Study of a National Cohort of Adult Patients With Phenylketonuria

NCT ID: NCT01619722

Last Updated: 2021-04-09

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 220 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2012-03-15
• Study Completion Date: 2020-07-06

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

Conditions

PKU; Hyperphenylalaninemia

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Institut National de la Santé Et de la Recherche Médicale, France

OTHER_GOV

Sponsor Role: collaborator

University Hospital, Tours

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

François MAILLOT, Pr

Role: STUDY_DIRECTOR

CHRU TOURS

Locations

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

Countries

France

Other Identifiers

PHRN10/FM-ECOPHEN

Identifier Type: -

Identifier Source: org_study_id