Study of a National Cohort of Adult Patients With Phenylketonuria (ECOPHEN)

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.

Study Overview

• Status: Completed
• Conditions: PKU; Hyperphenylalaninemia

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 Type: Observational
• Enrollment (Anticipated): 220

Contacts and Locations

Study Locations

• France
  • Angers, France, 49933
    • CHU-ANGERS -Médecine Interne
  • Bordeaux, France, 33000
    • CHU_Service de Médecine Interne Nutrition A2-Hôpital du Haut Levèque
  • Brest, France, 29609
    • CHU du Morvan-Département de Pédiatrie et génétique médicale,
  • Bron, France, 69677
    • Hôpital Femme-Mère-Enfant-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon
  • Dijon, France, 21079
    • CHU de Dijon--Hôpital des Enfants-Centre de Génétique
  • Grenoble, France, 38043
    • CHU de Grenoble-Hôpital MICHALLON-Unité de Neurologie Générale
  • Lille, France, 59037
    • CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie
  • Marseille, France, 13005
    • APHM-Hôpital de la Conception -Médecine Interne
  • Nantes, France, 44000
    • CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme
  • Paris, France, 75743
    • Hôpital Necker Enfants Malades, APHP-Maladies Métaboliques -Service de Pédiatrie
  • Rennes, France, 35203
    • CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique
  • Rouen, France, 76031
    • CHU de Rouen-Service de Pédiatrie
  • St-ETIENNE, France, 42055
    • CHU de St Etienne-Hôpital Nord-Service de Pédiatrie
  • Toulouse, France, 31059
    • CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne
  • Vandoeuvre Les Nancy, France, 54500
    • University Hospital Of Nancy
  • Centre
    • Tours, Centre, France, 37044
      • CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

All adult patients with PKU during a consultation in Hospital care centers.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Evaluate a possible cognitive decline and incidence of neurological complications	5 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: University Hospital, Tours
• Collaborators: Institut National de la Santé Et de la Recherche Médicale, France
• Investigators: Study Director: François MAILLOT, Pr, CHRU-TOURS

Study record dates

Study Major Dates

• Study Start (Actual): March 15, 2012
• Primary Completion (Actual): February 15, 2020
• Study Completion (Actual): July 6, 2020

Study Registration Dates

• First Submitted: June 12, 2012
• First Submitted That Met QC Criteria: June 13, 2012
• First Posted (Estimate): June 14, 2012

Study Record Updates

• Last Update Posted (Actual): April 9, 2021
• Last Update Submitted That Met QC Criteria: April 8, 2021
• Last Verified: April 1, 2021

More Information

Terms related to this study

• Keywords: Osteoporosis; Life quality; Phenylketonuria; PKU; Hyperphenylalaninemia; HMP; Neuropsychological; Nutritial evaluation
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: PHRN10/FM-ECOPHEN