Principal Investigator: Nicola Longo
Keywords: PKU Department: Pediatric Genetics
IRB Number: 00126507
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Not yet recruiting

Contact Information

Jenny  Billy

Brief Summary

The objective of this study is to collect longitudinal data assessing markers of disease and clinical
outcomes in PKU subjects ≥14 years old. 



This study is intended to evaluate plasma Phe levels, evaluate phenylalanine oxidation using the 13C-phenylalanine breath test (PBT), and further characterize clinical outcomes over time in PKU patients with uncontrolled plasma Phe.

Inclusion Criteria

Individuals eligible to participate in this study must meet all of the following inclusion criteria:
1.Male or female subjects aged ≥ 14 years with PKU
2.Not currently on pharmacotherapy to treat PKU. If previously on pharmacotherapy totreat PKU:
     •Last dose of pegvaliase or large neutral amino acids (LNAAs) must have been at least 30 days prior to Screening
     •Last dose of sapropterin must have been at least 7 days prior to Screening
3.Have a Screening plasma Phe level of > 600 μmol/L
4.Known status of antibodies against the AAV5 capsid prior to Day 1.
5.Is willing and able to provide written, signed informed consent after the nature of the study has been explained and prior to performance of study-related procedures.Subjects under the age of 18 (or other age as defined by regional law or regulation)must be willing and able to provide written assent, and have a parent(s) or guardian(s)willing and able to provide written, signed informed consent after the nature of the study has been explained and prior to performance of any research-related procedure.
6.Have the ability to comply with protocol requirements in the opinion of the Investigator.
7.If applicable, maintained stable dose of medication for ADHD, depression, anxiety,or other psychiatric disorder for ≥ 8 weeks prior to enrollment and willing to maintain stable dose throughout study unless a change is medically indicated.
8.Are in generally good health, as evidenced by physical examination and clinical laboratory evaluations (hematology, chemistry, and urinalysis) performed at Screening.

Exclusion Criteria

Individuals who meet any of the following exclusion criteria will not be eligible to participate in the study:
1.Use of any investigational product or investigational medical device within 30 days(or 5 half-lives, whichever is longer) prior to Screening, or requirement for any investigational agent prior to completion of all scheduled study assessments.
2.A history of substance abuse (as defined by the American Psychiatric Association:Diagnostic and Statistical Manual of Mental Disorders [DSM] American Psychiatric Association, 2000) in the past 12 months, or current alcohol or drug abuse.
3.Liver dysfunction as evidenced by the following abnormal laboratory results:
    •Alanine aminotransferase (ALT) > 1.5 x upper limit of normal (ULN)
    •Aspartate aminotransferase (AST) > 1.5 x ULN
    •Gamma-glutamyl transferase (GGT) > 1.5 x ULN
    •Total bilirubin > 1.5 x ULN
Note: Subjects whose liver laboratory assessments fall outside of these ranges may undergo repeat testing of the entire liver panel. If eligibility criteria are met on retest within the same screening window, the subject may be enrolled after confirmation by the Medical Monitor.
4.Chronic or active hepatitis B as evidenced by positive serology testing (hepatitis B surface antigen [HBsAg], hepatitis B surface antibody [HBsAb], and hepatitis B coreantibody [HBcAb]) and confirmatory hepatitis B virus (HBV) DNA testing at Screening. Refer to the Centers for Disease Control (CDC) table for the interpretation of serological test results in the Laboratory Manual.
5.Active hepatitis C as evidenced by detectable hepatitis C virus (HCV) RNA at Screening, or currently on antiviral therapy
6.Any evidence of active infection or any immunosuppressive disorder.
7.HIV positive as evidenced by HIV antibody testing.
8.Prior evidence of liver cirrhosis.
9.Major surgery planned during the study period.
10.Pregnant at Screening or planning to become pregnant during the duration of the study.
11.Prior treatment with gene therapy.
12. Concurrent disease or condition that in the opinion of the investigator, would interfere with study participation or safety (eg, history or presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematologic, gastrointestinal, endocrine, immunologic, dermatologic, neurological, oncologic, or psychiatric disease).