Although several molecules have been proposed as biomarker candidates, a clinically established signature for an early or even premotor diagnosis of ALS is not available. Due to the already advanced, disease stage at the time of diagnosis as well as rapid disease progression, an early diagnosis is mandatory for efficacious disease-modifying therapies.
In this project, the investigators will develop a clinical molecular fingerprint of PGMC that will provide insight into the molecular pathogenesis of ALS and allow earlier diagnosis.
18-90 years of age
Provision of a written informed consent
Affiliation with a social security scheme or beneficiary of such a scheme
Diagnosed by a clinically certified laboratory with a disease- causing mutation in a known ALS gene by predictive genetic testing
Inability to express consent to the study
Persons subject to a judicial safeguard measure, under guardianship or curatorship.
Linguistic incapacity or psychic refusal to read the information.
Pregnant women
Single group
lumbar puncture
Procedure/SurgeryAfter information and consent by the investigator, clinical data will be collected using a CRF and biological samples (Blood sampling, Urine sample, cephalo spinal fluid), lacrimal fluid sampling, and a smell test will be taken from all subjects at baseline and at 12 months.
Differential proteome from plasma, tear fluid, Cerebrospinal fluid
Proteome (DIA-MS) from plasma, tear fluid and cerebrospinal fluid in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics
Differential metabolome from plasma, urine , Cerebrospinal fluid
Metabolome (LC-MS/MS) from plasma, Urine and cerebrospinal fluid in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics
Nf-L, tau/phospho-tau, GFAP (SIMOA) from plasma and CSF
Nf-L (Neurofilament light protein), tau/phospho-tau, GFAP from plasma and CSF in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics. By SIMOA technology
Soluble p75ECD (ELISA) from urine
Soluble p75ECD (ELISA) from urine in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics.
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Institut National de la Santé Et de la Recherche Médicale, France
Lead sponsor
Technical University of Munich
Collaborator
