Natural History Clinical Study in Adult PKU

Phenylketonurias Clinical Trial

Official title:

A Prospective Study Investigating the Natural History of Adults With Phenylketonuria (PKU) Due to Phenylalanine Hydroxylase Deficiency

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT04768348
• Other study ID #: HMI-100-002
• Status: Terminated
• Start date: April 20, 2021
• Est. completion date: August 1, 2023

Study information

• Verified date: August 2023
• Source: Homology Medicines, Inc
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 7
• Est. completion date: August 1, 2023
• Est. primary completion date: February 1, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 55 Years

Eligibility

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

Related Conditions & MeSH terms

• Phenylketonurias
• PKU

Locations

Country	Name	City	State
United States	Emory University Hospital	Atlanta	Georgia
United States	UT Southwestern Medical Center	Dallas	Texas
United States	Kaiser Permanente Los Angeles Medical Center	Los Angeles	California
United States	Children's Hospital of Orange County	Orange	California
United States	University of Pittsburgh Medical Center- CHOP	Pittsburgh	Pennsylvania
United States	University of Utah Health	Salt Lake City	Utah
United States	University of South Florida	Tampa	Florida
United States	Community Health Clinic	Topeka	Indiana

Sponsors (1)

Lead Sponsor	Collaborator
Homology Medicines, Inc

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Plasma phenylalanine (Phe) concentrations	Change in plasma Phe concentrations throughout study duration	Baseline to Week 52
Primary	Plasma tyrosine (Tyr) concentrations	Change in plasma Tyr concentrations throughout study duration	Baseline to Week 52
Primary	Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures	Changes in PKU-QOL	Baseline to Week 52