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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT01619722
Other study ID # PHRN10/FM-ECOPHEN
Secondary ID
Status Completed
Phase
First received
Last updated
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
Health authority
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

Study Design


Related Conditions & MeSH terms


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
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