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Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients

NCT05545774 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2025-11-24

No results posted yet for this study

Summary

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.

Conditions

  • Cystinosis

Sponsors & Collaborators

  • Cystinosis Research Foundation

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Pascal Laforêt, MD, PhD · Neurology Department, Raymond Poincaré Hospital, APHP

  • Hélène Prigent, MD, PhD · Physiology department, Raymond Poincaré Hospital, APHP

  • Aude Servais, MD, PhD · Department of Nephrology and Transplantation, Necker-Enfants Malades University Hospital, APHP

Eligibility

Min Age
16 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-09-22
Primary Completion
2025-09-11
Completion
2025-09-11

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05545774 on ClinicalTrials.gov