Orphan Disease Center 2022 Million Dollar Bike Ride Grant Awards Announced
The Orphan Disease Center has announced the 2022 Million Dollar Bike Ride research grant recipients! Two $87,125 grants were awarded to STXBP1 research projects. Thanks to Lulu’s Crew Team STXBP1!
Grant Awardee: Sarah Weckhuysen, MD, PhD at VIB-CMN, University of Antwerp
Project Title: Assessing and quantifying gait problems in patients with STXBP1-related disorders using three-dimensional gait analysis
Project Summary: While STXBP1-related disorders (STXBP-RD) were initially described as being associated with seizures and intellectual disability (ID), the phenotypic spectrum has since then considerably broadened. We now know it includes ID without seizures, behavioral problems such as autism, and a range of movement disorders with often prominent gait problems, which all significantly impact quality of life of both the patients and their caregivers. To date, treatment of STXBP1-RD is largely limited to seizure control and there is a lack of guidelines for multidisciplinary revalidation, including motor revalidation. In this project, we aim to combine our expertise with STXBP1-RD with the available expertise in our university with gait analysis in other neurodevelopmental syndromes such as Dravet syndrome, to characterize the nature and evolution of gait abnormalities and functional mobility in patients with in STXBP-RD. We will do this in a semi-quantitative way using three-dimensional gait analysis in a cohort of 30 children and adults with STXBP-RD. We intend to use the information obtained to develop guidelines for motor revalidation for individuals with STXBP1-RD. Furthermore, the data conducted in this study will contribute to the identification of non-seizure related clinical endpoints related to motor function, a crucial step to ensure successful clinical trials in the future.
For more information on Dr. Weckhuysen’s lab’s work, see her research group’s website.
Grant Awardee: Pasquale Striano, MD, PhD at University of Genoa
Project Title: Fingerprinting a multiomics biomarker profile in patients with STXBP1-RD
Project Summary: Mutations in STXBP1 gene lead to a complex and severe neurodevelopmental disorder (STXBP1-related disorders, -RD), with symptoms including intellectual disability, epilepsy, movement and behavioral disorders, and gastrointestinal (GI) symptoms. There is no cure to date, but targeted therapies for STXBP1 are under investigation. However, the variability of symptoms and severity of STXBP1-RD makes it challenging to evaluate the effect of a treatment during a clinical trial, so that we need to identify biomarkers of the disease that can be measured. We will explore these biomarkers in the metabolome and gut microbiome of patients with STXBP1-RD. Gut microbiome is the pool of microorganisms that live in our gut and constantly interacts with our organism, including with our brain (gut-brain axis). Bacteria produce a lot of substances that join our metabolome, which is the whole pool of substances present in our blood and produced or introduced in our organism. Alterations in microbiome and metabolome can be identified in many health conditions, including autism and epilepsy. We aim to identify specific alterations in the microbiome and metabolome profiles of patients with STXBP1-RD, that can be further investigated as biomarkers and as therapeutic targets.
For more information on Dr. Striano’s work, see this webpage.
Read more on the Orphan Disease Center 2022 Million Dollar Bike Fund Raiser recipients here.