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

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by University Hospital, Tours
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
University Hospital, Tours Identifier:
First received: June 12, 2012
Last updated: July 29, 2014
Last verified: July 2014
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 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:

Further study details as provided by University Hospital, Tours:

Primary Outcome Measures:
  • Evaluate a possible cognitive decline and incidence of neurological complications [ Time Frame: 5 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Determine the prognostic factors of neurological complications [ Time Frame: 5 years ] [ Designated as safety issue: No ]
    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.

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)


Cohort :

Duration of the inclusion period: 2 years Duration of subject participation: 5 years Total duration of the study: 7 years


  • Complications associated with PKU in adult
  • Evolution of neuropsychometric scores
  • Bone mineral density by densitometry
  • Measuring the quality of life of patients

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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.

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01619722

Contact: François MAILLOT, Pr +33247479801
Contact: Wiebe de JONG +33247474680

CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition Recruiting
Tours, Centre, France, 37044
Contact: Wiebe de JONG    +33247474680   
Contact: Penelope HODGES    +33218370806   
Principal Investigator: François MAILLOT, MD-PHD         
Sub-Investigator: Julie MAGNANT, MD-PHD         
CHU-ANGERS -Médecine Interne Recruiting
Angers, France, 49933
Contact: Christian LAVIGNE, MD-PHD    +330241882311   
Principal Investigator: Christian LAVIGNE, MD-PHD         
Sub-Investigator: Magalie BARTH, MD-PHD         
CHU_Service de Médecine Interne Nutrition A2-Hôpital du Haut Levèque Recruiting
Bordeaux, France, 33000
Contact: Vincent RIGALLEAU, MD-PHD    0557656078   
Principal Investigator: Vincent RIGALLEAU, MD-PHD         
CHU du Morvan-Département de Pédiatrie et génétique médicale, Recruiting
Brest, France, 29609
Contact: Loïc de PARSCAU, MD-PHD    +330298223381   
Principal Investigator: Loïc de PARSCAU, MD-PHD         
Hôpital Femme-Mère-Enfant-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon Recruiting
Bron, France, 69677
Contact: Alian FOUILHOUX, MD-PHD    +330472129545   
Contact: Sybil CHARRIERE, MD-PHD    +330472681331   
Principal Investigator: Alain FOUILHOUX, MD-PHD         
Sub-Investigator: Sybil CHARRIERE, MD-PHD         
CHU de Dijon--Hôpital des Enfants-Centre de Génétique Recruiting
Dijon, France, 21079
Contact: Christel THAUVIN-ROBINET    +330380295313   
Principal Investigator: Christel THAUVIN-ROBINET, MD-PHD         
Sub-Investigator: Vanessa LEGUY-SEGUIN, MD-PHD         
CHU de Grenoble-Hôpital MICHALLON-Unité de Neurologie Générale Recruiting
Grenoble, France, 38043
Contact: Gérard BESSON, MD-PHD    +330476765792   
Principal Investigator: Gérard BESSON, MD-PHD         
CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie Recruiting
Lille, France, 59037
Contact: Claire DOUILLARD, MD-PHD    +330320445962 ext 30585   
Contact: Maria-Claire MIGAUD, MD-PHD    +330320445962 ext 30584   
Principal Investigator: Claire DOUILLARD, MD-PHD         
Sub-Investigator: Maria-Claire MIGAUD, MD-PHD         
APHM-Hôpital de la Conception -Médecine Interne Recruiting
Marseille, France, 13005
Contact: Karin MAZODIER, Md-MHS    +33670930992   
Principal Investigator: Karin MAZODIER, MD-PHD         
CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme Recruiting
Nantes, France, 44000
Contact: Alice KÜSTER, MD-PHD    0240087678   
Contact: Céline ROBIN    0240087804   
Principal Investigator: Alice KÜSTER, MD-PHD         
Hôpital Necker Enfants Malades, APHP-Maladies Métaboliques -Service de Pédiatrie Recruiting
Paris, France, 75743
Contact: Jean-Baptiste ARNOUX, MD-PHD    +330144494852   
Principal Investigator: Jean-Baptiste ARNOUX, MD-PHD         
CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique Recruiting
Rennes, France, 35203
Contact: Sylvie ODENT, MD-PHD    +330299266744   
Principal Investigator: Sylvie ODENT, MD-PHD         
CHU de Rouen-Service de Pédiatrie Recruiting
Rouen, France, 76031
Contact: Cécile DUMESNIL, MD-PHD    +330232888191   
Principal Investigator: Cécile DUMESNIL, MD-PHD         
Sub-Investigator: Hervé LEVESQUE, MD-PHD         
CHU de St Etienne-Hôpital Nord-Service de Pédiatrie Recruiting
St-ETIENNE, France, 42055
Contact: Claire GAY, MD-PHD    +330477828038   
Principal Investigator: Claire GAY, MD-PHD         
CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne Recruiting
Toulouse, France, 31059
Contact: Leonardo ASTUDILLO, MD-PHD    +330561779677   
Principal Investigator: Leonardo ASTUDILLO, MD-PHD         
University Hospital of NANCY Recruiting
Vandoeuvre Les Nancy, France, 54500
Contact: François FEILLET, MD-PHD    +33383154796   
Principal Investigator: François FEILLET, MD-PHD         
Sponsors and Collaborators
University Hospital, Tours
Institut National de la Santé Et de la Recherche Médicale, France
Study Director: François MAILLOT, Pr CHRU-TOURS
  More Information

Responsible Party: University Hospital, Tours Identifier: NCT01619722     History of Changes
Other Study ID Numbers: PHRN10/FM-ECOPHEN 
Study First Received: June 12, 2012
Last Updated: July 29, 2014
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by University Hospital, Tours:
Life quality
Nutritial evaluation

Additional relevant MeSH terms:
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 processed this record on October 21, 2016