Mum-of-one Toni said: "What Pompe disease
means for Caelan that he won't get to grow up to be an adult.
(glycogen storage disease Type II, acid maltase deficiency, and OMIM #232300) is a rare, progressive, autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA).
NASDAQ: BOLD) has selected an optimized clinical development candidate for its Pompe disease
program, a serious, progressive genetic disease characterized by severe muscle weakness, respiratory failure leading to ventilator dependence and, in infants, increased cardiac mass and heart failure, the company said.
Biotechnology company Audentes Therapeutics Inc (Nasdaq:BOLD) stated on Tuesday that the data supporting the selection of optimized clinical development candidate were presented at the 14th Annual WORLDSymposium 2018 in Poster #123, titled: "A Novel Hybrid Promoter Directing AAV-mediated Expression of Acid Alpha-Glucosidase to Liver, Muscle and CNS Yields Optimized Outcomes in a Mouse Model of Pompe Disease
Pipeline Products for Pompe Disease
- Comparative Analysis 11
Then came the diagnosis of Pompe disease
and the beginning of his treatments, infusions with an enzyme his body was failing to make.
is a progressive, debilitating and often fatal neuromuscular disease caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA) affecting an estimated 50,000 people worldwide.
Global Markets Direct's, 'Pompe Disease
- Pipeline Review, H1 2016', provides an overview of the Pompe Disease
OUR AUCKLAND University of Technology (AUT) research team is embarking on a national study to find out how many people are affected by genetic muscle disorders, including the muscular dystrophies, congenital myopathy, myotonia congenital, paramyotonia congenita, central core disease, Pompe disease
, nemaline, myotubular and GNE myopathies, and periodic paralysis.
DISCUSSION: Pompe disease
, also known as glycogen storage disease type II, is an inherited disorder whose primary symptom is progressive weakness in the muscles used for mobility and breathing.
Olivia and Orin Arthur suffer from devastating Pompe disease
and need gruelling treatment to keep them alive.
The new product candidate, designated AT003, expands Audentes' portfolio of investigational AAV gene therapy treatments for rare diseases with significant unmet medical needs, which also includes AT001 for X-Linked Myotubular Myopathy (XLMTM) and AT002 for Pompe Disease