PKU Clinical Trial
— ECOPHENOfficial title:
Study of a National Cohort of Adult Patients With Phenylketonuria
Verified date | April 2021 |
Source | University Hospital, Tours |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 220 |
Est. completion date | July 6, 2020 |
Est. primary completion date | February 15, 2020 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 18 Years and older |
Eligibility | Inclusion Criteria: - Patient age = 18 years - Phenylketonuria (PKU) or moderate persistent Hyperphenylalaninemia (HMP) diagnosed by neonatal screening - Reading and signing an informed consent - Membership of a social security system Exclusion Criteria: - History of severe neurological definite diagnosis could interfere with the detection of neurological disorders associated with PKU |
Country | Name | City | State |
---|---|---|---|
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 | St-ETIENNE | |
France | CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne | Toulouse | |
France | CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition | Tours | Centre |
France | University Hospital of NANCY | Vandoeuvre Les Nancy |
Lead Sponsor | Collaborator |
---|---|
University Hospital, Tours | Institut National de la Santé Et de la Recherche Médicale, France |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Evaluate a possible cognitive decline and incidence of neurological complications | 5 years | ||
Secondary | Determine the prognostic factors of neurological complications | Determine the prognostic factors of these complications, and the impact of the disease and its management on the quality of life (SF-36) and social and professional integration of patients. | 5 years |
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