Phenylketonuria
Conditions
Keywords
Low grade inflammation, Cardiovascular, Phenylketonuria
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.
Interventions
BIOLOGICALBlood samples
Plasmatic cytokine and plasmatic CRP assay will be realised using luminex in both arms. IL2, IL10,INF gamma, IL, IL6, ILB, TNF alpha will be analysed.
Sponsors
University Hospital, Tours
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
SCREENING
Masking
NONE
Intervention model description
One group of healthy subject and one group of patient with phenylketonuria. Primary objective is to compare inflammation profile between the two groups through cytokine assay.
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
(patient with PKU) * Age \>/= 18 years old * Phenylketonuria diagnosis * Fasting condition * Registered with a social security system * Patient consent Inclusion Criteria (healthy volunteer) * Age \>/= 18 years old * No metabolic condition * Fasting condition * Paired to patient with phenylketonuria already included according to age, sex and BMI class * Registered with a social security system * Volunteer consent
Exclusion criteria
, common to healthy volunteer and patient with phenylketonuria * Pregnant and lactating women * Subject to legal protection measures. * Chronic or acute inflammatory disease * Fever on inclusion * Undergoing anti inflammatory treatment * Surgery in the previous months * Diabetes * Included in other therapeutic trial
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| Plasma concentrations of phenylalanine | At the inclusion | Plasmatic phenylalanine assay in PKU patients |
| Plasma concentrations of tyrosine | At the inclusion | Plasma tyrosine assay in PKU patients |
Countries
France
Outcome results
None listed