Modeling Amyotrophic Lateral Sclerosis With Fibroblasts

Not Applicable

Not yet recruiting

• Conditions: Amyotrophic Lateral Sclerosis
• Interventions: Procedure: biopsy

• Registration Number: NCT06450691
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief 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.

Detailed Description

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.

Study Timeline

• Status Verified: 2024-06
• Study First Submitted: 2024-06-05
• Study First Submitted QC: 2024-06-05
• Study First Posted: 2024-06-10
• Last Update Submitted: 2024-07-01
• Last Update Posted: 2024-07-03
• Study Start: 2024-09
• Primary Completion: 2033-09
• Study Completion: 2033-09

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 110

Inclusion Criteria

Not provided

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
participants (SLA, healthy controls and asymptomatics)	biopsy	Patients fulfilling the El Escorial criteria definite ALS or asymptomatics or Healthy controls

Primary Outcome Measures

Name	Time	Method
Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts	1 year	Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts subjected to various cellular stresses by immunofluorescence analysis.

Trial Locations

Locations (1)

CIC Neurosciences; 🇫🇷 Paris, France