Status:
TERMINATED
Natural History Clinical Study in Adult PKU
Lead Sponsor:
Homology Medicines, Inc
Conditions:
Phenylketonurias
PKU
Eligibility:
All Genders
18-55 years
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, cogn...
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 dur...
Eligibility Criteria
Inclusion
- Key
- 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
- 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
Key Trial Info
Start Date :
April 20 2021
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
August 1 2023
Estimated Enrollment :
7 Patients enrolled
Trial Details
Trial ID
NCT04768348
Start Date
April 20 2021
End Date
August 1 2023
Last Update
August 25 2023
Active Locations (8)
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1
Kaiser Permanente Los Angeles Medical Center
Los Angeles, California, United States, 90027
2
Children's Hospital of Orange County
Orange, California, United States, 92868
3
University of South Florida
Tampa, Florida, United States, 33606
4
Emory University Hospital
Atlanta, Georgia, United States, 30322