A Prospective Study Investigating the Natural History of Adults With Phenylketonuria (PKU) Due to Phenylalanine Hydroxylase Deficiency
Trial Snapshot
- Phase
- Not Applicable
- Status
- Terminated
- Sponsor
- Homology Medicines, Inc
- Enrollment
- 7
- Locations
- 8
- Primary Endpoint
- Plasma phenylalanine (Phe) concentrations
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 18 Years to 55 Years (Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
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
Outcomes
Primary Outcomes
Plasma phenylalanine (Phe) concentrations
Time Frame: Baseline to Week 52
Change in plasma Phe concentrations throughout study duration
Plasma tyrosine (Tyr) concentrations
Time Frame: Baseline to Week 52
Change in plasma Tyr concentrations throughout study duration
Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures
Time Frame: Baseline to Week 52
Changes in PKU-QOL
Secondary Outcomes
No secondary outcomes reported