ALLMedicine™ Glycogen Storage Disease Center

Jan 21st, 2023 - Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far. Herein we report a 2 year old girl pres...

Jan 20th, 2023 - Only participants who received DTX401 in study 401GSDIA01 (NCT03517085) are eligible to participate in study 401GSDIA02. No investigational product will be administered during study 401GSDIA02.

Jan 4th, 2023 - Glycogen storage disease (GSD) is a glycogen metabolism disorder caused by congenital enzyme defects, with type I being the most common. Owing to the rarity of glycogen storage disease type Ia (GSD Ia) and the involvement of diverse systems, patie...

Dec 23rd, 2022 - New genome sequencing technologies with enhanced diagnostic efficiency have emerged. Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical...

Dec 21st, 2022 - Metabolic myopathies are disorders that affect skeletal muscle substrate oxidation. Although some drugs and hormones can affect metabolism in skeletal muscle, this review will focus on the genetic metabolic myopathies. Impairments in glycogenolysi...

Oct 31st, 2014 - Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal ...

Jul 16th, 2010 - Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degra...

Jan 20th, 2023 - Only participants who received DTX401 in study 401GSDIA01 (NCT03517085) are eligible to participate in study 401GSDIA02. No investigational product will be administered during study 401GSDIA02.

Dec 16th, 2022 - Study DTX401-CL301 is a phase 3, randomized, double-blind, placebo-controlled study to determine the efficacy and confirm the safety of DTX401 in patients 8 years and older with glycogen storage disease type Ia (GSDIa). Participants will be random...

Nov 25th, 2022 - This is a dose escalation study in adult participants with GSD1a to determine the safety and tolerability of mRNA-3745 and characterize the pharmacokinetic (PK) and pharmacodynamic (PD) response following IV administration of mRNA-3745.

Nov 18th, 2022 - Participants enrolled in the 401GSDIA01 study will be monitored for 52 weeks following DTX401 administration. Participants in Cohorts 1, 2, and 3 will receive reactive oral steroid treatment for possible vector-induced hepatitis following treatmen...

Nov 3rd, 2022 - The primary objective of this study is to evaluate the incidence of hypoglycemia in adult and pediatric participants with glycogen storage disease type III (GSD III).

Aug 6th, 2021 - Glycogen storage disease type II, also called Pompe disease, is a rare, progressive, genetic condition in which there is an accumulation of glycogen, a source of energy for the body, inside the lysosomes of cells. This occurs due to mutations in t...

Jul 24th, 2017 - Photo by Graham Colm Blood samples Quest Diagnostics has announced the US launch of QHerit™, a genetic screening service that helps people of multiple ethnicities identify their risk of passing on heritable disorders to their offspring. The QHerit.

May 22nd, 2014 - VANCOUVER, B. C.

May 22nd, 2014 - VANCOUVER, B. C.

May 22nd, 2014 - VANCOUVER, B. C.