Using skin cells to model ALS
Official title: Modeling of Amyotrophic Lateral Sclerosis Using Patient Fibroblasts to Study Different Form of the Disease.
Run by Assistance Publique - Hôpitaux de Paris · NCT06450691 · Data updated 2026-11-12
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
| Study type | Interventional |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 110 (estimated) |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris) |
| Status | Recruiting |
| Started | August 28, 2025 |
| Main results expected | September 2034 |
| Study ends | September 2034 |
| Registry record updated | April 13, 2026 |
| Trial ID | NCT06450691 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
Show full inclusion / exclusion 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 it's running
-
CIC Neurosciences
Paris, France Recruiting
Study contacts
- Study coordinator: Maria del Mar Amador, MD
- Email: mariadelmar.amador@aphp.fr
- Phone: 33142162472
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Implanted Brain-Computer Interface to Help People with Severe Arm Impairment
We’re testing the N1 System, a fully implanted brain interface in the motor cortex with a robot, to see if it can help adults with spinal cord injury, ALS, or chronic stroke use a computer or keyboard more easily.
-
Brain-computer interface chat tool for people with ALS
This test compares a wearable brain-computer interface communication device to eye-tracking devices that people with ALS currently use to help them communicate.
-
BIIB147 safety and how it behaves in adults with ALS
This study tests BIIB147 in adults with ALS to see if it is safe and how the body handles it, including early and long-term effects.
-
Aims to restore UNC13A function in people with ALS
This trial tests TRCN-1023 in adults with ALS to see if it’s safe, tolerated, and shows early signs of benefit.
-
LTX-002 in adults with ALS
A study will test whether the experimental drug LTX-002 is safe and tolerable in adults with ALS and see how the body handles the drug and how it affects ALS indicators.
-
Repeated ultrasound-assisted blood-brain barrier opening in ALS
This trial tests whether repeatedly opening the blood-brain barrier with ultrasound is safe and may help people with ALS.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.