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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| participants (SLA, healthy controls and asymptomatics) | Experimental | Patients fulfilling the El Escorial criteria definite ALS or asymptomatics or Healthy controls |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| biopsy | Procedure | skin biopsy and blood sampling |
|
| Measure | Description | Time Frame |
|---|---|---|
| Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts | Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts subjected to various cellular stresses by immunofluorescence analysis. | 1 year |
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Inclusion criteria common to all 3 populations:
ALS patients :
Asymptomatic mutation carriers :
- Asymptomatic individuals who carry a mutation causing ALS but have not developed symptoms.
Healthy subjects:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Maria del Mar Amador, MD | Contact | 33142162472 | 33 | mariadelmar.amador@aphp.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CIC Neurosciences | Recruiting | Paris | 75013 | France |
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| ID | Term |
|---|---|
| D000690 | Amyotrophic Lateral Sclerosis |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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| ID | Term |
|---|---|
| D001706 | Biopsy |
| ID | Term |
|---|---|
| D003581 | Cytodiagnosis |
| D003584 | Cytological Techniques |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
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| D019636 | Neurodegenerative Diseases |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D003933 | Diagnosis |
| D013048 | Specimen Handling |
| D003949 | Diagnostic Techniques, Surgical |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |