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

This study is currently recruiting participants.
Verified January 2013 by University Hospital, Tours
Sponsor:
Collaborator:
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
University Hospital, Tours
ClinicalTrials.gov Identifier:
NCT01619722
First received: June 12, 2012
Last updated: January 4, 2013
Last verified: January 2013
History of Changes
  Purpose

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.


Condition
PKU
Hyperphenylalaninemia
BMD
Quality of Life

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Study of a National Cohort of Adult Patients With Phenylketonuria

Resource links provided by NLM:

MedlinePlus related topics: Phenylketonuria
U.S. FDA Resources

Further study details as provided by University Hospital, Tours:

Biospecimen Retention:   Samples Without DNA

Plasma an serum at the beginning of study and at 5 years


Estimated Enrollment: 220
Study Start Date: February 2012
Estimated Study Completion Date: February 2019
Estimated Primary Completion Date: February 2019 (Final data collection date for primary outcome measure)
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

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

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

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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01619722

Contacts
Contact: François MAILLOT, Pr +33247479801 maillot@med.univ-tours.fr
Contact: Wiebe de JONG, Mr +33247474680 w.de-jong@med.univ-tours.fr

Locations
France
CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition Recruiting
Tours, Centre, France, 37044
Contact: Wiebe de JONG, Mr     +33247474680     w.de-jong@med.univ-tours.fr    
Contact: Julie MAGNANT, PHD     +33234389584     magnant@med.univ-tours.fr    
Principal Investigator: François MAILLOT, Pr-PHD            
Sub-Investigator: Julie MAGNANT, PHD            
University Hospital of NANCY Recruiting
Vandoeuvre Les Nancy, France, 54500
Contact: François FEILLET, MD-PHD     +33383154796     f.feillet@chu-nancy.fr    
Principal Investigator: François FEILLET, MD-PHD            
Sponsors and Collaborators
University Hospital, Tours
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
Study Director: François MAILLOT, Pr CHRU-TOURS
  More Information

No publications provided

Responsible Party: University Hospital, Tours
ClinicalTrials.gov Identifier: NCT01619722     History of Changes
Other Study ID Numbers: PHRN10/FM-ECOPHEN
Study First Received: June 12, 2012
Last Updated: January 4, 2013
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by University Hospital, Tours:
PKU
Osteoporosis
BH4
HMP
Life quality
 Neuropsycogical
Nutritinal evaluation
Phenylketonuria
Hyperphenylalaninemia

Additional relevant MeSH terms:
Phenylketonurias
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
 Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on May 16, 2013