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NCT Number: NCT07213440

Identification of Early Markers for ALS

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.

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Key information

Conditions

Amyotrophic Lateral Sclerosis (ALS) Amyotrophic Lateral Sclerosis Central Nervous System Diseases Metabolic Diseases Motor Neuron Disease Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Proteostasis Deficiencies Spinal Cord Diseases TDP-43 Proteinopathies

Age range

18 year–90 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHU Tours

Tours, France, 37000

Location status: Recruiting

Location contact

Philippe Corcia, Pr

CONTACT

[email protected]

Philippe Corcia, Pr

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Other names: Blood sampling,Urine sample,survey,Lacrimal fluid sampling,Smell test

Primary outcomes

  1. Differential proteome from plasma, tear fluid, Cerebrospinal fluid

    Time frame: Baseline, 1 year

    Proteome (DIA-MS) from plasma, tear fluid and cerebrospinal fluid in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics

  2. Differential metabolome from plasma, urine , Cerebrospinal fluid

    Time frame: Baseline, 1 year

    Metabolome (LC-MS/MS) from plasma, Urine and cerebrospinal fluid in Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics

  3. Nf-L, tau/phospho-tau, GFAP (SIMOA) from plasma and CSF

    Time frame: Baseline, 1 year

    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

  4. Soluble p75ECD (ELISA) from urine

    Time frame: Baseline, 1 year

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

  5. B-SIT score (0-12 pts.)

    Time frame: Baseline, 1 year

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

  6. Questionnaire

    Time frame: Baseline, 1 year

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

  7. ECAS-score

    Time frame: Baseline, 1 year

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

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

    Time frame: Baseline, 1 year

    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

  9. Standardized neurological examination by Manual Muscle Testing (MMT)

    Time frame: Baseline, 1 year

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Philippe CORCIA, Professor

CONTACT

[email protected]

+33247473724 ext. +33247473724

Sponsors and collaborators

Lead sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Other Gov

Collaborators

  • Technical University of Munich

Registry information

Acronym: PremodiALS

Important dates

Study start
2024
Primary completion
2027
Study completion
2027
First posted
Oct 8, 2025
Registry last updated
Jul 7, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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