Amyotrophic Lateral Sclerosis (ALS)PremodiALSNCT07213440
Identification of Early Markers for ALS
A study testing lumbar puncture in people with Amyotrophic Lateral Sclerosis (ALS), run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Amyotrophic Lateral Sclerosis (ALS)
- What is being tested?
- lumbar puncture
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 30 Sep 2024to Apr 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
Show all 20Show fewer
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU Tours
Tours, France, 37000
Philippe Corcia, Pr, philippe.corcia@univ-tours.fr
Philippe Corcia, Pr
About this study
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)
- Being tested
- lumbar puncture
- Medical subject headings
- Amyotrophic Lateral Sclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
lumbar punctureProcedure or surgery
Also called Blood sampling,Urine sample,survey,Lacrimal fluid sampling,Smell test
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.
| Study group | Role | What they receive |
|---|---|---|
| a single arm | Other | all 3 patient groups will have the same tests Receives: Procedure: lumbar puncture |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: 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
Measured: 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.
Measured: 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.
Measured: Baseline, 1 year
Questionnaire
Complete a Questionnaire with health data In Premotor gene mutation carriers vs. Control group and Early ALS vs. ALS Mimics.
Measured: 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.
Measured: 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
Measured: 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.
Measured: Baseline, 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Oct 2025
- Study start30 Sep 2024
- Primary completionApr 2027 (estimated)
- Study completionApr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Amyotrophic Lateral Sclerosis (ALS)Studies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- 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.
- Masking
- None (open label)
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Collaborators
- Technical University of Munich
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07213440
- Sponsor's protocol ID
- C23-41
- Other IDs
- IDRCB
- Acronym
- PremodiALS
- Status last verified
- May 2026
- First submitted
- 8 Jan 2025
- Last updated
- 7 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Early Markers for ALS
- ClinicalTrials.gov ID
- NCT07213440
- Acronym / sponsor ID
- PremodiALS / C23-41
- Conditions
- Amyotrophic Lateral Sclerosis (ALS)
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Collaborators
- Technical University of Munich
- Study start
- 30 Sep 2024 (actual)
- Primary completion
- Apr 2027 (estimated)
- Study completion
- Apr 2027 (estimated)
- First posted
- 8 Oct 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- 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.
| Arm | Type | Receives |
|---|---|---|
| a single arm | Other | Procedure: lumbar punctureall 3 patient groups will have the same tests |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (20 listed)
- 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
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| lumbar punctureAlso: Blood sampling,Urine sample,survey,Lacrimal fluid sampling,Smell testAfter 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. | Procedure or surgery | a single arm |
Primary outcome
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
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
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
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.
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.
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.
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.
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
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Jul 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing lumbar puncture in people with Amyotrophic Lateral Sclerosis (ALS), run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 20 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 7 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Philippe CORCIA, Professor (+33247473724 ext. +33247473724, philippe.corcia@univ-tours.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Differential proteome from plasma, tear fluid, Cerebrospinal fluid (time frame: Baseline, 1 year). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Jul 2026.