A fatal lysosomal
storage disease of the nervous system caused by autosomal-recessive mutations in the CLN1 gene, also known as infantile neuronal ceroid lipofuscinosis, CLN1 disease is an inherited genetic disease that primarily affects the nervous system in newborns and progresses rapidly.
a leading clinical-stage biopharmaceutical company focused on developing novel cell and gene therapies for life-threatening rare genetic diseases, today announced updated clinical data from the ongoing Phase 1/2 trial for ABO-102 (AAV-SGSH), the companys investigational gene therapy for the treatment of Sanfilippo syndrome Type A (MPS IIIA), a rare autosomal-recessive lysosomal
Proceeds from the financing will be used to advance multiple gene therapies from Avrobio's proprietary lentiviral platform, including the company's lead gene therapy, AVR-RD-01, currently in Phase 1 for Fabry disease, as well as three additional gene therapies for other lysosomal
storage disorders, Gaucher disease, cystinosis and Pompe disease.
storage diseases are a group of rare, inherited metabolic diseases affecting about 1 in 7000 to 8000 people.
SEEKER quantitatively measures the activity of lysosomal
enzymes from newborn dried blood spot specimens.
KARACHI -- Pakistan is in need of a policy to prevent and manage Lysosomal
Storage Disorders coupled with provision for special funds to treat patients comprising children below one.
for the screening of four rare Lysosomal
Storage Disorders (LSDs) in newborns.
MPS I, which is a rare lysosomal
storage disorder, is reportedly caused by mutations in the gene encoding the alpha-L-iduronidase (IDUA) enzyme.
11 January 2017 - Irish drugmaker Allergan plc (NYSE: AGN) has purchased an exclusive option right to acquire US-based small-molecule research and development firm Lysosomal
PESHAWAR -- Department of Pediatric MTI Khyber Teaching Hospital, Peshawar has arranged a Seminar on the Topic of Genomic Aspects of Mucopolysaccridoses Lysosomal
Storage Disorder in Conference Room MTI KTH here on Friday.
The 17 chapters explore simple and complex carbohydrates and glycoconjugates; methods of structural analysis of glycosaminoglycans, applications of these methods for identification of lysosomal
storage diseases, and participation in the development of Lyme disease; the role of viral envelope protein glycosylation in the pathogenesis of influenza A virus; the application of lectin histochemistry in the diagnosis of lysosomal
storage diseases; computational approaches for studying carbohydrate-lectin interactions in infection; the pathogenic effects of altered sialylation of specific glycoconjugates in genetic diseases; sialyltransferase regulation of cancer-associated O-glycans; and the history of pectin study, chemistry, and medicinal uses of pectin.
USPRwire, Mon Jan 25 2016] GlobalData's clinical trial report, "Lysosomal
Storage Disorder Global Clinical Trials Review, H2, 2015" provides an overview of Lysosomal
Storage Disorder clinical trials scenario.