Identifying early signs of ALS using advanced imaging techniques
Stratification of Presymptomatic Amyotrophic Lateral Sclerosis: the Development of Novel Imaging Biomarkers
NA · Assistance Publique - Hôpitaux de Paris · NCT05358431
This study is trying to find early signs of ALS in people with a specific genetic mutation by using advanced imaging techniques to see how the disease develops over time.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 120 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris (other) |
| Locations | 1 site (Paris) |
| Trial ID | NCT05358431 on ClinicalTrials.gov |
What this trial studies
This study aims to track the progression of amyotrophic lateral sclerosis (ALS) from the presymptomatic to symptomatic phases by focusing on individuals with a specific genetic mutation (C9orf72). It will involve a longitudinal analysis of asymptomatic carriers and symptomatic ALS patients, utilizing advanced spinal and brain imaging techniques alongside clinical, genetic, and neuropsychological assessments. The study will compare these changes with healthy controls to better understand disease mechanisms and identify potential biomarkers for early detection and monitoring.
Who should consider this trial
Good fit: Ideal candidates include asymptomatic first-degree relatives of C9orf72 mutation carriers and symptomatic ALS patients with the same mutation.
Not a fit: Patients with neurological comorbidities or those who do not meet the genetic criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier diagnosis and better monitoring of ALS, potentially improving patient outcomes.
How similar studies have performed: While there have been few studies focusing on spinal cord imaging in ALS, this approach is relatively novel and aims to fill a significant gap in current research.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion criteria shared by all the different cohorts and controls :
* Age more than 18 years.
* Signature of a consent form for clinical, paraclinical and genetic assessment
* Fluent in French
* Affiliated to the French Security Healthcare System ("Sécurité Sociale")
* Absence of neurological comorbidity (stroke, tumor etc)
The inclusion criteria for asymptomatic relatives :
* Being a first-degree to a person carrying a C9orf72 mutation.
* Absence of proven clinical signs of FTD, ALS, language, praxic, memory disorders, Parkinsonian syndrome.
Inclusion criteria for symptomatic ALS patients :
* Patients fulfilling the El Escorial criteria for probable or definite ALS
* Presence of a C9orf72 mutation
Exclusion criteria for participants from all cohorts :
* Contraindication to MRI and TMS
* Impossibility to stay in decubitus during 1 hour,
* For women, childbearing or breastfeeding
* For women of childbearing potential: positive HCG test or positive urine pregnancy test
Where this trial is running
Paris
- ICM, GH Pitié-Salpêtrière — Paris, France (RECRUITING)
Study contacts
- Study coordinator: Pierre Francois PRADAT, MD, PH
- Email: pierre-francois.pradat@aphp.fr
- Phone: 1.42.16.24.71
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Amyotrophic Lateral Sclerosis, MRI, ALS, FTD, MUNE, C9orfF72, presymptomatic