Clinical trial NCT03856203: Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase
Official title: Longitudinal Assessment of Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Phenylketonurias
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
Collaborators: name: BioMarin Pharmaceutical
First posted: 2019-02-27
Enrollment: 12
Sex: ALL
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

Brief summary: 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.

Eligibility criteria: 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

Primary outcomes:
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.
timeFrame: 15 months
measure: Intra-subject change in serum markers of protein status at months 0, 9, and 15.
timeFrame: 15 months
measure: Intra-subject difference in lean body mass (%LBM) from month 0 to 15.
timeFrame: 15 months
measure: Intra-subject difference in bone mineral density from month 0 to 15.
timeFrame: 15 months
Secondary outcomes:
measure: Intra-subject change in concentrations of serum markers of micronutrient status at months 0, 9, and 15.
timeFrame: 15 months
measure: Intra-subject change in serum concentrations of essential fatty acid nutriture at months 0, 9, and 15.
timeFrame: 15 months
measure: Intra-subject change in BMI at months 0, 9, and 15.
timeFrame: 15 months
measure: Intra-subject change in serum markers of cardiovascular status at months 0, 9, and 15.
timeFrame: 15 months
measure: Intra-subject change in emotional eating, cognitive restraint, uncontrolled eating at months 0, 9, and 15.
timeFrame: 15 months
measure: Intra-subject change in food neophobia at months 0, 9, and 15.
timeFrame: 15 months
measure: Intra-subject change in Epicurean eating tendencies at months 0, 9, and 15.
timeFrame: 15 months
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
Study officials:
References: