Lysosomes are membrane-surrounded organelles which contain 50 different enzymes capable of breaking down biological polymers such as proteins, lipids, nucleic acids, and carbohydrates. If a person suffers from deficiency of any type of enzymes, the body cannot hydrolase the biological polymers. These unbroken large biological molecules (such as lipids, protein) amass in the lysosome, deviating from the normal cell function and causing lysosomal storage diseases (LSDs). Each LSD is caused from different gene mutations; however, those disorders share one biochemical property: accumulation of substrates within lysosomes. These substrates can accumulate around the vital organs such as liver, spleen, lungs, bones, and brains.
Presently, 40 different types of LSDs have been ascertained and the number is increasing. Common LSDs are Gaucher disease, Fabry disease, Hunter syndrome, Pompe disease (gyclogen storage disease II) and Wolman disease. Several clinical studies have documented that each type of LSD is rare, However, LSDs as a group show a global prevalence of 0.015% among newborns. The global LSDs diagnosis market is driven by factors such as increase in genetically abnormal population, awareness about LSDs and its harmful effect, diagnosis rate, and medical reimbursement. However, the market is likely to face several challenges such as different regulatory scenarios such as FDA, MHRA, and CDSCO, diagnostic cost, and diagnosis rate in rural areas.
Diagnosis of LSDs is based on symptoms and laboratory tests. A primary laboratory test includes checking the activity of enzymes. Additionally, a second type of laboratory test is carried out which involves DNA analysis. DNA analysis is suggested when a patient has a family history of LSDs. Prenatal testing is performed when an unborn baby has a family history of LSDs. However, diagnosis of aminocentesis (fluid which surrounds the unborn baby) or investigation of tissue sample from the placenta is included in prenatal testing to rule out whether the unborn baby has the chance of LSDs. However, bone marrow or liver biopsy tests are performed rarely.
Currently, ultrasound fetal analysis and maternal serum analysis are considered to be non-invasive diagnostic options for LSD screening of unborn babies. In terms of type of diagnosis, the global LSDs diagnosis market can be segmented into LSD diagnosis for adults and prenatal LSD diagnosis. LSD diagnosis for adults can be further categorized into enzyme testing, DNA analysis, imaging tests, and others. Prenatal LSDs diagnosis can be classified into aminocentesis testing, chorionic villus sampling testing, ultrasound fetal sampling, maternal serum analysis, and others.
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LSDs are divided into five groups: abnormalities in glycan degradation, abnormalities in lipid degradation, abnormalities from protein degradation, abnormalities in lysosomal transporters, and abnormalities in lysosomal trafficking. Therefore, the global LSDs diagnosis market can be segmented into five applications: glycan degradation, lipid degradation, protein degradation, lysosomal transporters, and lysosomal trafficking. Diagnosis of LSDs can be performed in hospitals, independent clinics, fertility clinics, and others (academic institutes and home based tests). In terms of device, the global LSDs diagnosis market can be categorized into instruments, reagents, catheters, and associated products.
Geographically, the global LSDs diagnosis market can be classified into five regions: North America, Europe, Asia Pacific, Middle East & Africa, and Latin America. North America is the leading market for LSDs diagnosis owing to higher prevalence of LSDs (1 in 40,000 to 60,000 in the U.S.), high awareness, and high diagnosis rate. Europe is the second largest market due to inhabitance of Askenazi Jewish population and high diagnosis rate. Several clinical studies have proved that the prevalence of LSD is low in the Indian subcontinent. However, the prevalence of Fabry disease, Gaucher disease, Pompe disease, and Tay-Saches disease is estimated at 11.7%, 5.7%, 14.6%, 20.6%, respectively, in Australia. Low prevalence of LSDs, low public awareness, and diagnosis rate make Asia Pacific the third largest market.
Key players in the global LSDs diagnosis market are Thermo Fisher, Sigma-Aldrich, DSS Image, Creative Biolabs, Siemens Healthineers, Phillips, Cook Medical, and Applied Spectral Imaging, Ltd., among others.