Sesto Fiorentino

Researchers are investigating the ALSFTD disease spectrum, which includes amyotrophic lateral sclerosis ALS and frontotemporal dementia FTD. These two conditions share clinical, genetic, and pathological features and may even occur together in some patients. Diagnosis mainly depends on clinical symptoms, making it challenging. This study aims to discover new biological markers, called biosignatures, to improve diagnosis, patient classification, and monitoring of disease progression using advanced methods and multidisciplinary expertise.

Researchers are exploring early biomarkers in the olfactory mucosa, blood, and urine to improve diagnosis of Parkinsons disease PD, multiple system atrophy MSA, and dementia with Lewy bodies DLB. These diseases are linked to misfolded alpha-synuclein proteins that form aggregates in the brain, which are key diagnostic markers. The study combines expertise in neurology, molecular biology, biophysics, and machine learning to analyze these biomarkers for better disease recognition. The study uses advanced and ultrasensitive tests such as RT-QuIC, Simoa SR-X, ELISA, and NTA on samples of olfactory mucosa, blood, and urine from patients with PD, MSA, and DLB. Techniques like transmission electron microscopy TEM and nuclear magnetic resonance NMR will characterize protein aggregates. Machine learning will combine clinical and experimental data to identify specific patterns that could distinguish these diseases. Participants will provide easily collectible samples like olfactory mucosa, blood, and urine periodically for up to three years. Researchers will assess olfactory function and analyze biomarkers to develop predictive models for diagnosis. The study includes safety monitoring and aims to enable ongoing disease monitoring and evaluation of treatment effects. The total study duration is three years, with multiple assessments and advanced laboratory analyses conducted over this period.

This research aims to create and analyze a national multicenter database of patients in Italy affected by hypoparathyroidism or pseudohypoparathyroidism, two rare endocrine diseases affecting calcium regulation. The studys purpose is to collect detailed medical, genetic, diagnostic, clinical, and treatment data from a large number of patients to better understand these conditions, their prevalence, incidence, and clinical features. This observational study does not involve interventions but focuses on gathering valuable information to improve patient care and knowledge over time. The study will involve 41 specialist clinical centers across Italy, including endocrinology and pediatric departments, collecting data from patients of any age and gender diagnosed with chronic hypoparathyroidism or pseudohypoparathyroidism. Data collection will be both retrospective and prospective, spanning 10 years from the initial recruitment visit and continuing through regular follow-up visits as part of routine clinical care. No new treatments or additional procedures beyond standard care are part of this observational study. Participants will have their health information collected anonymously, including medical history, bone health assessments, genetic testing results, biochemical measures, treatment responses, and quality of life questionnaires. Researchers will analyze these data to assess disease prevalence, clinical characteristics, bone fragility, and therapy outcomes. The study emphasizes long-term follow-up with continuous data updates during routine medical visits, aiming to enhance understanding and management of these rare diseases over a decade.

Researchers are creating and managing a national multicenter database in Italy to study patients with parathyroid carcinoma or atypical parathyroid adenoma, two very rare types of parathyroid gland cancers. The study aims to collect and analyze detailed clinical, genetic, diagnostic, histological, and therapeutic data from a wide number of patients across 33 specialist centers throughout Italy. This observational research seeks to improve understanding of these rare tumors and guide better clinical and therapeutic management. The study involves two patient groups those with parathyroid carcinoma and those with atypical parathyroid adenoma, including both sporadic and genetic forms of the diseases. Data will be collected both retrospectively from medical records and prospectively during routine follow-up visits over a 10-year period. Treatments such as surgery and medications are those conventionally used for these conditions, with no additional interventions or visits required by the study. Participants will have their medical history, diagnostic tests, biochemical and genetic data, treatments, and follow-up outcomes recorded anonymously in the database. Researchers will assess disease prevalence, tumor characteristics, and responses to therapy over short and long terms. The study spans approximately 10 years, during which ongoing clinical data is gathered to refine medical knowledge and improve patient care for these rare parathyroid cancers.