Characterization of Neuromuscular Involvement in Late Adolescent and Adult Cystinosis Patients
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 20
- 试验地点
- 2
- 主要终点
- Change in motor function
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients aged ≥ 16 years;
- •Genetically confirmed diagnosis of cystinosis;
- •Presenting motor deficiency of at least one muscle;
- •Covered by health insurance.
排除标准
- •Patient refusal;
- •Foreign patients under AME health schema;
- •Patients under legal protection;
- •Pregnancy or breast-feeding.
结局指标
主要结局
Change in motor function
时间窗: 12 months
By the Motor Function Measure (MFM) quantitative scale to measure the functional capacities of motors (0-100%, higher scores mean better capacities).
次要结局
- Change in Perdue pegboard test(12 months)
- Change in the time to stand test(12 months)
- Change in the Nine hole peg test(12 months)
- Change in pinch strength(12 months)
- Change in inspiratory muscles function(12 months)
- Change in ratio of fat mass/lean mass(12 months)
- Change in swallowing function - Salassa and McHorney scores(12 months)
- Change in vital capacity(12 months)
- Change in swallowing function - time of swallowing(12 months)
- Change in the the Box and block test(12 months)
- Change in expiratory muscles function(12 months)
- Change in motor strength(12 months)
- Change in walking capacity(12 months)
- Change in Kapanji test(12 months)
- Change in grip strength(12 months)
- Change in diaphragmatic performance(12 months)
- Change in swallowing function - Sidney Swallow questionnaire(12 months)
- Incidence of breathing disorders during sleep(12 months)