Recruiting NCT06450691

Modeling Amyotrophic Lateral Sclerosis With Fibroblasts

No phase Interventional Amyotrophic Lateral Sclerosis

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied: The protocol lists: biopsy.
Who it may be relevant to: Registry conditions: Amyotrophic Lateral Sclerosis. Basic parameters: from 18 years · All.
What needs checking: Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place: France
Next step: Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Official title

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

Overview

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

Interventions

Procedure biopsy
skin biopsy and blood sampling

Primary outcome measures

Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts [Time frame: 1 year]

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Allocation: N/A
Model: Single group
Masking: Open label
Primary purpose: Other

Study locations

France · 1 center

CIC Neurosciences — Paris

Identifiers

NCT: NCT06450691 · APHP231795

Primary sources (government registries)

ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗