Progressive Motor Neuron Disease Without Definite Diagnosis
Conditions
Keywords
ALS, Neurofilaments, NFL, pNFH, Amyotrophic Lateral Sclerosis, progressive motor neuron disease
Brief summary
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.
Detailed description
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.
Interventions
dosage of neurofilaments and comparison with a final diagnosis one year after sampling.
Sponsors
Study design
Eligibility
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): * Isolated peripheral motor neuron disease (at least one region of the PNM) OR * Isolated central motor neuron involvement (at least two areas of the MNC) OR * associated involvement of the MNP and MNC but in the presence of an associated pathology responsible for a persistent diagnostic doubt (double narrow cervical and lumbar canal, associated evolving cancer evoking a paraneoplastic syndrome without specific antibody found) Age superior to 18 years Management and follow-up in one of the French ALS centers Patient able to express his non-opposition Affiliation with social security or beneficiary of such a plan 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| contribution of pNFH and NFL neurofilaments assays | 1 year | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Value of the combined pNFH and NFL neurofilament assay in serum versus the pNFH and NFL assay alone | 1 year | 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. |