Modeling Amyotrophic Lateral Sclerosis With Fibroblasts

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.

Inclusion criteria

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

Exclusion criteria

• 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.