A Phase 1/2 study to evaluate the safety and efficacy of BMN 307 gene therapy in patients with phenylketonuria
- Conditions
- PhenylketonuriaMedDRA version: 20.0Level: PTClassification code 10034872Term: PhenylketonuriaSystem Organ Class: 10010331 - Congenital, familial and genetic disordersTherapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
- Registration Number
- EUCTR2019-001878-28-GB
- Lead Sponsor
- BioMarin Pharmaceutical Inc.
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Authorised-recruitment may be ongoing or finished
- Sex
- All
- Target Recruitment
- 100
1. age 15 or 18 years and older at Screening
2. Diagnosis of PKU which is a condition characterized by PAH deficiency
3. Average of two plasma Phe levels > 600 µmol/L during the Screening period
4. Ability and willingness to maintain dietary protein intake consistent with baseline intake for the duration of the study unless otherwise directed.
Are the trial subjects under 18? yes
Number of subjects for this age range: 8
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 100
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range 0
1. Subjects with primary BH4 deficiency or other forms of BH4 metabolism deficiency.
2. Clinically significant liver disease as assessed by ultrasound at Screening.
3. Prior treatment with gene therapy.
4. Detectable antibodies to the AAV5 capsid at Screening.
5. Contraindication to use of corticosteroids (CS) or history of condition that could worsen with CS therapy.
6. Hemoglobin A1C = 8.0% or glucose = 250 mg/dL at Screening.
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Main Objective: - Determine safe, effective, and tolerable dose of BMN 307<br>- Determine the efficacy of a single administration of BMN 307<br>;Secondary Objective: - Determine the efficacy of a single administration of BMN 307 on changing plasma Phe level over time<br>- Assess the change in dietary protein intake post-infusion following a single administration of BMN 307<br>- Assess changes in dietary Phe and protein intake over time following a single administration of BMN 307<br>;Primary end point(s): - Change in mean plasma Phe levels<br>;Timepoint(s) of evaluation of this end point: Week 10 - 12
- Secondary Outcome Measures
Name Time Method Secondary end point(s): - Change in mean plasma Phe levels<br>- Proportion of subjects achieving plasma Phe milestones<br>- Change in dietary protein intake from intact food<br>- Proportion of subjects consuming protein from intact food while maintaining plasma Phe<br>;Timepoint(s) of evaluation of this end point: Week 22 - 24, Week 24, Week 48, Week 96