Using skin cells to model ALS

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

This project will test whether skin cells taken by biopsy from people with ALS, people who carry ALS gene mutations but have no symptoms, and healthy volunteers can be used to model ALS in the lab.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 110 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Assistance Publique - Hôpitaux de Paris (Academic / other)
• Locations: 1 site (Paris)
• Trial ID: NCT06450691 on ClinicalTrials.gov

What this trial studies

This longitudinal study collects skin biopsies and blood from three groups: people with sporadic or hereditary ALS, asymptomatic carriers of pathogenic ALS mutations, and matched healthy controls. Samples are taken at the initial visit and again at 12 months for patients and 36 months for asymptomatic carriers to capture disease-related changes over time. Fibroblasts will be derived from the skin biopsies and used to model ALS-related cellular pathology in vitro. The approach aims to generate patient-derived cellular models to study mechanisms linked to genetic and sporadic forms of ALS.

Who should consider this trial

Good fit: Adults with sporadic or hereditary ALS, asymptomatic carriers of pathogenic ALS mutations, and age- and sex-matched healthy volunteers who can consent to skin biopsy and blood sampling are eligible.

Not a fit: People with active skin diseases that contraindicate biopsy, those unable or unwilling to undergo biopsy, or those who cannot attend follow-up visits are unlikely to benefit from participation.

Why it matters

Potential benefit: If successful, this work could improve understanding of ALS mechanisms and provide patient-derived cell models that speed development of future therapies.

How similar studies have performed: Similar approaches using patient fibroblasts and induced pluripotent stem cell models have been used successfully to study ALS biology, though direct translation to new therapies remains limited.

Eligibility criteria

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.

Where this trial is running

Paris

• CIC Neurosciences — Paris, France (Recruiting)

Study contacts

• Study coordinator: Maria del Mar Amador, MD

Conditions Amyotrophic Lateral Sclerosis; amyotrophic lateral sclerosis; genetic; fibroblasts