Gallarate

Researchers are studying the safety and effectiveness of ravulizumab in children and adolescents diagnosed with Neuromyelitis Optica Spectrum Disorder (NMOSD) who test positive for aquaporin-4 antibodies. This Phase 2/3 trial aims to understand how well ravulizumab works to reduce disease relapses and monitor its effects in this pediatric population. Participants will receive an initial weight-based loading dose of ravulizumab on Day 1, followed by maintenance doses either every 8 weeks or every 4 weeks depending on their weight. Those continuing into the Extension Period will keep receiving maintenance doses on Day 351 and then regularly every 8 or 4 weeks as per their weight. The treatment is administered intravenously. Throughout the study, participants will be monitored for changes in their relapse rates and the time to their first relapse over 50 weeks. Safety and pharmacokinetics will also be assessed. Participants must be vaccinated against meningococcal infection and other infections like Hib and Streptococcus pneumoniae before starting. The study tracks various health measures and treatment responses to evaluate ravulizumab's impact over the trial duration.

Primary biliary cholangitis (PBC) is a rare autoimmune liver disease that causes chronic inflammation of the bile ducts inside the liver, leading to progressive damage and possible liver failure if untreated. Most patients with PBC in Italy are diagnosed early and treated with ursodeoxycholic acid (UDCA), the only approved medication, but a significant number, especially younger patients, do not respond well to this treatment. This study aims to create a national database of PBC patients in Italy linked to biological sample storage to better understand the disease's biology, subtypes, and progression. Researchers will collect detailed clinical information and laboratory investigations from PBC patients across about 60 participating centers in Italy. Data will be recorded using electronic forms at the start and annually thereafter. Biological samples will also be collected to study patients' genetics, immune system, and molecular differences among clinical profiles. This infrastructure will support translational research and improve knowledge about why some patients do not benefit from UDCA and may need liver transplantation. Participants will provide clinical and laboratory data and biological samples over time. The study will measure patient phenotypes and sub-phenotypes linked to disease progression over a total duration of 10 years. This resource will aid researchers, clinicians, epidemiologists, and industry by offering valuable data for clinical trials, patient care, and new treatment development. The study also supports European initiatives on rare diseases by building a comprehensive Italian PBC patient database.

Primary sclerosing cholangitis (PSC) is a rare, chronic liver disease characterized by inflammation and scarring of the bile ducts, which can lead to liver failure and increased risk of colorectal and liver cancers. Both children and adults can be affected, and PSC significantly reduces life expectancy, with a median survival of 17 years after diagnosis. This research aims to create a national database in Italy to better understand the disease's incidence, prevalence, patient types, progression factors, and responses to new treatments, since current data in Italy are limited and likely underestimate the true burden of PSC. The study involves recruiting patients diagnosed with PSC to collect detailed clinical information, laboratory test results, and biological samples. Clinicians will enter this data into electronic case report forms at the start and then annually. The collected biological samples will help researchers explore important aspects of patients' biology related to PSC. This observational study does not involve experimental treatment but focuses on gathering comprehensive data to support future research and improve understanding of PSC. Participants will be involved for the overall study duration, which spans 10 years. During this time, researchers will assess clinical profiles, monitor disease progression, and identify patient subtypes at higher risk. The study will track safety and long-term effects of emerging therapies through ongoing data collection. The primary outcome is to identify and define distinct PSC patient phenotypes and sub-phenotypes linked to disease progression risks, helping guide future care and research.