Trials / Terminated
TerminatedNCT04768348
Natural History Clinical Study in Adult PKU
A Prospective Study Investigating the Natural History of Adults With Phenylketonuria (PKU) Due to Phenylalanine Hydroxylase Deficiency
- Status
- Terminated
- Phase
- —
- Study type
- Observational
- Enrollment
- 7 (actual)
- Sponsor
- Homology Medicines, Inc · Industry
- Sex
- All
- Age
- 18 Years – 55 Years
- Healthy volunteers
- Not accepted
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.
Conditions
Timeline
- Start date
- 2021-04-20
- Primary completion
- 2023-02-01
- Completion
- 2023-08-01
- First posted
- 2021-02-24
- Last updated
- 2023-08-25
Locations
8 sites across 1 country: United States
Source: ClinicalTrials.gov record NCT04768348. Inclusion in this directory is not an endorsement.