Clinical trial NCT03924180: Glytactin EfficiEncy in Non or Insufficiently Treated Adult PHENylketonuria Patients
Official title: Glytactin EfficiEncy in Non or Insufficiently Treated Adult PHENylketonuria Patients
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Adult Phenylketonuria Non Treated Patients
Keywords: Amino acid
GMP
PKU
Lead sponsor: University Hospital, Tours
Sponsor class: OTHER
First posted: 2019-04-23
Enrollment: 13
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Intervention model description: Multicenter randomized controlled trial performed in open and 2 parallel groups: "GMP" versus "amino acids" group
Primary purpose: TREATMENT

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.

Eligibility criteria: 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

Primary outcomes:
measure: Rate of phenylalaninemia on blotter
timeFrame: 6 months
Secondary outcomes:
measure: Therapeutic compliance
timeFrame: 6 months
measure: Evolution of neuropsychological tests
timeFrame: 6 months
measure: MRI brain M0, M6 evolution
timeFrame: 6 months
measure: Bone remodeling markers
timeFrame: 6 months
measure: Evolution of quality of life (PKU QoL score), mood (POMS test - Fillion 1999), at M0, M3, M6.
timeFrame: 6 months
measure: Nutritional and clinical markers evaluated at inclusion and 6 months of treatment
timeFrame: 6 months
measure: Gastrointestinal tolerance at M3 and M6
timeFrame: 6 months
Other outcomes:
Locations:
city: Tours
country: France
facility: CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition
state: Centre
city: Angers
country: France
facility: CHU-ANGERS -Médecine Interne
city: Brest
country: France
facility: CHU du Morvan-Département de Pédiatrie et génétique médicale,
city: Bron
country: France
facility: Hôpital Femme-Mère-Enfant-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon
city: Lille
country: France
facility: CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie
city: Nantes
country: France
facility: CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme
city: Rennes
country: France
facility: CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique
Study officials:
affiliation: University Hospital of TOURS
name: Adrien BIGOT, MD-PHD
role: STUDY_DIRECTOR
References: