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Study of a National Cohort of Adult Patients With Phenylketonuria
Sponsor: University Hospital, Tours
Summary
Phenylketonuria (PKU) is a metabolic disease of genetic origin. This is a rare disease (incidence 1 / 16000 births) which is the subject of a systematic neonatal screening in France, because it is treatable by a diet low in phenylalanine. This plan is required upon confirmation of diagnosis and continued until the age of 8 years. The current trend is to continue the scheme at least until adolescence. Unlike other countries, in France there are no recommendations for a plan "for life". Knowledge about the natural history of PKU in adulthood, the effects of pediatric age, the frequency of complicated shapes, and prognostic factors are poorly documented. On the other hand, there is no consensus on the therapeutic management of this disease in adulthood and monitoring that could be directed towards the detection of neurological disorders and nutrition. Social integration and quality of life of adults PKU patients living in France have not been studied.
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
220
Start Date
2012-03-15
Completion Date
2020-07-06
Last Updated
2026-05-26
Healthy Volunteers
No
Conditions
Locations (16)
CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition
Tours, Centre-Val de Loire, France
CHU-ANGERS -Médecine Interne
Angers, France
CHU_Service de Médecine Interne Nutrition A2-Hôpital du Haut Levèque
Bordeaux, France
CHU du Morvan-Département de Pédiatrie et génétique médicale,
Brest, France
Hôpital Femme-Mère-Enfant-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon
Bron, France
CHU de Dijon--Hôpital des Enfants-Centre de Génétique
Dijon, France
CHU de Grenoble-Hôpital MICHALLON-Unité de Neurologie Générale
Grenoble, France
CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie
Lille, France
APHM-Hôpital de la Conception -Médecine Interne
Marseille, France
CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme
Nantes, France
Hôpital Necker Enfants Malades, APHP-Maladies Métaboliques -Service de Pédiatrie
Paris, France
CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique
Rennes, France
CHU de Rouen-Service de Pédiatrie
Rouen, France
CHU de St Etienne-Hôpital Nord-Service de Pédiatrie
Saint-Etienne, France
CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne
Toulouse, France
University Hospital of NANCY
Vandœuvre-lès-Nancy, France