Informations générales (source: ClinicalTrials.gov)
Characterization of Neuromuscular Involvement in Late Adolescent and Adult Cystinosis Patients (Cystinose)
Observational
Assistance Publique - Hôpitaux de Paris (Voir sur ClinicalTrials)
septembre 2022
mars 2025
08 mars 2025
The primary objective of the study is to evaluate the change in motor function of
patients with cystinosis.
The secondary objectives of the study:
- assessment of the respiratory function;
- assessment of the muscle function;
- assessment of swallowing disorders;
- assessment radiologically of the muscular efficiency;
- assessment of lean mass / fat mass ratio;
- assessment of sleeping disorders;
- annual assessment of evolution of above functions.
All patients will be examined by experienced neuromuscular specialist (Pr Pascal Laforêt)
and pulmonologist specialized in neuromuscular disorders (Pr Hélène Prigent). All
evaluations will be performed in Raymond-Poincaré hospital (Teaching hospital of
Assistance Publique - Hopitaux de Paris (APHP) and University of Paris-Saclay)
neuromuscular center, coordinated by Pr Pascal Laforêt.
Etablissements
| Les établissements d'Île-de-France ayant mis à jour leurs données Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP - Hôpital Raymond Poincaré | LAFORET Pascal | 18/04/2025 07:55:56 | Contacter | ||
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| AP-HP - Hôpital Necker-Enfants Malades | Aude Servais, MD, PhD | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Neurology Department, Raymond-Poincaré hospital, APHP - 92380 - Garches - France | Pascal Laforêt, MD, PhD | Contact (sur clinicalTrials) | |||
Critères
Tous
Inclusion Criteria:
- Patients aged ≥ 16 years;
- Genetically confirmed diagnosis of cystinosis;
- Presenting motor deficiency of at least one muscle;
- Covered by health insurance.
- Patients aged ≥ 16 years;
- Genetically confirmed diagnosis of cystinosis;
- Presenting motor deficiency of at least one muscle;
- Covered by health insurance.
- Patient refusal;
- Foreign patients under AME health schema;
- Patients under legal protection;
- Pregnancy or breast-feeding.