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Acid Sphingomyelinase Deficiency Market Report gives readers a thorough assessment of key market drivers, restraints, prospects, opportunities, restraints, current trends, and technological and industrial breakthroughs that will influence market growth. The detailed market research, industry sector growth and development, and new product introductions covered in this report on the Acid Sphingomyelinase Deficiency Market are of great assistance to the important new commercial players joining the market.
Key highlights of the Acid Sphingomyelinase Deficiency Market Report
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Acid Sphingomyelinase Deficiency Overview
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder, caused by the mutations in the SMPD1 gene and is inherited in an autosomal recessive manner. Any mutation in the gene, leads to the production of a faulty protein and deficiency of the enzyme acidsphingomyelinase, required to break down a fatty substance called sphingomyelin. Consequently, sphingomyelin and other substances accumulate in various tissues of the body and can affect many organ of the system including brain, liver, spleen, lung etc.
Acid Sphingomyelinase Deficiency Epidemiology Insights
ASMD has traditionally been broken down into two subgroups – neuronopathic (type A) and non-neuronopathic (type B). Neuronopathic refers to disorders that damage brain cells (neurons). Type A generally causes severe neurodegenerative disease during infancy, while type B is generally not considered to be a neurologic disease. However, since cases fall in between these two extremes, an intermediate form, type A/B can also be seen. The main cause of ASMD is mutation in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. Genes provide instructions for creating proteins that play a critical role in many body functions. When a gene mutation occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.
Acid Sphingomyelinase Deficiency Epidemiology Segmentation in the 7MM
Acid Sphingomyelinase Deficiency Treatment Market
There is a tremendous lack of effective supportive therapies (especially for the infantile cases), let alone curative ones with the severe infantile neurovisceral phenotype encountering death by 3 years of age. Although the other less severe forms have a normal lifespan but a certain section die prematurely due to respiratory insufficiency and liver disease. Statins form the mainstay of treatment regimen that is used to treat hyperlipidemia characterized by low-high-density lipoprotein (HDL) cholesterol in NPD Type B adult cases.
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Acid Sphingomyelinase Deficiency Market Insights
NPD B and A/B is associated with a substantial burden for many patients, caused by the profoundly negative impact of its clinical manifestations on physical, mental and psychosocial well-being. However, published data regarding the impact of the disease on QoL and daily functioning are limited, mainly owing to the rarity and heterogeneity of the disease and the lack of adequate disease-specific instruments to measure QoL. Given the wide spectrum of NPD B phenotypes, including intermediate forms characterized by mild to severe neurologic defects in addition to visceral, skeletal and hematologic ASMD manifestations, a refinement of the ASMD classification system is needed. A more precise description of ASMD subpopulations may improve disease recognition at initial presentation and thus lead to more timely diagnoses.
Acid Sphingomyelinase Deficiency Emerging Therapies
Acid Sphingomyelinase Deficiency Market Drivers
Acid Sphingomyelinase Deficiency Market Barriers
To know about more new drugs for Acid Sphingomyelinase Deficiency treatment visit @ Acid Sphingomyelinase Deficiency Market Forecast
Table of Content
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