Glytactin EfficiEncy in Non or Insufficiently Treated Adult PHENylketonuria Patients

Study Overview
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Brief Summary
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Phenylketonuria is the most common inherited metabolic disease in France and is screened for neonatal exposure. Management consists of a strict and restrictive hypoproteic diet and the intake of amino acid substitutes and dietary supplements free of phenylalanine.One of the major difficulties, which is the source of many treatment failures, is the inappetence of the amino acid supplements required during a strict hypoproteic diet. New formulations, Glycomacropeptides (GMP), have recently appeared and are considered more palatable than conventional amino acid mixtures.

Detailed Description
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Phenylketonuria is the most common inherited metabolic disease in France and is screened for neonatal exposure. Management consists of a strict and restrictive hypoproteic diet and the intake of amino acid substitutes and dietary supplements free of phenylalanine. If the benefits of treatment are indisputable in children in terms of cognitive prognosis, this benefit is discussed once brain development is complete, especially as many adult patients are no longer treated. However, cognitive, neurological and reversible white matter disorders undergoing treatment are increasingly reported in adult phenylketonurics. As a result, recent European recommendations advocate the maintenance of life-long treatment. One of the major difficulties, which is the source of many treatment failures, is the inappetence of the amino acid supplements required during a strict hypoproteic diet. New formulations, Glycomacropeptides (GMP), have recently appeared and are considered more palatable than conventional mixtures. PRIMARY OBJECTIVE: Demonstrate a better metabolic balance under GMP treatment than a conventional amino acid mixture in adult phenylketonuric patients when resuming treatment.

Official Title
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Glytactin EfficiEncy in Non or Insufficiently Treated Adult PHENylketonuria Patients

Conditions
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Adult Phenylketonuria Non Treated Patients

Intervention / Treatment
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* Dietary Supplement: Dietary Supplement for PKU patients


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient age ≥18 years on an empty stomach Phenylketonuric patient Patient with Phenylalaninemia ≥ 900μmol / L on a blotter performed during the screening period (or average of blotter results ≥900 μmol / L if several blotters performed during the screening period) Untreated or insufficiently treated patient: not taking or insufficiently Dietary foods for special medical purposes for his PKU, regardless of diet, at the discretion of the investigator Patient having signed a free, informed and express consent Patient requiring a diet restricted in natural proteins Exclusion Criteria: Protected patient: court bail Patient with concomitant diseases / conditions that may compromise the study, at the discretion of the investigator Participated in a clinical trial or trial to evaluate PKU foods or treatments in the last 7 days prior to inclusion or planned during the next 6 months Participation in an interventional study with health products during the next 6 months Pregnancy project within 6 months, pre-conception diet, pregnancy or breastfeeding Refusal to consume only validated complements for the protocol Phenylketonuria undergoing treatment with BH4 Allergy to the product under study

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Randomized
Intervention Model: Parallel Assignment
Interventional Model Description: Multicenter randomized controlled trial performed in open and 2 parallel groups: GMP versus amino acids group
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: GMP - Dietary Supplement for PKU patients<br>Glycomacropeptides -GMP Glytactin | Dietary Supplement: Dietary Supplement for PKU patients<br>* For both treatment groups, the objective in total protein will be 1g / kg / day of ideal weight, in 3-6 doses / day, including natural proteins and supplemented by the products under study.<br>|
| Active Comparator: Control -Amino acids mixtures<br>Mixtures of conventional amino acids. | Dietary Supplement: Dietary Supplement for PKU patients<br>* For both treatment groups, the objective in total protein will be 1g / kg / day of ideal weight, in 3-6 doses / day, including natural proteins and supplemented by the products under study.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Rate of phenylalaninemia on blotter | Rate of phenylalaninemia on blotter measured bi-monthly during the 6 months of the study. | 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Therapeutic compliance | Therapeutic compliance measured after 3 months and 6 months of treatment | 6 months | 
| Evolution of neuropsychological tests | Neuropsychological tests measured after 3 months and 6 months of treatment | 6 months | 
| MRI brain M0, M6 evolution | MRI brain evolution between inclusion and 6 months of treatment | 6 months | 
| Bone remodeling markers | Bone remodeling markers at inclusion and 6 months of treatment | 6 months | 
| Evolution of quality of life (PKU QoL score), mood (POMS test - Fillion 1999), at M0, M3, M6. | Evolution of quality of life scores at inclusion, 3 months and 6 months of treatment | 6 months | 
| Nutritional and clinical markers evaluated at inclusion and 6 months of treatment | Evolution of nutritional and clinical markers at inclusion and 6 months of treatment | 6 months | 
| Gastrointestinal tolerance at M3 and M6 | Evolution of Gastrointestinal tolerance after 3 months and 6 months of treatment | 6 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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GMP, Amino acid, PKU