Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients

This is a monocentric study. The enrollment will be performed as routine care in the department of neurology - neuromuscular center of Raymond Poincaré hospital (APHP).

Patients with cystinosis will be consecutively invited to participate in the study until 20 patients are included. This will avoid selection bias if any. For eligible non included patients, a specific non-identifying registry will be set-up with a very restricted number of variables indicative of disease severity at baseline, allowing for a comparison of included and non-included patients.

Participating cystinosis patients will be proposed to attend a one-day hospitalization. Evaluations will be performed during stable state upon baseline and during a follow-up visit 12 months later.

The study expected duration is 30 months with 18 months for patients' inclusion and 12 month-follow-up.

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.