Natural History Clinical Study in Adult PKU

Terminated

• Conditions: Phenylketonurias; PKU

• Registration Number: NCT04768348
• Lead Sponsor: Homology Medicines, Inc

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 Timeline

• Study First Submitted: 2021-02-18
• Study First Submitted QC: 2021-02-22
• Study First Posted: 2021-02-24
• Study Start: 2021-04-20
• Primary Completion: 2023-02-01
• Status Verified: 2023-08
• Study Completion: 2023-08-01
• Last Update Submitted: 2023-08-24
• Last Update Posted: 2023-08-25

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 7

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (8)

Emory University Hospital; 🇺🇸 Atlanta, Georgia, United States

Kaiser Permanente Los Angeles Medical Center; 🇺🇸 Los Angeles, California, United States

UT Southwestern Medical Center; 🇺🇸 Dallas, Texas, United States

Community Health Clinic; 🇺🇸 Topeka, Indiana, United States

University of Pittsburgh Medical Center- CHOP; 🇺🇸 Pittsburgh, Pennsylvania, United States

University of Utah Health; 🇺🇸 Salt Lake City, Utah, United States

Children's Hospital of Orange County; 🇺🇸 Orange, California, United States

University of South Florida; 🇺🇸 Tampa, Florida, United States