Expression Profile Study of Macrophages From Patients Affected by ALS or Other Related Motor Impairments

NCT04816227 | Recruiting

• 2 other identifiers: C20-552020-A03348-31
• Study Type: observational
• Target: 180
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Amyotrophic Lateral Sclerosis

Outcome Measures

Primary Outcomes (1)

• Measure of transcriptome differences between the ALS group and the 3 other groups of participants.

  Will be considered different modulation superior or equal to 1.5 fold with a statistical value of p\<0.05.

  5 years

Study Arms (4)

Amyotrophic Lateral Sclerosis (ALS)

Blood draw

asymptomatic carriers of ALS mutations

Blood draw

patients with motor impairment other than ALS

Blood draw

healthy controls

Blood draw

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Group 1: 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) Group 2: Be a carrier of a known mutation causing ALS and be asymptomatic Group 3: Have a motor impairment related to ALS 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. Group 4: Healthy control

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

Département de Neurologie, Hôpital de la Pitié-Salpêtrière

Paris, 75013, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• François SALACHAS, MD

  APHP, Hôpital de la Salpêtrière, INSERM U1127, ICM

  STUDY DIRECTOR

Central Study Contacts

François SALACHAS, MD

CONTACT

+331 42 16 24 72; nathalie.cormand@aphp.fr

Severine BOILLEE, PhD

CONTACT

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 19, 2021
• First Posted: March 25, 2021
• Study Start: September 29, 2021
• Primary Completion (Estimated): September 1, 2027
• Study Completion (Estimated): September 1, 2027
• Last Updated: March 9, 2026

Record last verified: 2026-03

Locations

FR (1)