Studying Amyotrophic Lateral Sclerosis Using Patients' Skin Cells
Uses skin biopsy cells from people with ALS to model the disease.
Key facts
- Who runs it
- Assistance Publique - Hôpitaux de Paris
- Where
- Paris, FranceSee the site
- Trial code
- Registry title
- Modeling Amyotrophic Lateral Sclerosis With Fibroblasts
- Status
- Recruiting
- People taking part
- 110 people, planned
- Started
- 28 Aug 2025
- Expected to end
- Sept 2034
- Type of study
- Interventional
- Treatments tested
- biopsy
- Record updated
- 13 April 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for adults with ALS (hereditary, juvenile or sporadic), adults who carry an ALS-causing mutation but have no symptoms, and healthy adult controls. A skin biopsy and blood sample are taken.
- Age
- Adults, 18 years or older
- Sex
- Both sexes
- Disease stage
- ALS patients must meet the revised El Escorial criteria. Hereditary, juvenile (symptom onset before age 30) and sporadic forms can join. Mutation carriers must have no symptoms.
- Biomarker or test result
- Asymptomatic carriers must have a mutation that causes ALS. For hereditary ALS, a family history of ALS or a proven pathogenic mutation.
Main reasons for not taking part
- Known skin disease that makes a skin biopsy unsafe, in the investigator's opinion
- Platelet count under 75,000/mm3 in a test less than 3 months old
- Proven allergy to lidocaine or prilocaine
- Pregnant or breast-feeding women
- Taking part in another drug trial or interventional study that interferes with this research
The registry criteria, word for word
Show all 15 criteriaShow less
Who can take part
- 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
Who cannot take part
- Participation in a clinical trial (involving a drug) or other interventional research if this interferes with FIBRALS research
- 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
- with a proven allergy to lidocaine or prilocaine,
- Patient's condition which, in the opinion of the investigator, is incompatible with skin sampling or participation in the study
- have a platelet count of less than 75,000/mm3 in a laboratory test less than 3 months old,
- Pregnant or breast-feeding women, or subjects under guardianship, curatorship or safeguard of justice
Where in France
- CIC NeurosciencesParis, FranceContact: Maria del Mar Amador, MDTaking people
About the trial
What the trial wants to find out
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.
The group in the trial
- participants (SLA, healthy controls and asymptomatics)Treatment being tested
Patients fulfilling the El Escorial criteria definite ALS or asymptomatics or Healthy controls
Treatment: biopsy
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Modeling of Amyotrophic Lateral Sclerosis Using Patient Fibroblasts to Study Different Form of the Disease.
- Plain-language title
- Studying Amyotrophic Lateral Sclerosis Using Patients' Skin CellsGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Record updated
- 13 April 2026