French study tracks adult PKU patients to uncover hidden neurological risks

NCT ID NCT01619722

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study followed 220 adults with phenylketonuria (PKU) in France to learn how the disease affects them later in life. Researchers looked for signs of cognitive decline, neurological problems, and how the disease impacts quality of life and social integration. No new treatment was tested; the goal was simply to gather information to guide future care.

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Conditions

The condition(s) this trial relates to.

hyperphenylalaninemia due to tetrahydrobiopterin deficiency osteoporosis phenylketonuria

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • APHM-Hôpital de la Conception -Médecine Interne

    Marseille, 13005, France

  • CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition

    Tours, Centre-Val de Loire, 37044, France

  • CHU de Dijon--Hôpital des Enfants-Centre de Génétique

    Dijon, 21079, France

  • CHU de Grenoble-Hôpital MICHALLON-Unité de Neurologie Générale

    Grenoble, 38043, France

  • CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie

    Lille, 59037, France

  • CHU de Rouen-Service de Pédiatrie

    Rouen, 76031, France

  • CHU de St Etienne-Hôpital Nord-Service de Pédiatrie

    Saint-Etienne, 42055, France

  • CHU du Morvan-Département de Pédiatrie et génétique médicale,

    Brest, 29609, France

  • CHU-ANGERS -Médecine Interne

    Angers, 49933, France

  • CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique

    Rennes, 35203, France

  • CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme

    Nantes, 44000, France

  • CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne

    Toulouse, 31059, France

  • CHU_Service de Médecine Interne Nutrition A2-Hôpital du Haut Levèque

    Bordeaux, 33000, France

  • Hôpital Femme-Mère-Enfant-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon

    Bron, 69677, France

  • Hôpital Necker Enfants Malades, APHP-Maladies Métaboliques -Service de Pédiatrie

    Paris, 75743, France

  • University Hospital of NANCY

    Vandœuvre-lès-Nancy, 54500, France