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| ID | Type | Description | Link |
|---|---|---|---|
| 2021-A02460-41 | Other Identifier | IDRCB |
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The aim of the study is to evaluate the interest of the determination of pNFH and NFL neurofilaments in serum for the diagnosis of ALS in patients with a diagnostic standoff after evaluation in an expert ALS center. The hypothesis is that one of these biomarkers, or their combined analysis, will make it possible to confirm or invalidate the diagnosis of ALS.
For this study, which aims to evaluate a test to help in the diagnosis of ALS that could be integrated into routine practice, it was preferred to use blood tests. Blood sampling is significantly less invasive than CSF sampling, and more easily generalized, including in ambulatory conditions.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with progressive motor neuron disease without definite diagnosis | Patients with progressive motor neuron disease without definite diagnosis |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Drawing a tube of blood (serum) | Other | dosage of neurofilaments and comparison with a final diagnosis one year after sampling. |
|
| Measure | Description | Time Frame |
|---|---|---|
| contribution of pNFH and NFL neurofilaments assays | contribution of pNFH and NFL neurofilaments assays in serum for the positive diagnosis of ALS in a selected population of patients with progressive motor neuron disease without definite diagnosis | 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| Value of the combined pNFH and NFL neurofilament assay in serum versus the pNFH and NFL assay alone | To evaluate the value of the combined pNFH and NFL neurofilament assay in serum versus the pNFH and NFL assay alone for the positive diagnosis of ALS in a selected population of patients with progressive motor neuron disease without a definite diagnosis. | 1 year |
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Inclusion criteria :
Subjects with first and/or second motor neuron disease, evolving clinically and/or electrically over at least 12 months, not meeting the diagnostic criteria for ALS (revised El Escorial criteria):
Non-inclusion criteria:
Refusal of the patient Person under a legal protection measure (guardianship, curatorship or safeguard of justice).
Person deprived of liberty by judicial or administrative decision.
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Patients with progressive motor neuron disease without a definite diagnosis.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Maria del Mar Amador | Contact | 1 42 16 24 72 | +33 | mariadelmar.amador@aphp.fr |
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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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serum
| D019636 | Neurodegenerative Diseases |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |