Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase

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™).

Study Overview

• Status: Completed
• Conditions: Phenylketonurias

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 Type: Observational
• Enrollment (Actual): 12

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Boston Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 65 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

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.

Description

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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.	15 months
Intra-subject change in serum markers of protein status at months 0, 9, and 15.	15 months
Intra-subject difference in lean body mass (%LBM) from month 0 to 15.	15 months
Intra-subject difference in bone mineral density from month 0 to 15.	15 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Intra-subject change in concentrations of serum markers of micronutrient status at months 0, 9, and 15.		15 months
Intra-subject change in serum concentrations of essential fatty acid nutriture at months 0, 9, and 15.		15 months
Intra-subject change in BMI at months 0, 9, and 15.		15 months
Intra-subject change in serum markers of cardiovascular status at months 0, 9, and 15.		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.	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).	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.	15 months

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Collaborators: BioMarin Pharmaceutical

Study record dates

Study Major Dates

• Study Start (Actual): March 8, 2019
• Primary Completion (Actual): December 31, 2022
• Study Completion (Actual): October 20, 2023

Study Registration Dates

• First Submitted: February 14, 2019
• First Submitted That Met QC Criteria: February 25, 2019
• First Posted (Actual): February 27, 2019

Study Record Updates

• Last Update Posted (Estimated): November 16, 2023
• Last Update Submitted That Met QC Criteria: November 15, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: IRB-P00029889

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No