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Orphan genetic diseases afflict a minimal number of people. Relatively rare, they still do affect millions of people, collectively contributing to Global disease burden. Studies conducted estimates that there are as many as 7,000 diseases that are designated as rare, and one out of 15 persons worldwide are estimated to be affected by a rare disease constituting 400 million people worldwide.


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A rare condition with a slight Middle Eastern link – Acid sphingomyelinase deficiency ASMD Orphan genetic diseases afflict a minimal number of people. Relatively rare they still do affect millions of people collectively contributing to Global disease burden. Studies conducted estimates that there are as many as 7000 diseases that are designated as rare and one out of 15 persons worldwide are estimated to be affected by a rare disease constituting 400 million people worldwide. A limited patient cohort is a considerable challenge posed in studying rare diseases. Moreover commercial viability is another setback that rare disease treatment landscape is facing. A significant health burden is associated with Lysosomal storage disorders LSDs which are rare metabolic disorders especially in developing countries. They are an outcome of an unusual stowing of undigested proteins cellular masses fats sugars and nucleic acids within the cell. South-East Asia and Middle East Asia are two main regions where these disorders are quite prevalent despite being highly underdiagnosed. Niemann-Pick disease also known by the moniker Acid sphingomyelinase deficiency ASMD is one of a group of lysosomal storage disorders.

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Niemann-Pick disease a rare progressive autosomal-recessive genetic disorder which is often fatal is caused by mutations in specific genes SMPD1 that controls the body’s ability to metabolize fat within cells. Occurring at any age it mainly affects children and until today has no cure. The major signs and symptoms of the disease include clumsiness difficulty in walking excessive muscle contractions dystonia or eye movements sleep disturbances difficulty in swallowing or eating and recurrent pneumonia. Over the course of this disease several other comorbidities become associated some being severe causing death in both pediatric and adult patients. Reliable estimates of ASMD incidence worldwide are currently missing. Around 1 in 5000 to 10000 people is the current estimated worldwide incidence of NPD A disease. As per DelveInsight’s analytical report titled “Acid Sphingomyelinase Deficiency ASMD – Market Insights Epidemiology and Market Forecast-2028 – Emerging Markets” total prevalent population of ASMD in key Emerging Markets range from 8799 in 2017 to 9500 in 2028 with a CAGR of 0.70. However emerging markets have been facing hindrances when it comes to rare disease epidemiology and research. Despite such hindrances estimates for Saudi Arabia and UAE were calculated by DelveInsight’s Forecast experts through KOL opinion assessment. In the report mentioned above total prevalent cases calculated for Acid sphingomyelinase deficiency in Saudi Arabia are estimated to reach 148 by the year 2028. Similarly as per DelveInsight’s analysts’ the total prevalent cases in UAE are expected to reach 43 by the year 2028. Additionally out of the different types of the disease one particular type- severe early infantile neurologic onset form- seems to be more frequent in Southern Europe where it constitutes 20 of the cases and also the Middle East. Other countries have almost negligible prevalence data for this disease. However assessment of patient demographics at other regions of the world shows more significant links between the Middle East and ASMD. As per the patient assessment conducted in Mount Sinai Hospital in the USA a researcher remarked “A significant number also were from Africa and the Middle East suggesting that ASM deficiency may be more common in these regions than previously thought. In fact more than 40 of the NPD patients referred to Mount Sinai from Europe were of North African or Arab ancestry. A

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significant number also were Turkish. Asia had the fewest number of reported NPD cases.” This remark suggests that more research into ASMD deficiency in the Middle East will prove beneficial in uncovering non-diagnosed patients and thus help them in receiving appropriate treatment. Moving on to the treatment landscape of ASMD as per DelveInsight’s analysis currently there are no approved treatment options available for ASMD. The current management is targeted more towards managing the symptoms rather than working on curing the disease completely. Symptomatic treatment and lifestyle modifications have become the mainstay designed to reduce morbidity and disease complications along with working to improve patients’ quality of life. Still there lies high hope in the drug development arena where companies are working to provide a viable treatment to the market. One such company is Sanofi Genzyme invested in developing olipudase alfa GZ402665 for the type B variant of the disease. As per the latest update both the Phase 2/3 clinical trial in adults ASCEND and the Phase 1/2 clinical trial in children ASCEND-Peds have successfully completed enrollment for the targeted number of patients for each of these trials. Genzyme expects to submit an NDA for the same by 2020. The drug is not being developed for the type A form of ASMD in which sphingomyelin accumulation takes place mainly in the central nervous system. The FDA has granted a breakthrough therapy designation to olipudase alfa conveying hope for a promising future. However treatments such as this will be launched later in the emerging markets as the priority of many healthcare companies is always the major markets of the world. Still these companies are speeding up their processes to enter the emerging markets as well and a more uniform regulatory procedure in these countries can quicken the commercialization process helping to ease the burden of unmet need in the region. Duphat - Source: DelveInsight –

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