Amyotrophic Lateral SclerosisFIBRALSNCT06450691
Modeling Amyotrophic Lateral Sclerosis With Fibroblasts
A study testing biopsy in people with Amyotrophic Lateral Sclerosis, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. This longitudinal study involves three cohorts of participants: patients with sporadic or hereditary ALS, asymptomatic individuals carrying pathogenic mutations responsible for ALS, and control subjects. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Amyotrophic Lateral Sclerosis
- What is being tested?
- biopsy
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 110 participants
- Where
- 1 siteFrance
- Study dates
- 28 Aug 2025to Sep 2034
- 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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- adults, both sexes
- with written consent to participate in the study
- affiliated to a social security scheme
- ALS patients :
- patients with ALS according to the revised El Escorial criteria :
- with a hereditary form of ALS, defined by the presence of a family history of ALS or by the demonstration of a pathogenic mutation in the patient or
Show all 12Show fewer
- with a juvenile form of the disease, defined by onset of symptoms at less than 30 years of age or
- with a sporadic form of ALS
- Asymptomatic mutation carriers :
- Asymptomatic individuals who carry a mutation causing ALS but have not developed symptoms.
- Healthy subjects:
- control individuals, taking into account male/female and close age matching
Who cannot join
- with a known skin disease (acne, atopic dermatitis, psoriasis, melanoma, skin carcinoma, rosacea, scabies; as referenced on http://dermato-info.fr/), which in the investigator's opinion constitutes a contraindication to skin biopsy
- have a platelet count of less than 75,000/mm3 in a laboratory test less than 3 months old,
- with a proven allergy to lidocaine or prilocaine,
- Pregnant or breast-feeding women, or subjects under guardianship, curatorship or safeguard of justice.
- Patient's condition which, in the opinion of the investigator, is incompatible with skin sampling or participation in the study.
- Participation in a clinical trial (involving a drug) or other interventional research if this interferes with FIBRALS research.
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
CIC Neurosciences
Paris, 75013
Maria del Mar Amador, MD, 33142162472, mariadelmar.amador@aphp.fr
About this study
Official title: Modeling of Amyotrophic Lateral Sclerosis Using Patient Fibroblasts to Study Different Form of the Disease.
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. This longitudinal study involves three cohorts of participants: patients with sporadic or hereditary ALS, asymptomatic individuals carrying pathogenic mutations responsible for ALS, and control subjects. In this study, a skin biopsy and blood sampling will be performed at the initial visit (M0), then at M12 (+/- 2 months) for patients, and at M36 (+/- 12 months) for asymptomatic carriers of pathogenic mutations. The aim of this research is to model ALS pathology using fibroblasts derived from the patients' skin biopsies.
Read the detailed description
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. This longitudinal study involves three cohorts of participants: patients with sporadic or hereditary ALS, asymptomatic individuals carrying pathogenic mutations responsible for ALS, and control subjects. In this study, a skin biopsy and blood sampling will be performed at the initial visit (M0), then at M12 (+/- 2 months) for patients, and at M36 (+/- 12 months) for asymptomatic carriers of pathogenic mutations. The aim of this research is to model ALS pathology using fibroblasts derived from the patients' skin biopsies.
- Conditions
- Amyotrophic Lateral Sclerosis
- Being tested
- biopsy
- Keywords
- amyotrophic lateral sclerosis, genetic, fibroblasts
- 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.
biopsyProcedure or surgery
skin biopsy and blood sampling
| Study group | Role | What they receive |
|---|---|---|
| participants (SLA, healthy controls and asymptomatics) | Experimental | Patients fulfilling the El Escorial criteria definite ALS or asymptomatics or Healthy controls Receives: Procedure: biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts
Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts subjected to various cellular stresses by immunofluorescence analysis.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2024
- Study start28 Aug 2025
- Primary completionSep 2034 (estimated)
- Study completionSep 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Amyotrophic Lateral SclerosisStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 110 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06450691
- Sponsor's protocol ID
- APHP231795
- Acronym
- FIBRALS
- Status last verified
- Apr 2026
- First submitted
- 5 Jun 2024
- Last updated
- 13 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Modeling of Amyotrophic Lateral Sclerosis Using Patient Fibroblasts to Study Different Form of the Disease.
- ClinicalTrials.gov ID
- NCT06450691
- Acronym / sponsor ID
- FIBRALS / APHP231795
- Conditions
- Amyotrophic Lateral Sclerosis
- Keywords
- amyotrophic lateral sclerosis, genetic, fibroblasts
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 110 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 28 Aug 2025 (actual)
- Primary completion
- Sep 2034 (estimated)
- Study completion
- Sep 2034 (estimated)
- First posted
- 10 Jun 2024 (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.
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. This longitudinal study involves three cohorts of participants: patients with sporadic or hereditary ALS, asymptomatic individuals carrying pathogenic mutations responsible for ALS, and control subjects. In this study, a skin biopsy and blood sampling will be performed at the initial visit (M0), then at M12 (+/- 2 months) for patients, and at M36 (+/- 12 months) for asymptomatic carriers of pathogenic mutations. The aim of this research is to model ALS pathology using fibroblasts derived from the patients' skin biopsies.
Detailed description
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. This longitudinal study involves three cohorts of participants: patients with sporadic or hereditary ALS, asymptomatic individuals carrying pathogenic mutations responsible for ALS, and control subjects. In this study, a skin biopsy and blood sampling will be performed at the initial visit (M0), then at M12 (+/- 2 months) for patients, and at M36 (+/- 12 months) for asymptomatic carriers of pathogenic mutations. The aim of this research is to model ALS pathology using fibroblasts derived from the patients' skin biopsies.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| participants (SLA, healthy controls and asymptomatics) | Experimental | Procedure: biopsyPatients fulfilling the El Escorial criteria definite ALS or asymptomatics or Healthy controls |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (12 listed)
- adults, both sexes
- with written consent to participate in the study
- affiliated to a social security scheme
- patients with ALS according to the revised El Escorial criteria :
- with a hereditary form of ALS, defined by the presence of a family history of ALS or by the demonstration of a pathogenic mutation in the patient or
Key exclusion criteria (6 listed)
- with a known skin disease (acne, atopic dermatitis, psoriasis, melanoma, skin carcinoma, rosacea, scabies; as referenced on http://dermato-info.fr/), which in the investigator's opinion constitutes a contraindication to skin biopsy
- have a platelet count of less than 75,000/mm3 in a laboratory test less than 3 months old,
- with a proven allergy to lidocaine or prilocaine,
- Pregnant or breast-feeding women, or subjects under guardianship, curatorship or safeguard of justice.
- Patient's condition which, in the opinion of the investigator, is incompatible with skin sampling or participation in the study.
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 |
|---|---|---|
| biopsyskin biopsy and blood sampling | Procedure or surgery | participants (SLA, healthy controls and asymptomatics) |
Primary outcome
Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts
Time frame: 1 year
Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts subjected to various cellular stresses by immunofluorescence analysis.
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 13 Apr 2026.
Related trials for Amyotrophic Lateral Sclerosis
Not yet recruitingPhase 1
A Study of Single Ascending Doses of NI112 in Adults With Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic Lateral Sclerosis (ALS)
Recruiting
MindEx: A Novel, Multifocal, Cognitive Brain-Machine Interface System
Paralysis; Quadriplegic, Quadraplegia
RecruitingPhase 1/2
Study is to Assess the Safety and Tolerability of VTx-002 in Participants With ALS
Amyotrophic Lateral Sclerosis
RecruitingObservational study
Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Frontotemporal Dementia, Amyotrophic Lateral Sclerosis
Recruiting
Anticipated Patient and Caregiver Burden
Amyotrophic Lateral Sclerosis
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 biopsy in people with Amyotrophic Lateral Sclerosis, run by Assistance Publique - Hôpitaux de Paris 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 12 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 13 Apr 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 Maria del Mar Amador, MD (33142162472 ext. 33, mariadelmar.amador@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Detection of cytoplasmic TDP-43, TIA1 and/or p62 aggregates in patient fibroblasts (time frame: 1 year). 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 13 Apr 2026.