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NCT Number: NCT03856203

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™).

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Key information

Conditions

Phenylketonurias Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

18 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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

  2. Intra-subject change in serum markers of protein status at months 0, 9, and 15.

    Time frame: 15 months

  3. Intra-subject difference in lean body mass (%LBM) from month 0 to 15.

    Time frame: 15 months

  4. Intra-subject difference in bone mineral density from month 0 to 15.

    Time frame: 15 months

Secondary outcomes

  1. Intra-subject change in concentrations of serum markers of micronutrient status at months 0, 9, and 15.

    Time frame: 15 months

  2. Intra-subject change in serum concentrations of essential fatty acid nutriture at months 0, 9, and 15.

    Time frame: 15 months

  3. Intra-subject change in BMI at months 0, 9, and 15.

    Time frame: 15 months

  4. Intra-subject change in serum markers of cardiovascular status at months 0, 9, and 15.

    Time frame: 15 months

  5. Intra-subject change in emotional eating, cognitive restraint, uncontrolled eating at months 0, 9, and 15.

    Time frame: 15 months

    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.

  6. Intra-subject change in food neophobia at months 0, 9, and 15.

    Time frame: 15 months

    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).

  7. Intra-subject change in Epicurean eating tendencies at months 0, 9, and 15.

    Time frame: 15 months

    Epicurean eating tendencies questionnaire includes seven items measured with a seven-point scale (range 7-49). Higher scores indicative of greater Epicurean eating tendencies.

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Collaborators

  • BioMarin Pharmaceutical

Registry information

Official study title

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

Important dates

Study start
2019
Primary completion
2022
Study completion
2023
First posted
Feb 27, 2019
Registry last updated
Jun 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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