RecruitingNot ApplicableNCT06450691

Modeling Amyotrophic Lateral Sclerosis With Fibroblasts

Modeling of Amyotrophic Lateral Sclerosis Using Patient Fibroblasts to Study Different Form of the Disease.

Sponsor

Assistance Publique - Hôpitaux de Paris

Enrollment

110 participants

Start Date

Aug 28, 2025

Study Type

INTERVENTIONAL

Conditions

Amyotrophic Lateral Sclerosis

Summary

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.

Eligibility

Min Age: 18 Years

Inclusion Criteria12

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 Criteria6

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.