Clinical trial NCT04768348: Natural History Clinical Study in Adult PKU
Official title: A Prospective Study Investigating the Natural History of Adults With Phenylketonuria (PKU) Due to Phenylalanine Hydroxylase Deficiency
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Phenylketonurias
PKU
Lead sponsor: Homology Medicines, Inc
Sponsor class: INDUSTRY
First posted: 2021-02-24
Enrollment: 7
Sex: ALL
Minimum age (years): 18
Maximum age (years): 55
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Adults with diagnosed PKU due to PAH deficiency

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.

Eligibility 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

Primary outcomes:
measure: Plasma phenylalanine (Phe) concentrations
timeFrame: Baseline to Week 52
measure: Plasma tyrosine (Tyr) concentrations
timeFrame: Baseline to Week 52
measure: Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures
timeFrame: Baseline to Week 52
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Kaiser Permanente Los Angeles Medical Center
state: California
city: Orange
country: United States
facility: Children's Hospital of Orange County
state: California
city: Tampa
country: United States
facility: University of South Florida
state: Florida
city: Atlanta
country: United States
facility: Emory University Hospital
state: Georgia
city: Topeka
country: United States
facility: Community Health Clinic
state: Indiana
city: Pittsburgh
country: United States
facility: University of Pittsburgh Medical Center- CHOP
state: Pennsylvania
city: Dallas
country: United States
facility: UT Southwestern Medical Center
state: Texas
city: Salt Lake City
country: United States
facility: University of Utah Health
state: Utah
Study officials:
References: