Research

Summary

At CureGSD1b our primary goal is to help develop new therapies, treatment options, and eventually a cure for GSD1b. There are steps that we are taking as an organization that will help enable this, including the implementation of an online Patient Contact Registry, as well as the Rare-X Data Collection Program. We have a small patient population, but one that spans the globe. This is an easy way to make our data accessible to researchers across the globe. The more participation and more diversity the more useful this will be for us and for researchers. If you are a patient or caregiver, please register for both here.

If you are a researcher looking for access to our data, please reach out to Jamas LaFreniere at jamas@sophieshopefoundation.org

CureGSD1b is interested in supporting research directly related to GSD1b. This can be basic science to help us continue to expand our understanding of GSD1b and translational research to help take what we know about GSD1b and develop treatments and eventually a cure. Since 2022, cureGSD1b alliance members have awarded over $430,000 in funding. See some specific projects below.

Research Funding Awarded

Dissecting the Pathobiological Mechanisms of GSD1a and GSD1b to Improve Care for GSD1b Patients.
PI: Dr. Maaike Oosterveer
Institution: University Medical Center Groningen (Netherlands)
Grant Amount: €13,000
Date Started: 2022
Funded by: Sophie’s Hope Foundation

Retrospective Natural History Study of GSD1b.
PI: Dr. Priya Kishnani
Institution: Duke University (United States)
Grant Amount: $200,000
Date Started: 2022
Funded by: Sophie’s Hope Foundation ($150,000), Jonah Pournazarian ($50,000)

GSDValue Project: Creating a standard set of outcomes for liver GSD.
PI: Dr. Terry Derks
Institution: University Medical Center Groningen (Netherlands)
Grant Amount: €144,000
Date Started: 2023
Funded by: Sophie’s Hope Foundation (€72,000), Global Center for GSD (€72,000)

Evidence-based Best Practices in Empagliflozin Use in GSD1b
PI: Dr. Saskia Wortman, Dr. Sarah Grunert, Dr. Terry Derks
Institution: University Children‘s Hospital, Salzburg (Austria)
Grant Amount: €10,000
Date Started: 2023
Funded by: Sophie’s Hope Foundation

Development of GSD1B Mouse Model
PI: Dr. Nicola Brunetti-Pierri
Institution: Dept. of Translational Medicine, University of Naples “Federico II” (Italy)
Grant Amount: 0
Date Started: 2022
Funded by: Jackson Laboratories, who created the mouse model through a grant to Sophie’s Hope Foundation. 

The Nina Contreras D’Agosto Fund for GSD Type 1b Gene Therapy
PI: Dr. Youngmuk Lee
Institution: University of Connecticut, Global Center for GSD (United States)
Grant Amount: $107,671
Date: 2022
Funded by: Nina La Guerrera

Emphasis and Safety of empagliflozin in glycogen storage disease 1b:  data from an international questionnaire
PI: Dr. Terry Derks
Institution: University Medical Center Groningen (Netherlands)
Grant Amount: €4,456
Date: 2022
Funded by: Nina la Guerrera

GSD1b mRNA Therapy Research Fund
PI: Dr. Nicola Brunetti-Pierri
Institution: Fondazione Telethon
Grant Amount: €10,000
Date: 2022
Funded by: Nina La Guerrera

DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia
PI: Dr. Maria Vega De Cunha
Institution: de Duve Institute (Belgium)
Grant Amount: €5,887
Date: 2023
Funded by: Nina La Guerrera

Request a Research Grant

Please send an email to Jamas@sophieshopefoundation.org to present your idea and receive a copy of our grant request requirements and form. Please provide a summary explaining how your research would benefit the GSD1b community and what the expected outcomes and deliverables would be.

Types of Potential Therapy

mRNA Replacement Therapy

mRNA replacement therapy presents a great treatment opportunity for GSD1b and is an area of focus for CureGSD1b. We are currently working closely with Dr Brunetti-Pierri on the mouse study. For a basic explanation of how this therapy can work in rare disease, click here.

Gene Editing

Gene editing aims to be a one-time therapy that directly edits pieces of DNA within the cell. It’s considered a type of gene therapy, which is the use of genetic material to treat or prevent disease. Gene editing has great potential to cure rare genetic diseases like GSD1b. Learn more here about gene editing: click here.

Prime editing is a more specific form of gene therapy that uses enzymes to alter DNA. It is also considered a type of gene therapy. Prime editing is a versatile and precise genome editing method that directly writes new genetic information into DNA. For more information about the technology, click here.

Specific to GSD1b, Prime Medicine announced in October of 2023, the first-ever successful data in non-human primates of prime editing being used to correct one GSD1b mutation. Read Prime’s announcement here.

AAV Gene Therapy

Adeno-associated virus (AAV) is a non-enveloped virus that can be engineered to deliver DNA to target cells. These vectors introduce therapeutic genes into patient cells to treat diseases, especially genetic disorders. Learn the basics of vector-based therapies like AAV here.

GSD1b Session w/ FDA

On March 3rd, 2022 we had the honor of hosting a Patient-Led Listening Session with the United States Food and Drug Administration. These sessions are granted after application from a patient organization, which in this case was Sophie’s Hope Foundation and CureGSD1b. The intent of the session is for rare disease organizations to educate the FDA on the disease and challenges associated with it either as a patient or caregiver. Every office within the FDA was represented and the feedback regarding our session was very encouraging. Below you will find all the material from our session.

FDA Session Summary: Download PDF Here

GSD1b Presentation Slides for the FDA: Download PDF Here

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