Identification of Early Markers for ALS

NCT07213440 | Recruiting DMC

• 2 other identifiers: C23-41IDRCB
• Study Type: interventional
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Amyotrophic Lateral Sclerosis (ALS)

Outcome Measures

Primary Outcomes (9)

• 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

  Baseline, 1 year

• 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

  Baseline, 1 year

• 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

  Baseline, 1 year

• Soluble p75ECD (ELISA) from urine

  Soluble p75ECD (ELISA) from urine in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics.

  Baseline, 1 year

• B-SIT score (0-12 pts.)

  Brief Smell Identification Test B-SIT score (0-12 pts.) in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics.

  Baseline, 1 year

• Questionnaire

  Complete a Questionnaire with health data In Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics.

  Baseline, 1 year

• ECAS-score

  Cognitive assesment Edinburgh Cognitive and Behavioural ALS Screen-score In Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics.

  Baseline, 1 year

• Standardized neurological examination by ALSFRS-R (Revised Amyotrophic Lateral Sclerosis Functional Rating Scale)

  ALSFRS is an instrument for evaluating the functional status of patients with Amyotrophic Lateral Sclerosis.Neurological. Assessment in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics. Minimum score 0, maximum score 40

  Baseline, 1 year

• Standardized neurological examination by Manual Muscle Testing (MMT)

  Manual Muscle Testing provides helpful information about muscle quality. Grade 0 : no concentration palpable to Grade 5 : normal strength. Assessment in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics.

  Baseline, 1 year

Study Arms (1)

a single arm

OTHER

all 3 patient groups will have the same tests

Procedure: lumbar puncture

Interventions

lumbar puncture PROCEDURE

After 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.

Also known as: Blood sampling,Urine sample,survey,Lacrimal fluid sampling,Smell test

a single arm

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• FIRST GROUP: Premotor gene mutation carriers (PGMC):
• 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
• No symptoms of motor neuron disease explainable otherwise than by mutation in a known ALS gene
• SECOND GROUP: Control subjects to premotor gene mutation carriers (CTR):
• years of age
• Provision of a written informed consent
• Affiliation with a social security scheme or beneficiary of such a scheme
• No known genetic mutation and no known ALS disease in close family
• No diagnosed motor-neuron disease
• THIRD GROUP: ALS (EALS) / ALS mimics (MIM)
• years of age
• provision of a written informed consent

You may not qualify if:

• 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
• Foreseen inability to attend scheduled visits
• Persons refusing to take one of the following samples: Acquisition of blood samples, Acquisition of tear fluid samples, Acquisition of urine sample

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead
• Technical University of Munich: collaborator

Study Sites (1)

CHU Tours

Tours, France, 37000, France

RECRUITING

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Interventions

Spinal Puncture; Blood Specimen Collection

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

Intervention Hierarchy (Ancestors)

Biopsy; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Techniques, Neurological; Punctures; Therapeutics; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Philippe CORCIA, Professor

CONTACT

+33247473724; philippe.corcia@univ-tours.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Model Details: 3 groups will be recruited in this study: a pre-symptomatic patient with a genetic mutation responsible for ALS, a control group and a final group of patients with precose ALS.

Study Record Dates

• First Submitted: January 8, 2025
• First Posted: October 8, 2025
• Study Start: September 30, 2024
• Primary Completion: April 1, 2026
• Study Completion: April 1, 2026
• Last Updated: October 8, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)