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Apport en pratique clinique du dosage des neurofilaments chez les patients atteints de Sclérose Latérale Amyotrophique sur l’anticipation de la ventilation non-invasive, de la gastrostomie et des soins palliatifs
Mémoire de Master / Thèse d'exercice

Apport en pratique clinique du dosage des neurofilaments chez les patients atteints de Sclérose Latérale Amyotrophique sur l’anticipation de la ventilation non-invasive, de la gastrostomie et des soins palliatifs

Edwige Ramé
Masters , Université de Montpellier
04/10/2024

Résumé

Ventilation noninvasive Neurofilament light chain Biomarker clinic Sclérose latérale amyotrophique -- Diagnostic Filaments intermédiaires -- Analyse Marqueurs biologiques Ventilation non invasive -- Prévention Gastrostomie -- Prévention Soins palliatifs -- Prévention Maladie de Charcot Ventilation non effractive -- prévention et contrôle Amyotrophic lateral sclerosis Prognosis Gastrostomy Palliative care
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Its diagnosis can be challenging and its prognosis highly variable from one patient to another. Serum neurofilament light chain (sNfL) levels are a valuable diagnostic and prognostic biomarker in ALS. However, their role and impact on the clinical management of patients is still insufficiently studied. Our aim was to show the impact of NfL measurements and its possible use in ALS management, as implemented in a clinical setting at a tertiary ALS centre. Results: comparisons between the groups where sNfL measures were “blinded to clinician” or “used for patient assessment” showed significant differences. In the group where sNfL levels were used, clinicians initiated interventions such as non-invasive ventilation (NIV), gastrostomy and palliative care earlier and in a more targeted manner. Analysis of sNfL levels confirmed their correlation with more rapid disease progression, but it was the direct integration of sNfL into clinical decisions that had the greatest impact, enabling more tailored and individualised management. Conclusion: sNfL levels are not only a reliable biomarker for ALS diagnosis and prognosis but also have the potential to guide clinical management and therapeutic decision-making. By stratifying patients based on sNfL levels, clinicians could more accurately predict disease trajectory and tailor treatment strategies accordingly. Further studies are warranted to explore the full utility of sNfL in routine clinical practice and its impact on long-term patient outcomes.

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