Gene Therapy Clinical Study in Adult PKU (pheNIX)
Phenylketonurias, PAH Deficiency
About this trial
This is an interventional treatment trial for Phenylketonurias focused on measuring PKU, Phenylketonuria, PAH Deficiency, Hyperphenylalaninemia, Phenylalanine, Adeno Associated Virus, AAVHSC15
Eligibility Criteria
Key Inclusion Criteria:
- Adults 18-55 years of age at the time of informed consent
- Diagnosis of phenylketonuria (PKU) due to PAH deficiency
- Two plasma Phe values with a concentration of ≥ 600 μmol/L drawn at least 72 hours apart during the screening period and at least one historical value ≥ 600 μmol/L in the preceding 24 months.
- Subject has the ability and willingness to maintain their baseline diet, whether Phe-restricted or unrestricted for the duration of the trial, unless otherwise directed
Key Exclusion Criteria:
- Subjects with PKU that is not due to PAH deficiency
- Presence of anti-AAVHSC15 neutralizing antibodies
- ALT > ULN and AST > ULN
- Alkaline phosphatase > ULN.
- Total bilirubin > ULN, direct bilirubin > ULN
- Serum creatinine >1.5x ULN
- International normalized ratio (INR) > 1.2
- Hematology values outside of the normal range (hemoglobin <11.0 g/dL for males or <10.0 g/dL for females; white blood cells (WBC) <3,000/μL; absolute neutrophils <1500/μL; platelets <100,000/μL)
- Hemoglobin A1c >6.5% or fasting glucose >126 mg/dL
- Any clinically significant abnormal laboratory result at screening, in the opinion of the Investigator
- Contraindication to corticosteroid use or conditions that could worsen in the presence of corticosteroids, as assessed and determined by the investigator
- Previously received gene therapy for the treatment of any condition.
Sites / Locations
- Kaiser Permanente Los Angeles Medical Center
- Children's Hospital of Orange County
- University of South Florida
- Emory University Hospital
- Lurie Children's Hospital of Chicago
- Boston Children's Hospital
- Icahn School of Medicine at Mount Sinai
- The University of North Carolina At Chapel Hill
- Nationwide Children's Hospital
- Children's Hospital of Philadelphia
- UPMC Children's Hospital of Pittsburgh
- University of Texas Southwestern Medical Center
- University of Utah
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm 4
Arm 5
Arm 6
Experimental
Experimental
Experimental
Experimental
Experimental
Experimental
Cohort 1
Cohort 2
Cohort 3
Delayed Treatment Control
Expansion Phase First Dose level
Expansion Phase Second Dose level
Dose Level 1 of HMI-102 delivered intravenously one time
Dose Level 2 of HMI-102 delivered intravenously one time
Dose Level 3 of HMI-102 delivered intravenously one time
Delayed Treatment Control Arm
Expansion Phase First Dose Level of HMI-102 delivered intravenously one time
Expansion Phase Second Dose Level of HMI-102 delivered intravenously one time