Natural History Clinical Study in Adult PKU

NCT04768348 | Terminated

• 1 other identifier: HMI-100-002
• Study Type: observational
• Target: 7
• Locations: 1 country
• Sites: 8

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.

Conditions

Phenylketonurias; PKU

Outcome Measures

Primary Outcomes (3)

• Plasma phenylalanine (Phe) concentrations

  Change in plasma Phe concentrations throughout study duration

  Baseline to Week 52

• Plasma tyrosine (Tyr) concentrations

  Change in plasma Tyr concentrations throughout study duration

  Baseline to Week 52

• Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures

  Changes in PKU-QOL

  Baseline to Week 52

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Adults with diagnosed PKU due to PAH deficiency

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Homology Medicines, Inc: lead

Study Sites (8)

Kaiser Permanente Los Angeles Medical Center

Los Angeles, California, 90027, United States

Location

Children's Hospital of Orange County

Orange, California, 92868, United States

Location

University of South Florida

Tampa, Florida, 33606, United States

Location

Emory University Hospital

Atlanta, Georgia, 30322, United States

Location

Community Health Clinic

Topeka, Indiana, 46571, United States

Location

University of Pittsburgh Medical Center- CHOP

Pittsburgh, Pennsylvania, 15224, United States

Location

UT Southwestern Medical Center

Dallas, Texas, 75390, United States

Location

University of Utah Health

Salt Lake City, Utah, 84018, United States

Location

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 18, 2021
• First Posted: February 24, 2021
• Study Start: April 20, 2021
• Primary Completion: February 1, 2023
• Study Completion: August 1, 2023
• Last Updated: August 25, 2023

Record last verified: 2023-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (8)