MPS IIIA is a profound and deadly lysosomal
storage disease with no approved treatments available.
The company is focused on the development of its gene therapy candidate, AVR-RD-01, in Fabry disease, as well as additional gene therapy programmes in other lysosomal
storage disorders including Gaucher disease, cystinosis and Pompe disease.
1 Various mechanisms including; defects in lysosomal
exocytosis, reduced lysosomal
catabolic efficacy, defects in lysosomal
transport machinery, impairment in lysosomal
metabolite efflux or dysfunction of lysosomal
integral membrane proteins can result in multi systemic involvement.
Newborn screening for lysosomal
storage diseases (LSDs) has gained interest worldwide with the increasing availability of effective treatment options and accessible screening methods.
Senior pediatricians talking to reporter said this was extremely important as there is a sizable number of children in the country suffering from Lysosomal
Storage Disorders (LSD), a genetic disorder that severely compromises normal cellular among affected kids.
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA| GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal
storage found in dried blood samples collected from the prick of a newborn's heel 24 to 48 hours after birth.
In conjunction, the company said it intends to launch the first in vivo genome editing clinical trials in 2017, including Phase 1/2 studies for three lead programmes: SB-318 for the treatment of MPS I, SB-913 for the treatment of MPS II, another rare lysosomal
storage disorder and SB-FIX for the treatment of hemophilia B, a rare blood disease.
Therapeutics is a specialist in the field of neurodegeneration, yielding new treatment options for patients with severe neurological diseases.
ferritin and mitochondrial components), lysosomal
compartments can accumulate large amounts of low mass redox-active iron and, therefore, enhance susceptibility to oxidative stress [6, 7].
KARACHI -- Taking exception to the trend of consanguineous marriages in local communities, experts have said that it has led to series of rare metabolic diseases among the children, including that of Lysosomal
Storage Disorders (LSDs).
storage diseases (LSDs) (4) are a collection of at least 50 inborn errors of metabolism resulting from a deficiency in the function of lysosomal
enzymes and transporters (1).
permeabilization was visualized using Acridine Orange and lysosomal
protease cathepsin b expression was determined using Western blot.
KD results from the deficiency of the lysosomal
enzyme galactocerebrosidase (GALC).
Cathepsin(s) were purified from spleen in 1940, and their lysosomal
association was established in 1955 [3,4].
The researchers' hypothesis was that these changes in the brain's lysosomal
network could be reflected in the spinal fluid, which surrounds the brain's various parts and drains down into the spinal column.