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

May 20, 2026 updated by: University Hospital, Tours
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

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 (Estimated)

220

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

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
      • Saint-Etienne, France, 42055
        • CHU de St Etienne-Hôpital Nord-Service de Pédiatrie
      • Toulouse, France, 31059
        • CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne
      • Vandœuvre-lès-Nancy, France, 54500
        • University Hospital of Nancy
    • Centre-Val de Loire
      • Tours, Centre-Val de Loire, France, 37044
        • CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Tours

Collaborators

Institut National de la Santé Et de la Recherche Médicale, France

Investigators

  • Study Director: François MAILLOT, Pr, CHRU Tours

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

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 (Estimated)

June 14, 2012

Study Record Updates

Last Update Posted (Actual)

May 26, 2026

Last Update Submitted That Met QC Criteria

May 20, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PHRN10/FM-ECOPHEN

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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