Effects of Synergy on Nutrient Intake and Acceptability in Phenylketonuria (PKU)

NCT03777826 | Completed

• 1 other identifier: MPR16TA09791
• Study Type: interventional
• Target: 13
• Locations: 2 countries
• Sites: 3

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). Patients with mild PKU or partly responsive to the drug synthetic tetrahydrobiopterin (BH4) (Kuvan®) can change to a more relaxed diet. However due to difficulty to adapt their diet, these patients are at risk of an imbalanced nutritional status and an insufficient intake of specific micronutrients, essential amino acids and DHA (Docosahexaenoic acid). The study product is designed to improve the nutritional status of the patients. The study investigates if the nutritional status is indeed improved following 24 week use of the study product, and also the study aims to evaluate product acceptability.

Conditions

Phenylketonurias

Outcome Measures

Primary Outcomes (2)

• Nutrient intake

  Change in nutrient intake after 24 weeks by analysis of 3 day diet diary. Nutrients (energy, micronutrients, essential amino acids and DHA) in \[(m)/(micro)gram/day\] or \[mg/day or mg/kg/day\]

  24 weeks

• Product acceptability

  Product acceptability questionnaire \[category/score\] \[0-10\] and \[0-5\]

  24 weeks

Secondary Outcomes (6)

• Compliance

  24 weeks

• Phenylalanine (Phe) levels

  24 weeks

• Blood chemistry: nutritional status

  24 weeks

• Anthropometrics: weight

  24 weeks

• Anthropometrics: height

  24 weeks

Other Outcomes (5)

• Safety Parameters (Incidence, frequency, seriousness, severity and relatedness of (Serious) Adverse Events)

  24 weeks

• Tolerance (Standard gastrointestinal questionnaire reporting)

  24 weeks

• Subject characteristics

  week 0

Study Arms (1)

Open label (1 arm)

OTHER

Open label use of study product (post-marketing): PKU Synergy

Other: PKU Synergy

Interventions

PKU Synergy OTHER

PKU Synergy is a citrus flavored, powdered amino-acid mixture (containing traces of Phe, 4,3mg per portion; and 20 gr. Protein Equivalent (PE)) with a tailored amino acid and micronutrient profile adapted for the special requirements of HPA/PKU (Hyperphenylalaninemia/Phenylketonuria) subjects over 10 years of age with an increased Phenylalanine-(Phe) tolerance/intake.

Open label (1 arm)

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• PKU subjects identified by newborn screening and started low-Phe diet before 3 months of age
• PKU subjects (with or without current AAM use) with an increased Phe-tolerance/intake due to:
• Mild PKU phenotype
• BH4 treatment
• If treated with BH4, PKU subjects should be on a stable BH4 treatment for at least 26 consecutive weeks up to start test product intake
• Age≥12 years
• If subjects (irrespective whether BH4 users or mild PKU) use amino-acid mixture(s; AAM), then a maximum of 25 Protein Equivalents (PE) derived from the AAM per day applies and usage on a daily basis for at least 26 consecutive weeks up to Visit 1
• If subjects (irrespective whether BH4 users or mild PKU) use AAMs they should be capable and willing to substitute their current AAM(s; maximum of 25 PE per day) with one portion of the test product per day
• If subjects (irrespective whether BH4 users or mild PKU) use omega-3, antioxidant, and/or vitamin supplements, to stop usage of the supplements and be able and willing to substitute with the test product
• Willing and able to comply with study procedures
• Willing and able to provide informed consent (and assent in case of minors if required by local law/regulations)
• For women of childbearing potential: not to have the intention to become pregnant during the study

You may not qualify if:

• For women: Currently pregnant or lactating
• Current or prior use of the test product within six weeks prior to entry into the study
• Concurrent conditions (including renal failure and severe hepatic failure) and medication that could interfere with participation, outcome parameters or safety (as determined by Investigator)
• Psychotropic medication (i.e. medication affecting the nervous system) and inotropic medication
• Any condition creating high risk of poor compliance with study
• Participation in any other studies involving investigational or marketed products concomitantly or within six weeks prior to entry into the study. Except for studies related to Kuvan® (synthetic tetrahydrobiopterin (BH4)) without diagnostic, therapeutic or experimental intervention.

Sponsors & Collaborators

• Nutricia Research: lead

Study Sites (3)

University hospital Leipzig

Leipzig, Germany

Location

University hospital Münster

Münster, Germany

Location

University Medical Center Groningen (UMCG)

Groningen, Netherlands

Location

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 19, 2018
• First Posted: December 17, 2018
• Study Start: June 26, 2019
• Primary Completion: May 27, 2021
• Study Completion: May 27, 2021
• Last Updated: December 9, 2021

Record last verified: 2021-12

Data Sharing

• IPD Sharing: Will not share

Locations

DE (2); NL (1)