Modeling Amyotrophic Lateral Sclerosis With Fibroblasts

Sponsor
Assistance Publique - Hôpitaux de Paris
Study ID
NCT06450691
Status
Recruiting
Apply to this trial

Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Accepted

Interventions

  • biopsy — PROCEDURE
    skin biopsy and blood sampling

Study Details

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.

Key Dates

First listed
Jun 10, 2024
Start date
Aug 28, 2025
Status verified
Apr 2026
Primary completion
Sep 30, 2034
Completion
Sep 30, 2034

Study Design

Enrollment
110 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER

Arms

  • Experimental: participants (SLA, healthy controls and asymptomatics)
    Patients fulfilling the El Escorial criteria definite ALS or asymptomatics or Healthy controls

Primary Outcome Measure

Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts [ Time Frame: 1 year ]

Central Contacts

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