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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01619722
Recruitment Status : Completed
First Posted : June 14, 2012
Last Update Posted : April 9, 2021
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
University Hospital, Tours

Brief 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.

Condition or disease
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)


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

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Study Type : Observational
Estimated Enrollment : 220 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Study of a National Cohort of Adult Patients With Phenylketonuria
Actual Study Start Date : March 15, 2012
Actual Primary Completion Date : February 15, 2020
Actual Study Completion Date : July 6, 2020

Primary Outcome Measures :
  1. Evaluate a possible cognitive decline and incidence of neurological complications [ Time Frame: 5 years ]

Secondary Outcome Measures :
  1. Determine the prognostic factors of neurological complications [ Time Frame: 5 years ]
    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

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01619722

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CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition
Tours, Centre, France, 37044
CHU-ANGERS -Médecine Interne
Angers, France, 49933
CHU_Service de Médecine Interne Nutrition A2-Hôpital du Haut Levèque
Bordeaux, France, 33000
CHU du Morvan-Département de Pédiatrie et génétique médicale,
Brest, France, 29609
Hôpital Femme-Mère-Enfant-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon
Bron, France, 69677
CHU de Dijon--Hôpital des Enfants-Centre de Génétique
Dijon, France, 21079
CHU de Grenoble-Hôpital MICHALLON-Unité de Neurologie Générale
Grenoble, France, 38043
CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie
Lille, France, 59037
APHM-Hôpital de la Conception -Médecine Interne
Marseille, France, 13005
CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme
Nantes, France, 44000
Hôpital Necker Enfants Malades, APHP-Maladies Métaboliques -Service de Pédiatrie
Paris, France, 75743
CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique
Rennes, France, 35203
CHU de Rouen-Service de Pédiatrie
Rouen, France, 76031
CHU de St Etienne-Hôpital Nord-Service de Pédiatrie
St-ETIENNE, France, 42055
CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne
Toulouse, France, 31059
University Hospital of NANCY
Vandoeuvre Les Nancy, France, 54500
Sponsors and Collaborators
University Hospital, Tours
Institut National de la Santé Et de la Recherche Médicale, France
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Study Director: François MAILLOT, Pr CHRU-TOURS
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Responsible Party: University Hospital, Tours Identifier: NCT01619722    
Other Study ID Numbers: PHRN10/FM-ECOPHEN
First Posted: June 14, 2012    Key Record Dates
Last Update Posted: April 9, 2021
Last Verified: April 2021
Keywords provided by University Hospital, Tours:
Life quality
Nutritial evaluation
Additional relevant MeSH terms:
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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