Modeling of Amyotrophic Lateral Sclerosis Using Patient Fibroblasts to Study Different Form of the Disease.
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 110
- 试验地点
- 2
- 主要终点
- Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts
研究概览
简要总结
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. This longitudinal study involves three cohorts of participants: patients with sporadic or hereditary ALS, asymptomatic individuals carrying pathogenic mutations responsible for ALS, and control subjects. In this study, a skin biopsy and blood sampling will be performed at the initial visit (M0), then at M12 (+/- 2 months) for patients, and at M36 (+/- 12 months) for asymptomatic carriers of pathogenic mutations. The aim of this research is to model ALS pathology using fibroblasts derived from the patients' skin biopsies.
详细描述
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. This longitudinal study involves three cohorts of participants: patients with sporadic or hereditary ALS, asymptomatic individuals carrying pathogenic mutations responsible for ALS, and control subjects. In this study, a skin biopsy and blood sampling will be performed at the initial visit (M0), then at M12 (+/- 2 months) for patients, and at M36 (+/- 12 months) for asymptomatic carriers of pathogenic mutations. The aim of this research is to model ALS pathology using fibroblasts derived from the patients' skin biopsies.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •common to all 3 populations:
- •adults, both sexes
- •with written consent to participate in the study
- •affiliated to a social security scheme
- •ALS patients :
- •patients with ALS according to the revised El Escorial criteria :
- •with a hereditary form of ALS, defined by the presence of a family history of ALS or by the demonstration of a pathogenic mutation in the patient or
- •with a juvenile form of the disease, defined by onset of symptoms at less than 30 years of age or
- •with a sporadic form of ALS
- •Asymptomatic mutation carriers :
- •- Asymptomatic individuals who carry a mutation causing ALS but have not developed symptoms.
- •Healthy subjects:
- •control individuals, taking into account male/female and close age matching
排除标准
- •with a known skin disease (acne, atopic dermatitis, psoriasis, melanoma, skin carcinoma, rosacea, scabies; as referenced on http://dermato-info.fr/), which in the investigator's opinion constitutes a contraindication to skin biopsy
- •have a platelet count of less than 75,000/mm3 in a laboratory test less than 3 months old,
- •with a proven allergy to lidocaine or prilocaine,
- •Pregnant or breast-feeding women, or subjects under guardianship, curatorship or safeguard of justice.
- •Patient's condition which, in the opinion of the investigator, is incompatible with skin sampling or participation in the study.
- •Participation in a clinical trial (involving a drug) or other interventional research if this interferes with FIBRALS research.
研究组 & 干预措施
participants (SLA, healthy controls and asymptomatics)
Patients fulfilling the El Escorial criteria definite ALS or asymptomatics or Healthy controls
干预措施: biopsy (Procedure)
结局指标
主要结局
Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts
时间窗: 1 year
Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts subjected to various cellular stresses by immunofluorescence analysis.
次要结局
未报告次要终点