Study of a National Cohort of Adult Patients With Phenylketonuria

PKU Clinical Trial

— ECOPHEN  

Official title:

Study of a National Cohort of Adult Patients With Phenylketonuria

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01619722
• Other study ID #: PHRN10/FM-ECOPHEN
• Status: Completed
• Start date: March 15, 2012
• Est. completion date: July 6, 2020

Study information

• Verified date: April 2021
• Source: University Hospital, Tours
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• 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

Related Conditions & MeSH terms

• Hyperphenylalaninemia
• Phenylketonurias
• PKU

Locations

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

Sponsors (2)

Lead Sponsor	Collaborator
University Hospital, Tours	Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

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