Phenylketonurias, PKU
Conditions
Brief summary
The objective of this study is to characterize the natural history of phenylketonuria (PKU) due to phenylalanine hydroxylase (PAH) deficiency in adults through prospective collection of clinical, cognitive, and quality of life assessments.
Detailed description
Phenylalanine hydroxylase (PAH) deficiency is a rare disease caused by an inborn error of metabolism. If left untreated, PAH deficiency results in progressive, irreversible neurological impairment during infancy and early childhood. This study is designed to collect information about important PKU-related symptoms and tests to characterize the natural history of PKU due to PAH deficiency in a selected sample of adults. No new investigational treatment will be administered to participating patients.
Interventions
None listed
Sponsors
Homology Medicines, Inc
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 55 Years
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria: * Aged 18-55 years at the time of informed consent * Diagnosis of PKU due to PAH deficiency * One plasma Phe value with a concentration of ≥ 600 μmol/L drawn at Screening and at least 1 historical Phe value ≥ 600 μmol/L in the preceding 12 months Key
Exclusion criteria
* Subjects with PKU that is not due to PAH deficiency * Alanine aminotransferase (ALT) \> 1.5x upper limit of normal (ULN) and aspartate aminotransferase (AST) \>1.5x ULN * Alkaline phosphatase \> 1.5x ULN * Total bilirubin \> 1.5x ULN, direct bilirubin ≥ 1.5x ULN, unless associated with Gilbert's syndrome. * Serum creatinine \> 1.5x ULN * 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 \< 1,500/μL; platelets \< 100,000/μL) * Hemoglobin A1c \> 6.5% or fasting glucose \> 126 mg/dL * Any clinically significant abnormal laboratory result at Screening, as determined by the Investigator
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Plasma phenylalanine (Phe) concentrations | Baseline to Week 52 | Change in plasma Phe concentrations throughout study duration |
| Plasma tyrosine (Tyr) concentrations | Baseline to Week 52 | Change in plasma Tyr concentrations throughout study duration |
| Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures | Baseline to Week 52 | Changes in PKU-QOL |
Countries
United States
Outcome results
None listed