Background The prevalence of multiple sclerosis (MS) is increasing in Gulf Cooperation Council (GCC) countries. Multiple sclerosis contributes to significant burden on patients and caregivers. The pharmacological treatment in MS involves treating acute exacerbations and preventing relapses and disability progression using disease-modifying therapies. Clinical evidence suggests that teriflunomide is one of the therapeutic choices for patients with relapsing–remitting MS (RRMS). However, genetic and cultural differences across different regions may contribute to variations in drug use. Therefore, it is necessary to consider real-world evidence for teriflunomide usage in GCC countries. Methods An expert group for MS gathered from GCC countries in December 2020. The consensus highlighting role of teriflunomide in MS management has been developed using clinical experiences and evidence-based approach. Results The expert-recommended patient profile for teriflunomide usage includes individuals aged 18 years and above, both men and women (on effective contraceptives) with clinically isolated syndrome or RRMS. The factors considered were cost-effectiveness of the drug, patient preference, adherence, monitoring, established safety profile, and coronavirus disease 2019 status. Conclusion Expert recommendations based on their clinical experience will be more helpful to clinicians in clinical settings regarding the usage of teriflunomide and provide valuable insights applicable in day-to-day practice.
Over the past decade, the development of high-efficacy disease-modifying therapies (DMTs) has been responsible for more effective management of relapsing-remitting multiple sclerosis (RRMS). However, the gaps in optimal care for this complex disease remain. Alemtuzumab (Lemtrada®) is a highly efficacious DMT that shows better patient outcomes and therapeutic benefits, but its use is under-recognized in the Gulf region. Experts in the care of multiple sclerosis shared their opinions based on study data and daily clinical experience in identifying the appropriate patient profile suitable for alemtuzumab’s therapeutic benefits. Age, disease activity and severity, disability status, physician experience, and economic condition are some of the key indicators for alemtuzumab use.
UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorders that are characterized by the accumulation of glucosylceramide within the lysosomes of cells that are ordinarily degraded to glucose and lipid components. The primary objective of this study is to determine the prevalence of Gaucher Disease in a high-risk group (defined as patients with splenomegaly and/or thrombocytopenia of unknown cause). Methods: The present multicenter, cross-sectional, study will include patients presenting with signs of splenomegaly and/or thrombocytopenia over a period of 12 months with no definitive cause. Eligible patients will be assessed for acid β-glucosidase and acid sphingomyelinase enzymes activity using dried blood spot (DBS) samples. A total of 400 patients from Saudi Arabia who fulfill the eligibility criteria will be enrolled in the study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 million. Despite healthcare being free to Saudi citizens, a number of potential barriers to healthcare access and individual healthcare-seeking have been reported. While Gaucher disease is a rare disease, its incidence in Saudi Arabia appears to be higher than other parts of the world. Nevertheless, no previous nationwide study was conducted to provide reliable data regarding the incidence and characteristics of Saudi patients with Gaucher Disease. There is a scarcity in the published literature regarding the treatment patterns and outcomes of Gaucher Disease in Saudi Arabia as well.
Pompe disease is a multisystemic metabolic rare disease caused by the deficiency of the lysosomal enzyme acid-α-glucosidase (GAA) leading to progressive muscle weakness, organomegaly, respiratory failure, and ultimately death. The inotropic c.-32-13T > G mutation is a commonly reported mutation among cases with late-onset Pompe disease and presents in 40%-90% of the cases, with predominance among Caucasian Populations. In addition, c.1856G > A missense mutation effectively reduces GAA activity and is associated with an intermediate disease course. To date, the mechanisms by which the c.-32-13T > G mutation affects GAA mRNA splicing and c.1856G > A affects GAA activity are not fully known. Therefore, this manuscript reviews the current literature describing the frequency of c.-32-13T > G and c.1856G > A variation in Pompe disease patients and the mechanisms underlying these variations.
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