Glytactin EfficiEncy in Non or Insufficiently Treated Adult PHENylketonuria Patients

Not Applicable

Completed

• Conditions: Adult Phenylketonuria Non Treated Patients
• Interventions: Dietary Supplement: Dietary Supplement for PKU patients

• Registration Number: NCT03924180
• Lead Sponsor: University Hospital, Tours

Brief Summary

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

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.

Study Timeline

• Study First Submitted: 2019-04-22
• Study First Submitted QC: 2019-04-22
• Study First Posted: 2019-04-23
• Study Start: 2019-09-19
• Primary Completion: 2022-03-14
• Status Verified: 2022-09
• Study Completion: 2022-09-05
• Last Update Submitted: 2022-09-20
• Last Update Posted: 2022-09-21

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 13

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
GMP - Dietary Supplement for PKU patients	Dietary Supplement for PKU patients	Glycomacropeptides -GMP Glytactin
Control -Amino acids mixtures	Dietary Supplement for PKU patients	Mixtures of conventional amino acids.

Primary Outcome Measures

Name	Time	Method
Rate of phenylalaninemia on blotter	6 months	Rate of phenylalaninemia on blotter measured bi-monthly during the 6 months of the study.

Secondary Outcome Measures

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

Trial Locations

Locations (7)

CHU du Morvan-Département de Pédiatrie et génétique médicale,; 🇫🇷 Brest, France

CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie; 🇫🇷 Lille, France

CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition; 🇫🇷 Tours, Centre, France

CHU-ANGERS -Médecine Interne; 🇫🇷 Angers, France

Hôpital Femme-Mère-Enfant-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon; 🇫🇷 Bron, France

CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique; 🇫🇷 Rennes, France

CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme; 🇫🇷 Nantes, France