2024 Million Dollar Bike Ride Research Grant Awarded
The Glut1 Deficiency Foundation is thrilled to share that Dr. Paul Thornton has been selected by the Penn Medicine Orphan Disease Center to receive the 2024 Million Dollar Bike Ride grant for Team Glut1. We’re very thankful to have this incredible, world-renowned endocrinologist interested in Glut1 Deficiency and helping our patient community!
This study will be in the form of a clinical trial – one of two the G1DF will be funding this year for potential new treatments (more details to come).
Project Summary:
We propose to study currently available Diazoxide and a novel drug, Diazoxide Choline which is a more palatable tablet formulation, to see if we can elevate the plasma glucose safely and effectively in children and adults with Glut 1 Deficiency Syndrome. We aim to 1) determine if Diazoxide and Diazoxide Choline increase plasma glucose levels measured by continuous glucose monitoring; 2) compare effects of equivalent doses of Diazoxide and Diazoxide Choline on CGM measured glucose; and 3) evaluate safety and tolerability of both forms of Diazoxide.
When he’s ready, we’ll have Dr. Thornton join us for a virtual Glut1 Gathering to share more details and answer questions about his plans. He’s a leading expert in the rare disease congenital hyperinsulinism, where the pancreas makes too much insulin and blood glucose (and therefore brain glucose) stays too low. Diazoxide is one of the standard of care treatments for that disease, so he has a great deal of experience in using it.
The patient advocacy organization, Congenital Hyperinsulinism International, was a fellow Chan Zuckerberg Initiative (CZI) Rare As One Network grantee with the G1DF for cycle 1 in 2020-2023, so there have been valuable opportunities and support to build cross-disease collaborations to help drive research progress.
Diazoxide has been used in some individual Glut1 Deficiency patients and case reports and patient experiences from the Shelsta family have been shared at our 2022 conference in San Diego. Dr. Darryl De Vivo, Dr. Ellen Connor, and Dr. Santhi Logel have shared more in their case report publication. We were delighted to have Dr. Thornton join us as a speaker at the Glut1 Deficiency Summit in Dallas in July of last year to build on some of the learnings and form collaborations that have helped lead to this new project.
We’re so grateful for all the people who have contributed to the groundwork, and we give special thanks and recognition to the Meisner family for leading Team Glut1 in the Million Dollar Bike Ride and to all of our donors, CZI, and the Orphan Disease Center for making this possible!
We’re also very thankful for all the researchers who submitted proposals to the Orphan Disease Center for this Team Glut1 grant – a record 10 applications this year. With your help, we hope to support even more of these projects directly in the year ahead.
