Scientists probe cellular power plants in rare disease

NCT ID NCT07319091

Summary

This study aims to understand why people with cystinosis, a rare genetic disease, experience premature aging and bone problems. Researchers will compare the energy production in blood cells from 25 patients with cystinosis to see if their cellular 'power plants' (mitochondria) work differently. The goal is to gather basic knowledge about the disease process to identify potential future treatment targets.

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Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Service de Néphologie et endocrinologie pédiatrique, Hôpital Arnaud de Villeneuve

    Montpellier, 34295, France

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  • Service de Néphrologie pédiatrique, Hôpital Jeanne de Flandre

    Lille, 59000, France

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  • Service de Néphrologie pédiatrique, Hôpital Necker-Enfants Malades

    Paris, 75015, France

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  • Service de Néphrologie pédiatrique, Hôpital Robert Debré

    Paris, 75019, France

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  • Service de Néphrologie pédiatrique, Hôpital de la Timone

    Marseille, 13385, France

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  • Service de Néphrologie-Dialyse-Transplantation pédiatrique, Hôpital d'enfants Brabois

    Vandœuvre-lès-Nancy, 54511, France

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  • Service de Néphrologie-transplantation rénale adultes, Hôpital Necker-Enfants Malades

    Paris, 75015, France

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  • Service de néphrologie et exploration fonctionnelle rénale, Hôpital Edouard Herriot, Hospices Civils de Lyon

    Lyon, 69003, France

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  • Service de néphrologie pédiatrique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon

    Bron, 69677 Bron Cedex, France

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    Contact Phone: •••-•••-•••• Email: •••••@•••••

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Conditions

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