COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 350
- 试验地点
- 2
- 主要终点
- Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
研究概览
简要总结
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve patient care and assess the effect of actual therapies on quality of life.
The purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth natural clinical and biological history of the disease on the long term for a given patient, establish the impact on the quality of life of various clinical manifestations
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Supportive Care
- 盲法
- None
入排标准
- 年龄范围
- 4 Months 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients of both sex
- •Age minimum*
- •patients with social protection
- •Written informed consent form signed prior initiating any trial related procedure:
- •by > 18-year old patients
- •by both parents for minor patients > 4 months or legal representative for protected adults, and by minor and protected adults patients if able to understand and/or give their assent.
- •For foreign patients, a third party will translate, if required, the information prior to the consent.
- •a diagnosis of BBS or ALMS based on molecular assessment or clinical evaluation/or patient with mutation and none of the diagnosis criteria
- •and/or an identified mutation in BBS genes or ALMS1 gene
- •The inclusion of children is essential to a cohort study that is attempting an early identification of visual, metabolic and renal abnormalities. Many of the age-dependent manifestations of BBS develop during childhood and the average age of diagnosis is 9.2 years
排除标准
- •Serious active intercurrent pathology that may impact the collected data
- •Patient under judicial protection
- •Participation in another interventional clinical trial which includes an exclusion period
- •Non protected adult with difficulty of comprehension, or inability to understand the delivered information (emergency situation ...).
结局指标
主要结局
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
时间窗: 5 years
renal function, eyes, endocrine, Clinical Examination
次要结局
未报告次要终点