CompletedNot Applicable

Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients

France20 participantsStarted 2022-09-22

Plain-language 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.

Who can participate

Age range

16 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Patients aged ≥ 16 years; * Genetically confirmed diagnosis of cystinosis; * Presenting motor deficiency of at least one muscle; * Covered by health insurance. Exclusion Criteria: * Patient refusal; * Foreign patients under AME health schema; * Patients under legal protection; * Pregnancy or breast-feeding.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change in motor function

Timeframe: 12 months

Trial details

NCT IDNCT05545774

SponsorAssistance Publique - Hôpitaux de Paris

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-09-11

View on ClinicalTrials.gov More Cystinosis trials