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Recruiting NCT07213440

Identification of Early Markers for ALS

No phase Interventional Amyotrophic Lateral Sclerosis (ALS)

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: lumbar puncture.
Who it may be relevant to
Registry conditions: Amyotrophic Lateral Sclerosis (ALS). Basic parameters: 18 years — 90 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Interventions

  • Procedure lumbar puncture
    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.

Primary outcome measures

  • Differential proteome from plasma, tear fluid, Cerebrospinal fluid [Time frame: Baseline, 1 year]
  • Differential metabolome from plasma, urine , Cerebrospinal fluid [Time frame: Baseline, 1 year]
  • Nf-L, tau/phospho-tau, GFAP (SIMOA) from plasma and CSF [Time frame: Baseline, 1 year]
  • Soluble p75ECD (ELISA) from urine [Time frame: Baseline, 1 year]
  • B-SIT score (0-12 pts.) [Time frame: Baseline, 1 year]
  • Questionnaire [Time frame: Baseline, 1 year]
  • ECAS-score [Time frame: Baseline, 1 year]
  • Standardized neurological examination by ALSFRS-R (Revised Amyotrophic Lateral Sclerosis Functional Rating Scale) [Time frame: Baseline, 1 year]
  • Standardized neurological examination by Manual Muscle Testing (MMT) [Time frame: Baseline, 1 year]

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Diagnostic

Study locations

France · 1 center
  • CHU Tours — Tours

Identifiers

NCT: NCT07213440 · C23-41 · IDRCB

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗