Clinical trial NCT06450691: Modeling Amyotrophic Lateral Sclerosis With Fibroblasts
Official title: Modeling of Amyotrophic Lateral Sclerosis Using Patient Fibroblasts to Study Different Form of the Disease.
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: NA
Conditions: Amyotrophic Lateral Sclerosis
Keywords: amyotrophic lateral sclerosis
genetic
fibroblasts
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2024-06-10
Enrollment: 110
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

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.

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.

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.

Primary outcomes:
measure: Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Paris
country: France
facility: CIC Neurosciences
Study officials:
References: