Back to resultsAAV Gene Therapy Study for Subjects With PKU
Primary Purpose
Phenylketonuria (PKU)
Status
Active
Phase
Phase 1
Locations
International
Study Type
Interventional
Intervention
BMN 307
Sponsored by
About this trial
This is an interventional treatment trial for Phenylketonuria (PKU) focused on measuring PKU, PAH Deficiency
Eligibility Criteria
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
Sites / Locations
- University of South Florida
- Morristown Medical Center
- University of Texas Health Science Center - Houston
- University Hospital Birmingham NHS Foundation Trust
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm Type
Experimental
Experimental
Experimental
Arm Label
Dose 1 of BMN 307
Dose 2 of BMN 307
Dose 3 of BMN 307
Arm Description
Outcomes
Primary Outcome Measures
Change from baseline in mean Plasma Phe levels
Secondary Outcome Measures
Change from baseline in mean Plasma Phe levels
Change from baseline in dietary protein intake from intact food
Number of participants with treatment-emergent adverse event
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT04480567
Brief Title
AAV Gene Therapy Study for Subjects With PKU
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
Study Type
Interventional
2. Study Status
Record Verification Date
October 2021
Overall Recruitment Status
Active, not recruiting
Study Start Date
September 24, 2020 (Actual)
Primary Completion Date
December 2027 (Anticipated)
Study Completion Date
December 2027 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
BioMarin Pharmaceutical
4. Oversight
Studies a U.S. FDA-regulated Drug Product
Yes
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes
5. Study Description
Brief 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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Phenylketonuria (PKU)
Keywords
PKU, PAH Deficiency
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 1, Phase 2
Interventional Study Model
Sequential Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
100 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Dose 1 of BMN 307
Arm Type
Experimental
Arm Title
Dose 2 of BMN 307
Arm Type
Experimental
Arm Title
Dose 3 of BMN 307
Arm Type
Experimental
Intervention Type
Drug
Intervention Name(s)
BMN 307
Intervention Description
AAV Gene Therapy Infusion
Primary Outcome Measure Information:
Title
Change from baseline in mean Plasma Phe levels
Time Frame
baseline, week 12
Secondary Outcome Measure Information:
Title
Change from baseline in mean Plasma Phe levels
Time Frame
baseline, week 96
Title
Change from baseline in dietary protein intake from intact food
Time Frame
baseline, week 96
Title
Number of participants with treatment-emergent adverse event
Time Frame
At 5 years
10. Eligibility
Sex
All
Minimum Age & Unit of Time
15 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Medical Director, MD
Organizational Affiliation
BioMarin Pharmaceutical
Official's Role
Study Director
Facility Information:
Facility Name
University of South Florida
City
Tampa
State/Province
Florida
ZIP/Postal Code
33606
Country
United States
Facility Name
Morristown Medical Center
City
Morristown
State/Province
New Jersey
ZIP/Postal Code
07960
Country
United States
Facility Name
University of Texas Health Science Center - Houston
City
Houston
State/Province
Texas
ZIP/Postal Code
77030
Country
United States
Facility Name
University Hospital Birmingham NHS Foundation Trust
City
Birmingham
ZIP/Postal Code
B15 2TH
Country
United Kingdom
12. IPD Sharing Statement
Learn more about this trial
AAV Gene Therapy Study for Subjects With PKU
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