Gene Therapy Clinical Study in Adult PKU (pheNIX)

Clinicaltrials.gov ID #

NCT03952156

Brief summary, including condition of target population, type of intervention and 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.

  • Recruitment status/timeline

    • Recruiting

  • Primary Investigator

    • Dr. Olaf Bodamer

  • Contact information for investigator or study team

    Eorna Maguire 617-919-1399 Eorna.Maguire@childrens.harvard.edu