Natural History Clinical Study in Adult PKU (NCT04768348) | Clinical Trial Compass
TerminatedNot Applicable
Natural History Clinical Study in Adult PKU
Stopped: Homology Medicines has discontinued the development of this program.
United States7 participantsStarted 2021-04-20
Plain-language 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.
Who can participate
Age range
18 Years – 55 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Plasma phenylalanine (Phe) concentrations
Timeframe: Baseline to Week 52
2
Plasma tyrosine (Tyr) concentrations
Timeframe: Baseline to Week 52
3
Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures