PhenylketonuriasNCT03856203
Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase
An observational study of Phenylketonurias, run by Boston Children's Hospital at 1 site in United States.
Trial summary
Conduct a prospective, longitudinal study to evaluate nutritional status in adults with phenylketonuria (PKU) before and during treatment with pegvaliase (Palynziq™). Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Phenylketonurias
- How many people
- 12 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Mar 2019to 20 Oct 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 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: This study will recruit adults with PKU who are starting therapy with pegvaliase and currently following a protein-restricted diet with or without medical food.
Who may be able to join
- Diagnosis of phenylketonuria
- Aged 18-65 years
- Following a protein-restricted diet with or without medical food within the last 30 days
- Routine natural protein intake from food is less than the RDA for protein based on weight (0.8 g/kg/day).
- If not consuming animal proteins, recommended protein intake is 115% RDA due to lower bioavailability of plant proteins.
- Within ±90 days of starting treatment with pegvaliase at time of study enrollment
Who cannot join
- Unable to consent to study
- Under age 18 or over age 65 years
- Routine natural protein intake is greater than the RDA for protein (0.8 g/kg/d) within the last 30 days.
- Females who are currently pregnant or lactating
Trial locations and contacts
1 site in 1 country.
United States1 site
Boston Children's Hospital
Boston, Massachusetts, 02115
About this study
Official title: Longitudinal Assessment of Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase
Conduct a prospective, longitudinal study to evaluate nutritional status in adults with phenylketonuria (PKU) before and during treatment with pegvaliase (Palynziq™).
Read the detailed description
The investigators will compare intra-subject change in adults with PKU who follow a protein-restricted diet (protein intake less than the RDA for protein based on weight (0.8 g/kg/day) with or without a PKU medical food) within 90 days of starting pegvaliase (baseline) and 9 and 15 months later. The investigators will collect laboratory measures of nutrition status, anthropometrics, Dual-Energy X-Ray Absorptiometry (DXA) to measure body composition and bone mineral density (BMD), and indirect calorimetry to measure resting energy expenditure (REE). In addition, three-day food records will be obtained to assess protein intake and overall diet quality.
- Conditions
- Phenylketonurias
- Medical subject headings
- Phenylketonurias
What is being measured
The primary outcome is the main question the study is designed to answer.
Intra-subject change in intact and medical food protein intake (grams/day) as reported on three-day food records at months 0, 9, and 15.
Measured: 15 months
Intra-subject change in serum markers of protein status at months 0, 9, and 15.
Measured: 15 months
Intra-subject difference in lean body mass (%LBM) from month 0 to 15.
Measured: 15 months
Intra-subject difference in bone mineral density from month 0 to 15.
Measured: 15 months
Secondary outcomes (7)
Intra-subject change in concentrations of serum markers of micronutrient status at months 0, 9, and 15.
Measured: 15 months
Intra-subject change in serum concentrations of essential fatty acid nutriture at months 0, 9, and 15.
Measured: 15 months
Intra-subject change in BMI at months 0, 9, and 15.
Measured: 15 months
Intra-subject change in serum markers of cardiovascular status at months 0, 9, and 15.
Measured: 15 months
Intra-subject change in emotional eating, cognitive restraint, uncontrolled eating at months 0, 9, and 15.
Three-Factor Eating Questionnaire (TFEQ)-18 is an 18-item questionnaire measured on a four-point scale cognitive restraint (6 items), uncontrolled eating (9 items) and emotional eating (3 items). Responses are measured on a four-point scale and the raw scores for each subscale are transformed to correspond to a 0-100 point scale. Higher scores in the respective scales are indicative of greater cognitive restraint, emotional eating, and uncontrolled eating.
Measured: 15 months
Intra-subject change in food neophobia at months 0, 9, and 15.
Food Neophobia Scale, which was adapted for a PKU population, includes nine questions measured on a seven-point scale with a higher total score indicative of greater food neophobia (score range 9-63).
Measured: 15 months
Intra-subject change in Epicurean eating tendencies at months 0, 9, and 15.
Epicurean eating tendencies questionnaire includes seven items measured with a seven-point scale (range 7-49). Higher scores indicative of greater Epicurean eating tendencies.
Measured: 15 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Feb 2019
- Study start8 Mar 2019
- Primary completion31 Dec 2022
- Study completion20 Oct 2023
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.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- 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
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03856203
- Sponsor's protocol ID
- IRB-P00029889
- Status last verified
- Jun 2024
- First submitted
- 14 Feb 2019
- Last updated
- 2 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- 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 2 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Assessment of Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase
- ClinicalTrials.gov ID
- NCT03856203
- Acronym / sponsor ID
- IRB-P00029889
- Conditions
- Phenylketonurias
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 12 participants (actual)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Study start
- 8 Mar 2019 (actual)
- Primary completion
- 31 Dec 2022 (actual)
- Study completion
- 20 Oct 2023 (actual)
- First posted
- 27 Feb 2019 (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.
Conduct a prospective, longitudinal study to evaluate nutritional status in adults with phenylketonuria (PKU) before and during treatment with pegvaliase (Palynziq™).
Detailed description
The investigators will compare intra-subject change in adults with PKU who follow a protein-restricted diet (protein intake less than the RDA for protein based on weight (0.8 g/kg/day) with or without a PKU medical food) within 90 days of starting pegvaliase (baseline) and 9 and 15 months later. The investigators will collect laboratory measures of nutrition status, anthropometrics, Dual-Energy X-Ray Absorptiometry (DXA) to measure body composition and bone mineral density (BMD), and indirect calorimetry to measure resting energy expenditure (REE). In addition, three-day food records will be obtained to assess protein intake and overall diet quality.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- This study will recruit adults with PKU who are starting therapy with pegvaliase and currently following a protein-restricted diet with or without medical food.
Key inclusion criteria (6 listed)
- Diagnosis of phenylketonuria
- Aged 18-65 years
- Following a protein-restricted diet with or without medical food within the last 30 days
- Routine natural protein intake from food is less than the RDA for protein based on weight (0.8 g/kg/day).
- If not consuming animal proteins, recommended protein intake is 115% RDA due to lower bioavailability of plant proteins.
Key exclusion criteria (4 listed)
- Unable to consent to study
- Under age 18 or over age 65 years
- Routine natural protein intake is greater than the RDA for protein (0.8 g/kg/d) within the last 30 days.
- Females who are currently pregnant or lactating
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
Intra-subject change in intact and medical food protein intake (grams/day) as reported on three-day food records at months 0, 9, and 15.
Time frame: 15 months
Intra-subject change in serum markers of protein status at months 0, 9, and 15.
Time frame: 15 months
Intra-subject difference in lean body mass (%LBM) from month 0 to 15.
Time frame: 15 months
Intra-subject difference in bone mineral density from month 0 to 15.
Time frame: 15 months
7 secondary outcomes
Intra-subject change in concentrations of serum markers of micronutrient status at months 0, 9, and 15.
Time frame: 15 months
Intra-subject change in serum concentrations of essential fatty acid nutriture at months 0, 9, and 15.
Time frame: 15 months
Intra-subject change in BMI at months 0, 9, and 15.
Time frame: 15 months
Intra-subject change in serum markers of cardiovascular status at months 0, 9, and 15.
Time frame: 15 months
Intra-subject change in emotional eating, cognitive restraint, uncontrolled eating at months 0, 9, and 15.
Time frame: 15 months
Intra-subject change in food neophobia at months 0, 9, and 15.
Time frame: 15 months
Intra-subject change in Epicurean eating tendencies at months 0, 9, and 15.
Time frame: 15 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jun 2026.
- 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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonurias, run by Boston Children's Hospital at 1 site 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 6 inclusion and 4 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: finished, as of the sponsor's last update on 2 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Intra-subject change in intact and medical food protein intake (grams/day) as reported on three-day food records at months 0, 9, and 15. (time frame: 15 months). The study lists 4 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 2 Jun 2026.