Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients (Cystinose)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Cystinosis

Study type: Observational

Funder types: Other

Identifiers

NCT05545774

2022-A01649-34 (Registry Identifier)

APHP220694

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 20 patients

Sex: All

Ages: 16+ years old

Volunteers: No Healthy Volunteers

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.