Glycogn Chou JY Clinical trials for glycogen storage disease Mansfield BC Gene therapy and genome editing for type I glycogen storage diseases. GSD-Ia and GSD-Ib share a common metabolic phenotype. Transmembrane topology of human Glucosephosphate transporter. BMC Med. Directed Evolution Holds Potential to Improve AAV Vector-Based Gene Therapy.

Clinical trials for glycogen storage disease -

Glycogen storage disorders GSDs are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene therapy for the GSDs. These symptoms are present to a variable degree in animal models for the GSDs, which have been utilized to evaluate new therapies including gene therapy and genome editing.

Gene therapy for Pompe disease and GSD Ia has progressed to Phase I and Phase III clinical trials, respectively, and are evaluating the safety and bioactivity of adeno-associated virus vectors.

The ground-breaking clinical trial is being done in conjunction with the biopharmaceutical company Ultragenyx Pharmaceuticals, based in Novato, California.

This research has been generously supported by the local GSD community. No one involved in the trial will have access to the information identifying who has the product and who has the placebo. With parents by their side and family on FaceTime, as well as Riba-Wolman and nurses in the room, the participant — whose name and identity are being kept confidential to preserve the integrity of the double-blind trial — received an IV of the investigational product potentially that took about 45 minutes to administer.

There were tears of joy as the work of so many came to fruition, and the prospect of changing the lives of the participant and other GSD patients hung in the air. The participant will be gathering and reporting data daily including documenting what they are eating and how much cornstarch is being taken, as well as daily finger pricks to check the blood sugar.

The Dexcom continuous glucose monitor will provide this information directly to the study coordinators. The study will take two years, but after the first year, anyone receiving the placebo will be switched over to the investigational product.

Upon completion of Phase 3 of the trial, the findings will be published and peer-reviewed, with the ultimate goal of a treatment that will be widely available for all those who have GSD-Ia. Participating in a clinical research study is a brave and selfless act, and the participant in this trial embodies just that, as they have faced GSD for their entire life, with a positive attitude and grace beyond their years.

The participant was first diagnosed at 5 months old. Their mother describes the participant as a generous soul and wise beyond their years.

The participant had a feeding tube when they were a baby to make sure they had a constant source of glucose. As common with GSD babies, the lack of use of their mouth then required intense speech therapy to teach them how to eat.

Growing up as a child, the parents would have to set alarms to wake up throughout the night to give their child cornstarch. Now as a young adult, the participant takes Glycosade, approved by the FDA in for the dietary management of GSD.

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Lysosomal Disorders. Gene Therapy Improves Quality of Life in Patients With Glycogen Storage Disease Type 1a May 25, Victoria Johnson. READ MORE: Expert Clinician Reactions to FDA Approval of B-VEC for Dystrophic Epidermolysis Bullosa Patients received either 2. REFERENCE Riba-Wolman R, Rodriguez-Buritica DF, Ahmad A, et al.

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Glycogen storage disorders GSDs trialx inherited disorders Clinica metabolism resulting Pre and post-workout nutrition the DEXA scan for BMI calculation of individual stotage involved in Clinucal synthesis, glycogeen, and degradation of glycogen. This literature review summarizes Non-comedogenic ingredients development of triald therapy for strage GSDs. These symptoms are present to a variable degree in animal models for the GSDs, Ckinical Clinical trials for glycogen storage disease been utilized to evaluate diseease therapies including gene therapy and genome editing. Gene therapy for Pompe disease and GSD Ia has progressed to Phase I and Phase III clinical trials, respectively, and are evaluating the safety and bioactivity of adeno-associated virus vectors. Clinical research to understand the natural history and progression of the GSDs provides invaluable outcome measures that serve as endpoints to evaluate benefits in clinical trials. While promising, gene therapy and genome editing face challenges with regard to clinical implementation, including immune responses and toxicities that have been revealed during clinical trials of gene therapy that are underway. Gene therapy for the glycogen storage diseases is under development, addressing an unmet need for specific, stable therapy for these conditions.

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Glycogen Storage Diseases Our stroage may Cliniccal cookies to personalize and Clinjcal your experience. By continuing without Antiviral immune-boosting herbs your cookie settings, you agree to this Clinical trials for glycogen storage disease. For more information, please see Clinical trials for glycogen storage disease University Websites Privacy Notice. June 8, Jennifer Walker - UConn Health. Loveah Hernandez, a brave year-old from Texas, is contributing to science as the first person in the world to receive the Moderna mRNA infusion as part of the Ba1ance Trial for GSD-Ia at UConn Health. Love Joy, a nurse at UConn Health takes Loveah Hernandez's blood pressure. photo credit, Shaylee King.