Cladribine tablets for highly active relapsing-remitting multiple sclerosis in Poland: a real-world, multi-centre, retrospective, cohort study during the COVID-19 pandemic.

INTRODUCTION: Treatment with cladribine tablets is indicated in highly active relapsing-remitting multiple sclerosis (RRMS). Cladribine tablets proved safe and effective in the pivotal CLARITY trial, but that trial included primarily treatment-naïve patients. In clinical practice however, cladribine tablets are often given to patients who have failed other treatments. Therefore, this study investigated the real-world safety and efficacy of cladribine tablets. MATERIAL AND METHODS: We gathered data from nine MS clinical centres across Poland for patients with RRMS who started treatment with cladribine tablets from December 2019 to June 2022. RESULTS: We enrolled 140 patients, with follow-up data available for 136 in year 1 and for 66 in year 2. At baseline, the mean age was 35.6 years, mean disease duration was 7.3 years, median EDSS score was 2.5, and 94% of patients were treatment- -experienced. Thirty-nine patients (27.9%) had undergone COVID-19, and 94 (67.1%) were vaccinated against COVID-19. The annualised relapse rate (ARR) decreased from 1.49 at baseline to 0.33 in year 1 (p < 0.001) and to 0.25 in year 2 (p < 0.001). The percentage of relapse-free patients increased from 11.5% at baseline to 70.2% in year 1 and 82.1% in year 2. The percentage of patients with active lesions decreased from 91.4% at baseline to 36.2% in year 1 and 18.2% in year 2. EDSS score remained stable or improved in 83.7% of patients in year 1 and 89.6% in year 2. No evidence of disease activity (NEDA-3) was achieved in 42.7% of patients in year 1 and 66.7% in year 2. Only one patient (0.72%) had grade 4 lymphopenia and 21 (15.1%) had grade 3 lymphopenia. Varicella zoster virus infections occurred in three patients. Eight patients discontinued treatment with cladribine: five due to inefficacy, one due to lymphopenia, and two due to a personal decision. CONCLUSIONS: Cladribine tablets proved safe and effective in a real-world cohort of treatment-experienced patients. However, the efficacy measures improved to a lesser extent in our cohort than in the pivotal clinical trial, which is probably due to a higher proportion of treatment-experienced patients in our cohort.

Acute disseminated encephalomyelitis in a patient vaccinated against SARS-CoV-2.

Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease, and there are some data that link this event with various vaccinations. We report a young female admitted to the hospital with headache, fever, back pain, nausea, vomiting, and urinary retention. Two weeks prior, she received the first dose of SARS-CoV-2 mRNA vaccine. Brain and spinal cord magnetic resonance imaging (MRI) showed distinctive for ADEM widespread demyelinating lesions. The patient was successfully treated with methylprednisolone.

Nocturnal paroxysmal dystonia - case report.

Nocturnal paroxysmal dystonia describes a syndrome consisting of recurrent motor episodes of dystonic-dyskinetic features arising from non-rapid eye movement (NREM) sleep. In the article, the authors present female case of nocturnal paroxysmal dystonia. The patient has had attacks since her childhood and was eventually diagnosed at the age of 48. Therapy with carbamazepine considerably reduced the frequency and entent of seizures. The present case evidences that nocturnal paroxysmal dystonia still is a diagnostic challenge for clinicians. Especially, we emphasize the importance of polysomnography in the verification of the diagnosis.

[Association study between exon 4 NFKBIL1 polymorphism and multiple sclerosis]. / Analiza polimorffizmu eksonu 4 NFKBIL1 w populacji chorych na stwardnienie rozsiane.

UNLABELLED: Multiple sclerosis (MS) is conceptualised as a complex autoimmune inflammatory disorder in which several environmental factors act together in a genetically susceptible individual to cause disease. Epidemiological data confirmed that genetic factors are involved in MS pathogenesis. Genes responsible for MS predisposition still await to be identified. The only consistent genetic finding, establishes so far, is the association between MS and a number of HLA haplotypes (locus 6p21.3). NFKBIL1 gene (locus 6p21.31) is one of candidate genes. One of NFKBIL1 gene coding sequence polymorphisms is a non-synonymous thymine-cytosine substitution at position 738 (exon 4) resulting in cysteine-arginine substitution at position 224 of encoded protein. THE AIM OF THE STUDY: To assess the NFKBIL 1 exon 4 contribution to MS genetic predisposition and its relationship to the clinical course of the disease. MATERIAL AND METHODS: 107 unrelated MS patients (77 female ones) attended in Department of Neurology Medical University of Poznari participated in this study. Control group included 110 healthy age and sex matched unrelated volunteers (71 female). Investigation of NFKBIL1 exon 4 polymorphism was performed with use of the single strand conformation polymorphism technique (SSCP). RESULTS: NFKBIL1 exon 4 polymorphism was observed in 10 patients and 9 control samples (9.35% and 8.18% respectively). The results remained statistically insignificant (p = 0.8136). Associations between the polymorphism and course of MS, clinical symptoms at onset, sex (p = 0.2851) and optic neuritis (ON) (p = 0.0865) were also insignificant. However, lack of statistical significance in the two latter parameters suggests insufficient size of the patients and control groups, as the absolute percentage values were remarkably different (respectively: 7.59% female vs. 14.28% male; 2.5% ON-positive vs. 13.4% ON-negative). CONCLUSIONS: The results of the present study do not provide evidence for the association between the NFKBIL1 exon 4 polymorphism and MS predisposition in the investigated Polish population. However, it may have a restricted result on MS course and a protecting effect on optic neuritis in MS patients.