ALS (Amyotrophic Lateral Sclerosis)FTDNeuropathicPsychiatric DisordersIdiopathic Intracranial HypertensionFrontotemporal Dementia (FTD)
Study summary
Diagnosis of ALS/FTD disease spectrum is challenging because it largely relies on clinical symptoms. Identifying novel biomarkers is essential for a paradigm shift towards a more precise biological-based diagnosis. To achieve this aim, having access to proper specimens and analytical methods is crucial. Our team of experts in neurology, biology, chemistry, physics, and AI will explore ALS/FTD from novel perspectives using transcriptomics, proteomics, genomics and other innovative approaches to analyzing easily accessible tissues. The seed amplification assay (SAA) will be also exploited to detect pathological TDP-43. This project aims to create disease fingerprints useful for patient stratification and monitoring of disease progression, and to evaluate the therapeutic efficacy in clinical trials, thus overcoming the limits of clinical interpretation. Discovering new biomarkers and cellular pathways will improve the diagnosis and treatment of these devastating diseases.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* Clinical criteria for ALS (Brooks et al., 2000; de Carvalho M., 2008), FTD (GornoTempini et al., 2011; Rascovsky et al., 2011)
Exclusion Criteria:
* na
Primary outcome measure(s)
Evaluation of SAA accuracy in detecting misfolded TDP-43 in CSF, skin, OM, and tears of ALS and FTD patients. — 24 months the primary outcome of the study will involve investigating the distribution of misfolded TDP-43, a protein associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), using ultrasensitive techniques namely Seed Amplification Assays (SAA). These assays will be employed to detect minute amounts of misfolded TDP-43 in cerebrospinal fluid (CSF), olfactory mucosa (OM), serum, skin, and tears from patients, with a clinical diagnosis of bulbar ALS (bALS; n=32), spinal ALS (sALS; n=105), FTD (n=66), and other non-neurodegenerative neurological conditions (NNC; n=27). By analyzing multiple peripheral tissues from the same patients, the generation of a disease biological fingerprint, obtained by integrating SAA analysis, other biochemical tests together with clinical and instrumental findings will be attempted. We aim to explore the reliability of this approach to improve the clinical diagnosis of ALS and FTD by allowing patient stratification.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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