Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients
- Conditions
- Cystinosis
- Registration Number
- NCT05545774
- Lead Sponsor
- Assistance Publique - Hôpitaux de Paris
- Brief 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.
- Detailed 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 20
- Patients aged ≥ 16 years;
- Genetically confirmed diagnosis of cystinosis;
- Presenting motor deficiency of at least one muscle;
- Covered by health insurance.
- Patient refusal;
- Foreign patients under AME health schema;
- Patients under legal protection;
- Pregnancy or breast-feeding.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Change in motor function 12 months By the Motor Function Measure (MFM) quantitative scale to measure the functional capacities of motors (0-100%, higher scores mean better capacities).
- Secondary Outcome Measures
Name Time Method Change in vital capacity 12 months By spirometry. Higher value mean better outcome.
Change in swallowing function - time of swallowing 12 months By the time of swallowing 80 ml of water (normal = 3-4 sec). Higher values mean worse outcome.
Change in motor strength 12 months By Manual Muscle Testing (MMT). Higher scores mean better outcome.
Change in walking capacity 12 months by the 6-minutes walking test. Higher scores mean better outcome.
Change in Kapanji test 12 months by Kapanji test. Higher scores mean better outcome.
Change in grip strength 12 months by myogrip test. Higher value mean better outcome.
Change in diaphragmatic performance 12 months By transdiaphragmatic pressures measurements. Higher value mean better outcome.
Change in swallowing function - Sidney Swallow questionnaire 12 months By the Sidney Swallow questionnaire. Higher scores mean better outcome.
Change in Perdue pegboard test 12 months by Perdue pegboard test. Higher scores mean better outcome.
Change in the time to stand test 12 months by the time to stand test. Higher scores mean better outcome.
Change in the Nine hole peg test 12 months by the Nine hole peg test. Higher scores mean better outcome.
Change in pinch strength 12 months by myopinch test. Higher value mean better outcome.
Change in inspiratory muscles function 12 months By inspiratory maximal pressure. Higher value mean better outcome.
Change in the the Box and block test 12 months by the Box and block test. Higher scores mean better outcome.
Change in expiratory muscles function 12 months By expiratory maximal pressure. Higher value mean better outcome.
Change in ratio of fat mass/lean mass 12 months By osteodensitometry
Change in swallowing function - Salassa and McHorney scores 12 months By the Salassa and McHorney scores. Higher scores mean better outcome.
Incidence of breathing disorders during sleep 12 months Detection by a polysomnography associated to capnography.
Trial Locations
- Locations (2)
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
Neurology Department, Raymond-Poincaré hospital, APHP
🇫🇷Garches, France