SNAP: Study Nutrients in Adult PKU

Phenylketonuria Clinical Trial

— SNAP  

Official title:

An Exploratory Matched Case-control Study to Measure Blood Nutrient Levels of Adult PKU Patients on a Protein Substitute.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03858101
• Other study ID #: MBB16TA10778
• Status: Completed
• Start date: April 15, 2019
• Est. completion date: May 15, 2023

Study information

• Verified date: September 2021
• Source: Nutricia Research
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 71
• Est. completion date: May 15, 2023
• Est. primary completion date: March 3, 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

• 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)

Related Conditions & MeSH terms

• Phenylketonuria
• Phenylketonurias

Locations

Country	Name	City	State
Belgium	UZ Gent	Gent
Denmark	Rigshospitalet	Copenhagen
Spain	Úniversity Clinical Hospital	Santiago De Compostela
Spain	Hospital Universitario Virgen del Rocio	Sevilla

Sponsors (1)

Lead Sponsor	Collaborator
Nutricia Research

Countries where clinical trial is conducted

Belgium,  Denmark,  Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Blood nutritional status	Micro-and macronutrients and amino acid levels [in a.o. mg/L]	day 1
Secondary	Blood nutritional status	Phe/Tyr ratio [µmol/L]	day 1
Secondary	Nutrient intake	measured by three-day food diary. Nutrients in [mg/day]	day 1 - day 7
Secondary	Subjective cognitive well-being	measured by FACT-Cog questionnaire: [four domains [score-range): 1) patients' perceived cognitive impairments [0-80]; 2) perceived cognitive abilities [0-36]; 3) noticeability or comments from others [0-16]; 4) impact of cognitive changes on quality of life [0-16]. A summary score is obtained by summing all item scores [0-148].	day 1 - day 7