Clinical trial NCT03858101: SNAP: Study Nutrients in Adult PKU
Official title: An Exploratory Matched Case-control Study to Measure Blood Nutrient Levels of Adult PKU Patients on a Protein Substitute.
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Phenylketonuria
Lead sponsor: Nutricia Research
Sponsor class: INDUSTRY
First posted: 2019-02-28
Enrollment: 71
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: PKU subjects (18 years and olders) and non PKU comparisons.

Brief summary: Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). PKU patients have specific dietary needs and must follow a restrictive diet in the aim of preventing toxic levels of the amino acid phenylalanine (Phe) accumulation.

Detailed description: The aim of this explorative cross-sectional study is to gain quantitative insights on blood nutrient levels of adult PKU patients on a protein substitute.

Eligibility criteria: - Inclusion Criteria:

Both PKU and Non-PKU comparison subjects:

1. Age ≥18 years
2. Willing and able to provide signed informed consent PKU specific inclusion criteria
3. PKU patients identified by newborn screening and started low Phe diet before 1 month age
4. Usage of at least one Phe-free protein substitute (i.e. an amino acid mixture including micronutrients) on a daily basis for at least 26 consecutive weeks up to Visit 1

   Non-PKU comparison subjects specific inclusion criteria:
5. Same age- (±3 years) and sex as an included PKU subject

   * Exclusion Criteria:

Both PKU and Non-PKU comparison subjects:

1. For women: Currently pregnant or lactating
2. Current psychiatric disorders
3. Current Substance Use Disorders (as described in DSM V)
4. Current use of psychotropic and/or inotropic medication
5. Omega-3, antioxidant, (multi)vitamin and/or (multi)mineral supplement use within six weeks prior to entry in the study
6. Severe hepatic, thyroid or renal dysfunction
7. No acute illnesses like flu, diarrhea, or vomiting (subjects should be symptom free for a week prior to V1)
8. Participation in any other clinical intervention studies involving test products concomitantly or within six weeks prior to entry into the study
9. Other family members taking part in this study

   PKU subject specific exclusion criteria:
10. Use of BH4, or drugs that may interfere with main outcomes

    Non-PKU comparison subjects specific exclusion criteria:
11. Any condition or special diet (e.g. vegan or vegetarian diet) that effects the metabolism and/or normal dietary pattern/intake
12. A first or second degree relative with inborn errors of metabolism
13. Living together with someone with inborn errors of metabolism (e.g. partner, spouse or roommate)

Primary outcomes:
measure: Blood nutritional status
timeFrame: day 1
Secondary outcomes:
measure: Blood nutritional status
timeFrame: day 1
measure: Nutrient intake
timeFrame: day 1 - day 7
measure: Subjective cognitive well-being
timeFrame: day 1 - day 7
Other outcomes:
Locations:
city: Gent
country: Belgium
facility: UZ Gent
city: Copenhagen
country: Denmark
facility: Rigshospitalet
city: Santiago De Compostela
country: Spain
facility: Úniversity Clinical Hospital
city: Sevilla
country: Spain
facility: Hospital Universitario Virgen del Rocio
Study officials:
References: