Actively Recruiting
Modeling Amyotrophic Lateral Sclerosis With Fibroblasts
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2026-04-13
110
Participants Needed
1
Research Sites
470 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Modeling Amyotrophic Lateral Sclerosis With Fibroblasts
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adults of any gender
- Ability to provide written consent to participate
- Affiliated with a social security scheme
- For ALS patients: diagnosis according to revised El Escorial criteria
- For ALS patients: either hereditary ALS with family history or pathogenic mutation, juvenile ALS with symptom onset before 30 years, or sporadic ALS
- For asymptomatic mutation carriers: carry an ALS-causing mutation but no symptoms
- For healthy controls: individuals matched by age and gender
You will not qualify if you...
- Known skin diseases such as acne, atopic dermatitis, psoriasis, melanoma, skin carcinoma, rosacea, or scabies that contraindicate skin biopsy
- Platelet count less than 75,000/mm3 in a recent lab test (within 3 months)
- Allergy to lidocaine or prilocaine
- Pregnant or breastfeeding women
- Individuals under guardianship, curatorship, or legal protection
- Any condition deemed incompatible with skin biopsy or study participation by the investigator
- Participation in other clinical trials involving drugs if interfering with this study
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
CIC Neurosciences
Paris, France, 75013
Actively Recruiting
Research Team
M
Maria del Mar Amador, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
OTHER
Number of Arms
1
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