Finding early biological signs of ALS

Identification of Early Markers for ALS

This project will test whether a molecular fingerprint in spinal fluid can detect ALS early in people with ALS gene mutations, in early ALS patients, and in matched controls.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 60 (estimated)
• Ages: 18 Years to 90 Years
• Sex: All
• Sponsor: Institut National de la Santé Et de la Recherche Médicale, France (Government)
• Locations: 1 site (Tours, France)
• Trial ID: NCT07213440 on ClinicalTrials.gov

What this trial studies

Researchers will collect cerebrospinal fluid by lumbar puncture and clinical data from three groups: premotor gene mutation carriers, early ALS patients (including ALS mimics), and healthy control subjects. Molecular analyses will be used to develop a clinical molecular fingerprint that may reveal early pathologic changes before overt motor symptoms. The work aims to provide insight into ALS pathogenesis and to support earlier or premotor diagnosis. The study is led by INSERM with collaboration from the Technical University of Munich and will enroll participants at CHU Tours in France.

Who should consider this trial

Good fit: Ideal candidates are adults (18–90) who can give informed consent, have social security coverage, and belong to one of the groups: premotor ALS gene mutation carriers, early ALS/ALS mimics, or healthy controls, and who can undergo lumbar puncture.

Not a fit: Individuals with advanced, late-stage ALS or those unable or unwilling to undergo lumbar puncture are unlikely to receive direct benefit from participation.

Why it matters

Potential benefit: If successful, the molecular fingerprint could enable earlier diagnosis of ALS so patients can begin disease‑modifying treatments sooner.

How similar studies have performed: Some biomarker studies (for example neurofilament light) have shown promise for detecting neurodegeneration, but a validated premotor molecular signature for ALS has not yet been established.

Eligibility criteria

Inclusion Criteria:

FIRST GROUP: Premotor gene mutation carriers (PGMC):

* 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
* 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):

* 18-90 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)

* 18-90 years of age
* provision of a written informed consent
* affiliation with a social security scheme or beneficiary of such a scheme
* Patients with pure motor symptom or early ALS (EALS) or ALS mimics (MIM)

EALS are patients with pure motor symptom / early motor symptoms of ALS, including those, where the diagnosis of ALS can already be made. These may be patients who meet the following criteria:

According to El Escorial criteria : patients who can be classified as possible ALS or those who show upper motor neuron (UMN) signs only or lower motor neuron (LMN) signs only, so that classification as possible ALS is also not possible. Symptoms should not persist for more than 12 months.

According to Gold Coast criteria: Patients who do not fulfill the criterion of temporal progression or patients who only show UMN signs or only LMN signs in one region and thus do not fulfill the diagnostic criteria of ALS.

Exclusion Criteria:

* 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

Where this trial is running

Tours, France

• CHU Tours — Tours, France, France (Recruiting)

Study contacts

• Study coordinator: Philippe CORCIA, Professor

Conditions Amyotrophic Lateral Sclerosis