Status:
COMPLETED
SNAP: Study Nutrients in Adult PKU
Lead Sponsor:
Nutricia Research
Conditions:
Phenylketonuria
Eligibility:
All Genders
18+ years
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 Pheny...
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
- \-
- Both PKU and Non-PKU comparison subjects:
- Age ≥18 years
- Willing and able to provide signed informed consent PKU specific inclusion criteria
- PKU patients identified by newborn screening and started low Phe diet before 1 month age
- 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:
- Same age- (±3 years) and sex as an included PKU subject
Exclusion
- Both PKU and Non-PKU comparison subjects:
- For women: Currently pregnant or lactating
- Current psychiatric disorders
- Current Substance Use Disorders (as described in DSM V)
- Current use of psychotropic and/or inotropic medication
- Omega-3, antioxidant, (multi)vitamin and/or (multi)mineral supplement use within six weeks prior to entry in the study
- Severe hepatic, thyroid or renal dysfunction
- No acute illnesses like flu, diarrhea, or vomiting (subjects should be symptom free for a week prior to V1)
- Participation in any other clinical intervention studies involving test products concomitantly or within six weeks prior to entry into the study
- Other family members taking part in this study
- PKU subject specific exclusion criteria:
- Use of BH4, or drugs that may interfere with main outcomes
- Non-PKU comparison subjects specific exclusion criteria:
- Any condition or special diet (e.g. vegan or vegetarian diet) that effects the metabolism and/or normal dietary pattern/intake
- A first or second degree relative with inborn errors of metabolism
- Living together with someone with inborn errors of metabolism (e.g. partner, spouse or roommate)
Key Trial Info
Start Date :
April 15 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 15 2023
Estimated Enrollment :
71 Patients enrolled
Trial Details
Trial ID
NCT03858101
Start Date
April 15 2019
End Date
May 15 2023
Last Update
June 2 2023
Active Locations (4)
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1
UZ Gent
Ghent, Belgium
2
Rigshospitalet
Copenhagen, Denmark
3
Úniversity Clinical Hospital
Santiago de Compostela, Spain
4
Hospital Universitario Virgen del Rocio
Seville, Spain