Clinical trial NCT01619722: Study of a National Cohort of Adult Patients With Phenylketonuria
Official title: Study of a National Cohort of Adult Patients With Phenylketonuria
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: PKU
Hyperphenylalaninemia
Keywords: PKU
Osteoporosis
HMP
Life quality
Neuropsychological
Nutritial evaluation
Phenylketonuria
Hyperphenylalaninemia
Lead sponsor: University Hospital, Tours
Sponsor class: OTHER
Collaborators: name: Institut National de la Santé Et de la Recherche Médicale, France
First posted: 2012-06-14
Enrollment: 220
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All adult patients with PKU during a consultation in Hospital care centers.

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

Eligibility criteria: 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

Primary outcomes:
measure: Evaluate a possible cognitive decline and incidence of neurological complications
timeFrame: 5 years
Secondary outcomes:
measure: Determine the prognostic factors of neurological complications
timeFrame: 5 years
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: Bordeaux
country: France
facility: CHU_Service de Médecine Interne Nutrition A2-Hôpital du Haut Levèque
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: Dijon
country: France
facility: CHU de Dijon--Hôpital des Enfants-Centre de Génétique
city: Grenoble
country: France
facility: CHU de Grenoble-Hôpital MICHALLON-Unité de Neurologie Générale
city: Lille
country: France
facility: CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie
city: Marseille
country: France
facility: APHM-Hôpital de la Conception -Médecine Interne
city: Nantes
country: France
facility: CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme
city: Paris
country: France
facility: Hôpital Necker Enfants Malades, APHP-Maladies Métaboliques -Service de Pédiatrie
city: Rennes
country: France
facility: CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique
city: Rouen
country: France
facility: CHU de Rouen-Service de Pédiatrie
city: St-ETIENNE
country: France
facility: CHU de St Etienne-Hôpital Nord-Service de Pédiatrie
city: Toulouse
country: France
facility: CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne
city: Vandoeuvre Les Nancy
country: France
facility: University Hospital of NANCY
Study officials:
affiliation: CHRU TOURS
name: François MAILLOT, Pr
role: STUDY_DIRECTOR
References: