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69HCL18_0685

Cystea-bone clinical study
Source : Importé depuis le centre

Référence clinicaltrials.gov: NCT03919981
Recrutement partiellement ouvert
Dernière modification : 2025/03/02
Type de recherche

Observationnel


Population cible

Condition médicale (spécialité visée)

Donnée non disponible

Profil des participants

Sexe(s) des participants

ALL

Source : Importé depuis le centre

Critères de sélection

Critères d'inclusion

Inclusion Criteria:

* Male and female subjects with confirmed diagnosis of nephropathic cystinosis (defined by clinical signs, White Blood Cells (WBC) cystine level and/or mutation), currently receiving oral cysteamine.
* Age \> 2 years.
* Subjects and/or their parents/ legal guardian must provide non opposition prior to participation in the study.

Exclusion Criteria:

* Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.

Source : Importé depuis le centre

Thérapie ou Intervention proposée

Cohortes
Nom Condition médicale Traitement État du recrutement
nephropathic cystinosis patients receiving cysteamine nephropathic cystinosis patients receiving cysteamine. The blood samples of the group will be used to evaluate the action of cysteamine on osteoclastic differentiation and resorption activity of NC patients, depending on the underlying genotype. Donnée non disponible
  • Inconnu
  • nephropathic cystinosis patients receiving cysteamine
    État du recrutement
    unknown
    Données à jour depuis : 2 mars 2025

    Description de l'étude

    Résumé de l'étude

    Nephropathic Cystinosis (NC) is an orphan inherited autosomal recessive disease characterised as a generalized lysosomal storage disease due to a deficiency of the cystine lysosomal transport protein, cystinosin.

    Patients with NC usually receive cysteamine. Bone impairment was recently recognized as a late complication of NC, occurring at adolescence or early adulthood. Even though the exact underlying pathophysiology is unclear, at least six hypotheses are discussed, and mainly cysteamine toxicity and/or direct bone effect of the Cystinosin (CTNS) mutation. Because of the potential dramatic impact on quality of life of this novel complication, research should aim to better understand bone disease in NC.

    The primary objective of this study is to evaluate the action of cysteamine on osteoclastic differentiation and resorption activity of NC patients, depending on the underlying genotype. The Secondary objective is to describe the clinical bone status of NC patients depending on their underlying genotype.

    Source : Importé depuis le centre

    Sites

    Centres participants


    Dernière modification : 2 mars 2025
    Données à jour depuis : 4 mars
    Origine des données : clinicaltrials.gov
    Référence clinicaltrials.gov: NCT03919981