PhenylketonuriasNCT04768348
Natural History Clinical Study in Adult PKU
An observational study of Phenylketonurias and PKU, run by Homology Medicines, Inc at 8 sites in United States.
Trial 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 more about this study
- Who is it for?
- Ages 18 to 55 years
- Conditions the study is for
- Phenylketonurias, PKU
- How many people
- 7 participants
- Where
- 8 sitesUnited States
- Study dates
- 20 Apr 2021to 1 Aug 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 55 years
- All sexes
- No healthy volunteers
- Adult
Study population: Adults with diagnosed PKU due to PAH deficiency
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
8 sites in 1 country.
8 sites in 1 country
United States8 sites
Emory University Hospital
Atlanta, Georgia, 30322
UT Southwestern Medical Center
Dallas, Texas, 75390
Kaiser Permanente Los Angeles Medical Center
Los Angeles, California, 90027
Children's Hospital of Orange County
Orange, California, 92868
University of Pittsburgh Medical Center- CHOP
Pittsburgh, Pennsylvania, 15224
University of Utah Health
Salt Lake City, Utah, 84018
University of South Florida
Tampa, Florida, 33606
Community Health Clinic
Topeka, Indiana, 46571
About this study
Official title: A Prospective Study Investigating the Natural History of Adults With Phenylketonuria (PKU) Due to Phenylalanine Hydroxylase Deficiency
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
- Phenylketonurias, PKU
- Medical subject headings
- Phenylketonurias
What is being measured
The primary outcome is the main question the study is designed to answer.
Plasma phenylalanine (Phe) concentrations
Change in plasma Phe concentrations throughout study duration
Measured: Baseline to Week 52
Plasma tyrosine (Tyr) concentrations
Change in plasma Tyr concentrations throughout study duration
Measured: Baseline to Week 52
Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures
Changes in PKU-QOL
Measured: Baseline to Week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Feb 2021
- Study start20 Apr 2021
- Primary completion1 Feb 2023
- Study completion1 Aug 2023
Why it stopped: Homology Medicines has discontinued the development of this program.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriasStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 7 participants (actual)
Sponsor and investigators
- Lead sponsor
- Homology Medicines, Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04768348
- Sponsor's protocol ID
- HMI-100-002
- Status last verified
- Aug 2023
- First submitted
- 18 Feb 2021
- Last updated
- 25 Aug 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Study Investigating the Natural History of Adults With Phenylketonuria (PKU) Due to Phenylalanine Hydroxylase Deficiency
- ClinicalTrials.gov ID
- NCT04768348
- Acronym / sponsor ID
- HMI-100-002
- Conditions
- Phenylketonurias, PKU
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Homology Medicines has discontinued the development of this program.
- Enrolment
- 7 participants (actual)
- Lead sponsor
- Homology Medicines, IncIndustry (pharma, biotech, devices)
- Study start
- 20 Apr 2021 (actual)
- Primary completion
- 1 Feb 2023 (actual)
- Study completion
- 1 Aug 2023 (actual)
- First posted
- 24 Feb 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Adults with diagnosed PKU due to PAH deficiency
Key inclusion criteria (3 listed)
- 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 (8 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Plasma phenylalanine (Phe) concentrations
Time frame: Baseline to Week 52
Change in plasma Phe concentrations throughout study duration
Plasma tyrosine (Tyr) concentrations
Time frame: Baseline to Week 52
Change in plasma Tyr concentrations throughout study duration
Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures
Time frame: Baseline to Week 52
Changes in PKU-QOL
Results and safety
The study was stopped early (reason given: Homology Medicines has discontinued the development of this program.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Aug 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
8 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonurias and PKU, run by Homology Medicines, Inc at 8 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 25 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Homology Medicines has discontinued the development of this program.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Plasma phenylalanine (Phe) concentrations (time frame: Baseline to Week 52). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Aug 2023.