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Introduction: Over the years, disease registers have been increasingly considered a source of reliable and valuable population studies. However, the validity and reliability of data from registers may be limited by missing data, selection bias or data quality not adequately evaluated or checked. This study reports the analysis of the consistency and completeness of the data in the Italian Multiple Sclerosis and Related Disorders Register. Methods: The Register collects, through a standardized Web-based Application, unique patients. Data are exported bimonthly and evaluated to assess the updating and completeness, and to check the quality and consistency. Eight clinical indicators are evaluated. Results: The Register counts 77,628 patients registered by 126 centres. The number of centres has increased over time, as their capacity to collect patients. The percentages of updated patients (with at least one visit in the last 24 months) have increased from 33% (enrolment period 2000–2015) to 60% (enrolment period 2016–2022). In the cohort of patients registered after 2016, there were ≥ 75% updated patients in 30% of the small centres (33), in 9% of the medium centres (11), and in all the large centres (2). Clinical indicators show significant improvement for the active patients, expanded disability status scale every 6 months or once every 12 months, visits every 6 months, first visit within 1 year and MRI every 12 months. Conclusions: Data from disease registers provide guidance for evidence-based health policies and research, so methods and strategies ensuring their quality and reliability are crucial and have several potential applications. [ABSTRACT FROM AUTHOR]

Background: Active relapsing-remitting (RR) and secondary progressive (SP) multiple sclerosis (MS) are currently defined as "relapsing MS" (RMS). The aim of this cross-sectional study was to assess drivers of treatment switches due to clinical relapses in a population of RMS patients collected in the Italian MS and Related Disorders Register (I-MS&RD)., Methods: RRMS and SPMS patients with at least one relapse in a time window of 2 years before of data extraction were defined as RMS. Factors associated with disease-modifying therapy (DMT) switching due to clinical activity were assessed through multivariable logistic regression models in which treatment exposure was included as the last recorded DMT and the last DMT's class [moderate-efficacy (ME), high-efficacy (HE) DMTs and anti-CD20 drugs]., Results: A cohort of 4739 RMS patients (4161 RRMS, 578 SPMS) was extracted from the I-MS&RD. A total of 2694 patients switching DMTs due to relapses were identified. Switchers were significantly (p < 0.0001) younger, less disabled, more frequently affected by an RR disease course in comparison to non-switcher patients. The multivariable logistic regression models showed that Alemtuzumab (OR 0.08, 95% CI 0.02-0.37), Natalizumab (0.48, 0.30-0.76), Ocrelizumab (0.1, 0.02-0.45) and Rituximab (0.23, 0.06-0.82) exposure was a protective factor against treatment switch due to relapses. Moreover, the use of HE DMTs (0.43, 0.31-0.59), especially anti-CD20 drugs (0.14, 0.05-0.37), resulted to be a protective factor against treatment switch due to relapses in comparison with ME DMTs., Conclusions: More than 50% of RMS switched therapy due to disease activity. HE DMTs, especially anti-CD20 drugs, significantly reduce the risk of treatment switch., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)

Objectives: Approved multiple sclerosis (MS) treatments include subcutaneous and intramuscular interferon beta (IFN-beta) Patient satisfaction during long-term IFN-beta treatment is crucial. This study investigated the satisfaction of patients with relapsing-remitting MS treated with IFN-beta-1a (Rebif) by the autoinjection system, Rebiject., Materials and Methods: This prospective observational study recruited subjects with relapsing-remitting MS (n = 76) from 19 neurological centers in Italy who were eligible for subcutaneous IFN-beta-1a treatment either as a first immunomodulatory therapy or as a switch from other treatments. Patients received IFN-beta-1a 44 mug 3 times weekly via the Rebiject system. A questionnaire on the use of Rebiject and the most common adverse effects related to IFN-beta-1a administration was completed monthly under the supervision of trained nurses., Results: Satisfaction with treatment was reported by 80.2% of patients who received at least 1 dose. Advantages reported for the Rebiject system included its convenience (53% of all patients), ease of use (25%), reduced trauma and pain (11% and 6%, respectively), and reduced local skin reactions (5%). No significant changes from baseline were observed regarding the frequency or severity of local reactions., Conclusions: During the 1-year observation of this small cohort, most patients considered the Rebiject system to be convenient, with a third of the patients feeling that the system was easier to use than conventional procedures. Rebiject was also associated with less pain and trauma in some patients. Use of Rebiject may facilitate IFN-beta-1a administration and may lead to an increase in compliance and adherence, thus increasing the effectiveness of treatment.

A large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia is reported. The clinical picture was uniform and characterized by insidiously progressive lower extremity weakness and spasticity. The mean age at onset of symptoms was 8.3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3.