Modeling Amyotrophic Lateral Sclerosis With Fibroblasts (FIBRALS)

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

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 Overview

• Status: Recruiting
• Conditions: Amyotrophic Lateral Sclerosis
• Intervention / Treatment: Procedure: biopsy

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 Type: Interventional
• Enrollment (Estimated): 110
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Maria del Mar Amador, MD; Phone Number: 33 33142162472; Email: mariadelmar.amador@aphp.fr

Study Locations

• France
  • Paris, France, 75013
    • Recruiting
    • CIC Neurosciences
    • Contact: Maria del Mar Amador, MD; Phone Number: 33142162472; Email: mariadelmar.amador@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: participants (SLA, healthy controls and asymptomatics); Patients fulfilling the El Escorial criteria definite ALS or asymptomatics or Healthy controls	Procedure: biopsy; skin biopsy and blood sampling

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Actual): August 28, 2025
• Primary Completion (Estimated): September 1, 2034
• Study Completion (Estimated): September 1, 2034

Study Registration Dates

• First Submitted: June 5, 2024
• First Submitted That Met QC Criteria: June 5, 2024
• First Posted (Actual): June 10, 2024

Study Record Updates

• Last Update Posted (Actual): April 13, 2026
• Last Update Submitted That Met QC Criteria: April 8, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: genetic; amyotrophic lateral sclerosis; fibroblasts
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Metabolic Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Motor Neuron Disease; Nutritional and Metabolic Diseases; Amyotrophic Lateral Sclerosis; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Surgical Procedures, Operative; Cytological Techniques; Cytodiagnosis; Diagnostic Techniques, Surgical; Biopsy
• Other Study ID Numbers: APHP231795

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No