TerminatedNCT04768348Updated Aug 25, 2023

Natural History Clinical Study in Adult PKU

An observational study in Phenylketonurias and PKU, sponsored by Homology Medicines, Inc. Terminated at 8 sites in United States. Open to participants aged 18 Years to 55 Years. Per ClinicalTrials.gov, last updated 2023-08-25.

Sponsored by Homology Medicines, Inc · Observational

Why this study was terminated

Homology Medicines has discontinued the development of this program.

Study type: Observational
Model: Cohort
Time perspective: Prospective
Enrollment: 7
Ages: 18 Years to 55 Years
Sex: All

Study 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.

Read the 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.

Conditions studied

Phenylketonurias
PKU

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Phenylketonurias 183

In context

Phenylketonurias

183 studies on the registry are indexed under Phenylketonurias; 38 are open to participants now.

This study's enrollment of 7 is below the median of 40 across 60 observational studies indexed under Phenylketonurias.

Browse Phenylketonurias studies →

Lead sponsor

Homology Medicines, Inc is the lead sponsor of 5 studies on the registry; 1 is open to participants now.

Counted across the registry records on this site, refreshed daily.

Who can participate

Ages eligible: 18 Years to 55 Years
Sexes eligible: All
Accepts healthy volunteers: No
Sampling method: Non-probability sample

Study population

Adults with diagnosed PKU due to PAH deficiency

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

Study design

Observational model: Cohort
Time perspective: Prospective
Enrollment: 7 participants (actual)
Patient registry: No

What researchers measure

Primary outcomes

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

Study locations

8 sites

Kaiser Permanente Los Angeles Medical Center
Los Angeles, California 90027, United States
Children's Hospital of Orange County
Orange, California 92868, United States
University of South Florida
Tampa, Florida 33606, United States
Emory University Hospital
Atlanta, Georgia 30322, United States
Community Health Clinic
Topeka, Indiana 46571, United States
University of Pittsburgh Medical Center- CHOP
Pittsburgh, Pennsylvania 15224, United States
UT Southwestern Medical Center
Dallas, Texas 75390, United States
University of Utah Health
Salt Lake City, Utah 84018, United States

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

Updates

Tracking since Sep 25, 2026

No changes since tracking began. The registry record was last updated on Aug 25, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗

Registry details

Key details

Study ID: NCT04768348
Lead sponsor: Homology Medicines, Inc
Responsible party: Sponsor
First posted: Feb 24, 2021
Start date: Apr 20, 2021
Primary completion: Feb 1, 2023
Completion: Aug 1, 2023
Last update: Aug 25, 2023

Oversight

Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No

View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is terminated, as verified in Aug 2023. You cannot join it, but the record below documents what was studied.

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Discussion

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