Study of Low-grade Systemic Inflammation in Adult Patients With Phenylketonuria

Not Applicable

Completed

• Conditions: Phenylketonuria
• Interventions: Biological: Blood samples

• Registration Number: NCT04879277
• Lead Sponsor: University Hospital, Tours

Brief Summary

Patient suffering from phenylketonuria have chronic hyperphenylalaninemia. Hyperphenylalaninemia is known to be toxic to central nervous system and cardiovascular system in particular through oxydative stress.

In this context, research of low grade systemic inflammation through cytokine assay appears legitimate.

The primary outcome of this study is to describe inflammation profile of patients with phenylketonuria.

Detailed Description

Phenylketonuria (PKU) is a metabolic hereditary disease due to lack of activity of phenylalanine hydroxylase. This lack of activity whom origin is genetic, results in chronic hyperphenylalaninemia, toxic to central nervous system and cardiovascular system. Without treatment, PKU is responsible for mental retardation in children.

PKU is subject to systematic screening at birth and if diagnosis is confirmed a specific diet controlled in phenylalanine is prescribed for infant. This diet allows a neurodevelopment as closed as healthy infant. Despite this diet, neurological and systemic complications are more often reported at adult age. It is therefore recommended to follow patient regularly in order to search for those complications.

In a PKU murine model, it has been shown (cf references) that a low grade systematic inflammation exists and was reversible after dietetic treatment using glycomacropeptide (through a probiotic effect of this protein naturally phenylalanine free). Existence of this low grade systematic inflammation, evaluated by plasmatic cytokine screening (TNF alpha IL2, IL6, IL10, IFNgamma, IL1Alpha, IL1Beta and protein C reactive) has not been proven in humans to date.

Primary outcome of this study is to characterize this low grade systemic inflammation profile in patient with PKU.

Study Timeline

• Study First Submitted: 2021-05-04
• Study First Submitted QC: 2021-05-04
• Study First Posted: 2021-05-10
• Study Start: 2021-05-26
• Primary Completion: 2021-08-25
• Study Completion: 2021-08-25
• Status Verified: 2021-09
• Last Update Submitted: 2021-09-29
• Last Update Posted: 2021-09-30

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 40

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Healthy subject	Blood samples	The intervention, specific to the study, is to take blood samples on patients healthy volunteers. Healthy subject will be paired to patient with phenylketonuria according to body mass index and sex.
Patient with phenylketonuria	Blood samples	The intervention, specific to the study, is to take blood samples on patients with phenylketonuria

Primary Outcome Measures

Name	Time	Method
Plasma concentrations of pro-inflammatory cytokines	At the inclusion	Plasmatic pro-inflammatory cytokine assay in PKU patients and healthy subjects.
Plasma concentrations of CRP	At the inclusion	Plasmatic CRP assay in PKU patients and healthy subjects.

Secondary Outcome Measures

Name	Time	Method
Plasma concentrations of tyrosine	At the inclusion	Plasma tyrosine assay in PKU patients
Plasma concentrations of phenylalanine	At the inclusion	Plasmatic phenylalanine assay in PKU patients

Trial Locations

Locations (2)

Internal Medicine Service, University Hospital, Tours; 🇫🇷 Tours, France

Clinical investigation center, University Hospital, Tours; 🇫🇷 Tours, France