Frame: baseline, week 12
baseline, week 12

Secondary Outcome Measures

Outcome Measure
Time Frame
Change from baseline in mean Plasma Phe levels
Time Frame: baseline, week 96
baseline, week 96
Change from baseline in dietary protein intake from intact food
Time Frame: baseline, week 96
baseline, week 96
Number of participants with treatment-emergent adverse event
Time Frame: At 5 years
At 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

BioMarin Pharmaceutical

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 24, 2020

Primary Completion (Anticipated)

December 1, 2027

Study Completion (Anticipated)

December 1, 2027

Study Registration Dates

First Submitted

July 8, 2020

First Submitted That Met QC Criteria

July 20, 2020

First Posted (Actual)

July 21, 2020

Study Record Updates

Last Update Posted (Actual)

October 7, 2021

Last Update Submitted That Met QC Criteria

October 6, 2021

Last Verified

October 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 307-201

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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