Detail Article

Informations générales (source: ClinicalTrials.gov)

Numéro NCT

NCT04816227 En recrutement IDF

Titre

Expression Profile Study of Macrophages From Patients Affected by Amyotrophic Lateral Sclerosis (ALS) or Other Related Motor Impairments

Type

Observational

Pathologie

Sclérose latérale amyotrophique
Sclérose
Maladies du motoneurone

Phase

Promoteur

Institut National de la Santé Et de la Recherche Médicale, France (Voir sur ClinicalTrials)

Date de début

septembre 2021

Date de fin

septembre 2027

Dernière mise à jour

18 juillet 2026

Résumé

The aim of this project is to analyze the macrophage transcriptome and protein markers of Amyotrophic Lateral Sclerosis (ALS) patients compared to controls (non-affected individuals, patients with other motor impairments) and asymptomatic ALS gene carriers, to find new pathways for therapeutic targets and disease biomarkers.

Détail

Voir le détail Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults affecting upper and lower motor neurons resulting in progressive muscle atrophy and paralysis of the patients within 2 to 5 years. The majority of ALS cases are sporadic (SALS), 5 to 10% are familial forms (FALS). In France, the most frequent mutation is an intronic hexanucleotide expansion in the C9orf72 gene, representing 46% of FALS followed by mutations in the first discovered ALS gene, SOD1 accounting for around 10% of FALS. Using mutant SOD1 ALS mouse models, the investigators and others have shown that motor neurons degenerated through a non-cell autonomous mechanism involving microglial cells. Microglial cells are the macrophages of the central nervous system (CNS) capable of producing neurotrophic or neurotoxic factors. Microglial cells are part of the myeloid lineage like macrophages at the periphery, however these two cell types have different developmental origins and are in different environments. Spinal motor neurons are particular neurons since their cell body is in the CNS, and therefore surrounded by microglial cells, while their axon extends at the periphery and is therefore in contact with peripheral macrophages. The investigators have shown that (i) peripheral macrophages in affected peripheral nerves of ALS mouse models and ALS patient post-mortem tissues were activated, (ii) in ALS mouse models, both microglial cells but also peripheral macrophages participated in disease progression and (iii) peripheral macrophages were able to influence microglial cell reactivity. The working hypothesis is that peripheral macrophages are themselves (and not just microglial cells) involved in ALS and with this project the investigators want to compare macrophages from ALS patients and controls using macrophages derived from blood monocytes. The aim is to analyze the macrophage transcriptome and protein markers of Amyotrophic Lateral Sclerosis (ALS) patients compared to controls (non-affected individuals, patients with other motor impairments) and asymptomatic ALS gene carriers, to find new pathways to target and disease biomarkers. Fermer le détail

Etablissements

Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données
PITIE SALPETRIERE-GARDIENS DE LA PAIX	François Salachas, MD	En recrutement IDF		Contact (sur clinicalTrials)

Critères

Genre

Tous

Nombre d'inclusion

Critère d'inclusion

- Agree to participate in this research and have signed an informed consent

- Be able to understand the objectives and procedures of the study

- Be affiliated to French social security or equivalent

- Meet one of the criteria below:

(i) Be affected by Amyotrophic Lateral Sclerosis (ALS) definite, probable or
possible (El Escorial criteria) sporadic SALS (no known history in the family) or
familial FALS (at least one other member of the family affected), (ii) not being
affected by ALS but having a close relative who has or has been diagnosed with ALS
and has or is a carrier of a known mutation causing ALS and has consented to a
genetic analysis, (iii) Have a motor impairment including the following pathologies:
Motor neuropathy, myopathy, Myositis, Spastic paraplegia, Cram / fasciculation
syndrome, Chronic inflammatory polyradiculitis, somatization disorder, Anterior
spinal artery syndrome, encephalitis, myelitis, Peroneal neuropathy, cervical
myelopathy with radiculopathy, spinocerebellar ataxia, Kennedy disease, Spinal
atrophy, Hereditary distal motor neuropathy.

(iv) be accompanying a person with ALS or other motor impairment that is followed by one
of the doctors from the ALS referral center at the Pitié-Salpêtrière hospital or by a
neurologist from the neurophysiology department at the Pitié-Salpêtrière hospital.

Exclusion Criteria:

Critère de non inclusion

- Be subjected to a legal protection measure (safeguard of justice, curatorship or
guardianship)

- Refusing to participate in the study

- Whose condition, in the opinion of the doctor, is incompatible with blood draw or
participation in research

- Being pregnant or breastfeeding

NCT04816227 - Expression Profile Study of Macrophages From Patients Affected by Amyotrophic Lateral Sclerosis (ALS) or Other Related Motor Impairments

Informations générales
Etablissements
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