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.
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.
Study Type
OBSERVATIONAL
Enrollment
20
Neurology Department, Raymond-Poincaré hospital, APHP
Garches, France
Department of Nephrology and Transplantation Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker-Enfants Malades University Hospital, APHP
Paris, France
Change in motor function
By the Motor Function Measure (MFM) quantitative scale to measure the functional capacities of motors (0-100%, higher scores mean better capacities).
Time frame: 12 months
Change in motor strength
By Manual Muscle Testing (MMT). Higher scores mean better outcome.
Time frame: 12 months
Change in walking capacity
by the 6-minutes walking test. Higher scores mean better outcome.
Time frame: 12 months
Change in the time to stand test
by the time to stand test. Higher scores mean better outcome.
Time frame: 12 months
Change in the the Box and block test
by the Box and block test. Higher scores mean better outcome.
Time frame: 12 months
Change in the Nine hole peg test
by the Nine hole peg test. Higher scores mean better outcome.
Time frame: 12 months
Change in Perdue pegboard test
by Perdue pegboard test. Higher scores mean better outcome.
Time frame: 12 months
Change in Kapanji test
by Kapanji test. Higher scores mean better outcome.
Time frame: 12 months
Change in pinch strength
by myopinch test. Higher value mean better outcome.
Time frame: 12 months
Change in grip strength
by myogrip test. Higher value mean better outcome.
Time frame: 12 months
Change in vital capacity
By spirometry. Higher value mean better outcome.
Time frame: 12 months
Change in inspiratory muscles function
By inspiratory maximal pressure. Higher value mean better outcome.
Time frame: 12 months
Change in expiratory muscles function
By expiratory maximal pressure. Higher value mean better outcome.
Time frame: 12 months
Change in diaphragmatic performance
By transdiaphragmatic pressures measurements. Higher value mean better outcome.
Time frame: 12 months
Incidence of breathing disorders during sleep
Detection by a polysomnography associated to capnography.
Time frame: 12 months
Change in ratio of fat mass/lean mass
By osteodensitometry
Time frame: 12 months
Change in swallowing function - Sidney Swallow questionnaire
By the Sidney Swallow questionnaire. Higher scores mean better outcome.
Time frame: 12 months
Change in swallowing function - Salassa and McHorney scores
By the Salassa and McHorney scores. Higher scores mean better outcome.
Time frame: 12 months
Change in swallowing function - time of swallowing
By the time of swallowing 80 ml of water (normal = 3-4 sec). Higher values mean worse outcome.
Time frame: 12 months
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