Modeling Amyotrophic Lateral Sclerosis With Fibroblasts

NCT06450691 | Recruiting

• 1 other identifier: APHP231795
• Study Type: interventional
• Target: 110
• Locations: 1 country
• Sites: 1

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.

Conditions

Amyotrophic Lateral Sclerosis

Keywords

amyotrophic lateral sclerosis; genetic; fibroblasts

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

participants (SLA, healthy controls and asymptomatics)

EXPERIMENTAL

Patients fulfilling the El Escorial criteria definite ALS or asymptomatics or Healthy controls

Procedure: biopsy

Interventions

biopsy PROCEDURE

skin biopsy and blood sampling

participants (SLA, healthy controls and asymptomatics)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

CIC Neurosciences

Paris, 75013, France

RECRUITING

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Interventions

Biopsy

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Cytodiagnosis; Cytological Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Specimen Handling; Diagnostic Techniques, Surgical; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Maria del Mar Amador, MD

CONTACT

33142162472; mariadelmar.amador@aphp.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 5, 2024
• First Posted: June 10, 2024
• Study Start: August 28, 2025
• Primary Completion (Estimated): September 1, 2034
• Study Completion (Estimated): September 1, 2034
• Last Updated: April 13, 2026

Record last verified: 2026-04

Locations

FR (1)