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 efficac
| Condition(s) | Amyotrophic Lateral Sclerosis (ALS) |
|---|---|
| Status | Recruiting |
| Phase | NA |
| Study type | Interventional |
| 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 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. |
| Who can participate | 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) |
| Ages | 18 Years to 90 Years |
| Sex | All |
| Accepts healthy volunteers | Yes |
| Lead sponsor | Institut National de la Santé Et de la Recherche Médicale, France |
| Locations | Tours, France, France |
| Start date | 2024-09-30 |
| NCT ID | NCT07213440 |
| Official listing | https://clinicaltrials.gov/study/NCT07213440 |