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Natural History Clinical Study in Adult PKU

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT04768348
Recruitment Status : Active, not recruiting
First Posted : February 24, 2021
Last Update Posted : November 17, 2022
Information provided by (Responsible Party):
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.

Condition or disease
Phenylketonurias PKU

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.

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Study Type : Observational
Estimated Enrollment : 15 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective Study Investigating the Natural History of Adults With Phenylketonuria (PKU) Due to Phenylalanine Hydroxylase Deficiency
Actual Study Start Date : April 20, 2021
Estimated Primary Completion Date : February 2023
Estimated Study Completion Date : February 2023

Primary Outcome Measures :
  1. Plasma phenylalanine (Phe) concentrations [ Time Frame: Baseline to Week 52 ]
    Change in plasma Phe concentrations throughout study duration

  2. Plasma tyrosine (Tyr) concentrations [ Time Frame: Baseline to Week 52 ]
    Change in plasma Tyr concentrations throughout study duration

  3. Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures [ Time Frame: Baseline to Week 52 ]
    Changes in PKU-QOL

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 55 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adults with diagnosed PKU due to PAH deficiency

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04768348

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United States, California
Kaiser Permanente Los Angeles Medical Center
Los Angeles, California, United States, 90027
Children's Hospital of Orange County
Orange, California, United States, 92868
United States, Florida
University of South Florida
Tampa, Florida, United States, 33606
United States, Georgia
Emory University Hospital
Atlanta, Georgia, United States, 30322
United States, Indiana
Community Health Clinic
Topeka, Indiana, United States, 46571
United States, Pennsylvania
University of Pittsburgh Medical Center- CHOP
Pittsburgh, Pennsylvania, United States, 15224
United States, Texas
UT Southwestern Medical Center
Dallas, Texas, United States, 75390
United States, Utah
University of Utah Health
Salt Lake City, Utah, United States, 84018
Sponsors and Collaborators
Homology Medicines, Inc
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Responsible Party: Homology Medicines, Inc
ClinicalTrials.gov Identifier: NCT04768348    
Other Study ID Numbers: HMI-100-002
First Posted: February 24, 2021    Key Record Dates
Last Update Posted: November 17, 2022
Last Verified: March 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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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
Metabolic Diseases