Early Treatment With Galsulfase Appears to Slow Disease Progression in MPS VI
The aim of this multicenter, prospective analysis was to determine the long-term outcomes of treatment of MPS VI patients with galsulfase beginning in infancy.
WORLDSymposium 2021
Complete Coverage
Case Series Describes Hydroxychloroquine Use, Toxicity in Fabry Disease
A true diagnosis of Fabry disease may be delayed or the condition may be completely misdiagnosed, as it often masquerades as a rheumatological disease.
Clinical Benefits Observed With Investigational Gene Therapy for ES-EJ Metachromatic Leukodystrophy
Currently, there are no approved treatments for MLD, a lysosomal storage disease caused by a deficiency in arylsulfatase A.
Does Gaucher Disease Up SARS-CoV-2 Infection Risk?
Patients with Gaucher disease do not appear to be at increased risk for SARS-CoV-2 infection, according to findings presented at the 17th Annual WORLDSymposium.
Positive Results for IV Hydroxypropyl Beta Cyclodextrin in Niemann-Pick Disease Type
In preclinical studies, hydroxypropyl beta cyclodextrin has been shown to transport cholesterol from cells, normalizing cholesterol metabolism.
Enhanced Brain Connectivity Observed With Venglustat Plus Imiglucerase in GD3
GD3 is a chronic neuropathic form of Gaucher disease characterized by progressive encephalopathy.
Cardiac Efficacy Maintained With Long-Term Migalastat in Fabry Disease
The extension study included a total of 84 adult FD patients who completed the FACETS, ATTRACT, or AT1001-041 study.
Olipudase Alfa Improves Lung Function, Spleen Volume in ASMD
ASMD is a rare, debilitating lysosomal storage disease characterized by a deficiency of the enzyme acid sphingomyelinase, which results in the accumulation of sphingomyelin in various tissues of the body.
Patient With Gaucher Disease and ITP Effectively Treated With Eltrombopag
The patient, who was initially diagnosed with Gaucher disease type 1 during her first pregnancy 20 years prior, presented with bleeding, hematomas, and thrombocytopenia, in addition to hepatomegaly, splenomegaly, and bone marrow infiltration.
Arimoclomol Demonstrates Sustained Effect in Niemann-Pick Disease Type C
Arimoclomol is a small molecule designed to amplify and sustain the cellular production of heat shock proteins, particularly HSP70, which targets protein misfolding and improves lysosomal function.
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