Science company Pfizer Inc (NYSE:PFE) and Protalix BioTherapeutics Inc (NYSE MKT:PLX) jointly reported on Monday the receipt of regulatory approval for UPLYSO (alfataliglicerase) for the long-term enzyme replacement therapy for adults with a confirmed diagnosis of Type I Gaucher disease, a rare lysosomal storage disorder
that affects 10,000 people worldwide.
Daly demonstrated that a single treatment at birth could completely prevent the development of clinical disease in a murine model of mucopolysaccharidosis type VII, a lysosomal storage disorder
Sialic acid storage disease (SASD) is a rare autosomal recessive lysosomal storage disorder
characterized by excessive urinary excretion of free sialic acid and an accumulation of free sialic acid in skin fibroblasts (1).
Gaucher disease is an inherited lysosomal storage disorder
in humans and can cause severe and debilitating symptoms, including enlargement of the liver and spleen, various forms of bone disease, easy bruising and anemia.
Biopharmaceuticals company BioMarin Pharmaceutical Inc (Nasdaq:BMRN) reported on Thursday the completion of the enrollment for its pivotal Phase 3 trial of GALNS for lysosomal storage disorder
Mucopolysaccharidosis Type IVA.
 Nonstandard abbreviations: LSD, lysosomal storage disorder
; LAMP, lysosome-associated membrane protein; MLD, metachromatic leukodystrophy; and MPS, mucopolysaccharidosis.
Biopharmaceutical company Amicus Therapeutics (Nasdaq:FOLD) and GlaxoSmithKline (GSK) revealed jointly on Monday the dosing of the first patient in a Phase 3 global registration study of Amigal and enzyme replacement therapy for the treatment of Fabry disease, a rare inherited lysosomal storage disorder
 Nonstandard abbreviafions: LSD, lysosomal storage disorder
; LAMP, lysosome-associated membrane protein; and MOM, mulfiples of median.
"The brains of people who have lysosomal storage disorder
, another well-studied disease, and the brains of people who have Alzheimer's disease are similar in terms of lysosomal storage," Julian said.
Nephropathic cystinosis is a rare, life-threatening metabolic lysosomal storage disorder
that causes toxic accumulation of cystine in all cells, tissues, and organs in the body.
MPS-I is a progressive, debilitating and often life-threatening inherited lysosomal storage disorder
. Patients often experience neurocognitive impairment, skeletal deformity, loss of vision and hearing, and cardiovascular and pulmonary complications, with the most severe form known as Hurler syndrome.
Biologics technology company WuXi Biologics (Stock code:2269.HK) reported on Wednesday the receipt of the US FDA's breakthrough therapy designation for AT-GAA (ATB200/AT2221) in late onset Pompe disease, an inherited lysosomal storage disorder
caused by the deficiency of an enzyme known as acid alpha-glucosidase (GAA).