Study of a National Cohort of Adult Patients With Phenylketonuria

Completed

• Conditions: PKU; Hyperphenylalaninemia

• Registration Number: NCT01619722
• Lead Sponsor: University Hospital, Tours

Brief 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.

Detailed Description

The aim off this study is to follow a French cohort of young adult patients with PKU to:

* Describe the evolution of the disease in adulthood and neurological complications associated neuropsychological detect, investigate the prognostic factors for complications

* Describe the metabolic balance of patients

* Collect data on nutritional status,

* Detect osteoporosis

* Studying social integration and quality of life of adult patients with PKU

* Collect biological samples for further study (markers of bone turnover)

Design:

Cohort :

Duration of the inclusion period: 2 years Duration of subject participation: 5 years Total duration of the study: 7 years

JUDGING CRITERIA:

* Complications associated with PKU in adult

* Evolution of neuropsychometric scores

* Bone mineral density by densitometry

* Measuring the quality of life of patients

Study Timeline

• Study Start: 2012-03-15
• Study First Submitted: 2012-06-12
• Study First Submitted QC: 2012-06-13
• Study First Posted: 2012-06-14
• Primary Completion: 2020-02-15
• Study Completion: 2020-07-06
• Status Verified: 2021-04
• Last Update Submitted: 2021-04-08
• Last Update Posted: 2021-04-09

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 220

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Evaluate a possible cognitive decline and incidence of neurological complications	5 years

Secondary Outcome Measures

Name	Time	Method
Determine the prognostic factors of neurological complications	5 years	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.

Trial Locations

Locations (16)

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

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

CHU de Grenoble-Hôpital MICHALLON-Unité de Neurologie Générale; 🇫🇷 Grenoble, 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_Service de Médecine Interne Nutrition A2-Hôpital du Haut Levèque; 🇫🇷 Bordeaux, France

CHU de Dijon--Hôpital des Enfants-Centre de Génétique; 🇫🇷 Dijon, France

CHU de Rouen-Service de Pédiatrie; 🇫🇷 Rouen, France

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

APHM-Hôpital de la Conception -Médecine Interne; 🇫🇷 Marseille, France

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

University Hospital of NANCY; 🇫🇷 Vandoeuvre Les Nancy, France

CHU de St Etienne-Hôpital Nord-Service de Pédiatrie; 🇫🇷 St-ETIENNE, France