Glycogen Storage Disease Type 1b Research Support Fund
Sophie's Hope Foundation
helping fund a cure for GSD1b
Sophie’s Hope Foundation’s primary goal is to inspire hope to Glycogen Storage Disease (GSD) patients and families by providing critical financial assistance to pioneer research for better treatment and to ultimately find a cure for GSD 1b. The foundation was started by Jamas and Margot LaFreniere after their daughter, Sophie, was diagnosed in September of 2019 at the age of 2 with GSD, which is an incredibly rare genetic disease that has no cure and is life threatening. The foundation is based on Hopkinton, MA and is a fully registered 501c3 charitable organization.
Thank you to everyone that contributed to and / or participated in the 2nd Annual Swings for Sophie Charity Golf Event on July 26th at New Seabury.
292 golfers and over $125K raised!
Check out the highlights!
If you prefer checks they can be made out to Sophie’s Hope Foundation mailed to 23 Briarcliff Dr, Hopkinton, MA 01748. Please see if your company has a matching program and reach out with any questions or data needed. Our Tax ID is 84-5014314
Please use this link for donations to take advantage of matching program.
Patient Worthy Podcast
Sophie’s Hope Foundation’s mission is to help find a cure for GSD 1b. We believe we can accomplish this by funding research and by coordinating the collaboration of patients, caregivers, doctors, researchers, and drug companies.
We are a group of passionate parents working to create a global organization to support GSD1b patients and caregivers. We also have the support of some amazing doctors and scientists
What is GSD and GSD1b
Glycogen Storage Disease (GSD) is an extremely rare genetic metabolic disease that occurs in 1/100,000 births. There are several different types of GSD, and Sophie’s type 1b (GSD1b) only occurs in 1/1,000,000 births. It is classified as a rare disease and we estimate about 500-800 people living with this disease. GSD is a disease in which the body is missing an enzyme to convert glycogen into glucose. A properly functioning liver converts glycogen into glucose to provide energy during periods of fasting. Due to this missing enzyme, people with GSD are constantly at risk of hypoglycemia (low blood sugar), and if not maintained on a very strict diet and scheduled doses of corn starch feedings, they are at risk of seizures, coma, and potentially death. GSD1b has some added challenges with the greatest being neutropenia, which is a low white blood cell count. This complication impacts the body’s ability to fight off infection and makes GSD1b patients more susceptible to infections. Simple things like mouth sores, ailments which most people fight off quickly without any problems, can turn into major problems. People with GSD1b are also more prone to irritable bowel diseases, often presenting like Crohn’s Disease. For children with GSD1b, a simple illness or infection often leads to Emergency Room visits and/or a hospitalization.
Sophie requires cornstarch every 4 hours throughout the day and overnight. Cornstarch is a long-lasting complex carbohydrate that was discovered as a treatment for GSD in 1982. Prior to this discovery, GSD was almost always fatal. Sophie’s body relies on these cornstarch feedings to function, due to cornstarch’s slow release of carbohydrates and glucose. The scary reality is that my wife and I are one missed or faulty alarm away from a possible disaster. We (and all other parents of GSD kids) live by the clock. Prior to each cornstarch dose and sometimes more frequently, we test her blood sugar level by a fingerstick. A proper GSD diet requires frequent meals or snacks with no sugar, low carbs, and high protein. As you can imagine, balancing this strict diet and cornstarch regiment can be incredibly challenging, especially for children, which is why many children with GSD require feeding tubes to make sure their bodies are getting the proper corn starch and nutrients. The current treatment for neutropenia in GSD1b is a daily injection of the drug filgrastim (a neutrophil growth factor). For Sophie, administering the drug requires a daily injection. Sophie’s other daily supplements also include Calcium, Vitamin E, and a multi-vitamin to help supplement her diet.
Although there is currently no cure or gene therapy treatment for GSD1b, we have very good reason to believe a cure is within reach! Science and technology are moving at such a rapid pace and most of the initial research to understand GSD1b and how to treat or fix it have been completed. We are fortunate to be based in the Boston area, in such proximity to the biotech capital of the world and some of the most brilliant minds, amazing universities and health systems. A first step in developing a cure is to get organized and understand the patient population. One of our goals for 2021 will be to set up a patient registry to get a better understanding of our patients and work towards the completion of a natural history study. A patient registry is the best and most efficient way to make sure everyone is receiving the best care, but also that people are aware of new drugs or clinical trials for better treatment or a cure.
Gene Therapy is considered a long-term treatment, but not a cure. It is life changing for people living with genetic diseases, especially GSD, but there are questions regarding both the durability of the therapeutic effect as well as the ability to administer additional doses over time. A drug to treat GSD type 1a (GSD1a) is entering phase 3 clinical trials with UltraGenyx. Results using this technology have been incredibly promising, with most patients being able to stop cornstarch treatments and stop living in fear of hypoglycemia. GSD Type III is also entering Phase 1 of clinical trials using an mRNA treatment, which is great, but does not appear like a viable option for GSD1b. For GSD1b there is currently a gene therapy vector that corrects liver function (hypoglycemia), but the vector has not proven to treat the neutropenia. This vector is currently with the NIH and could be an option for treatment to correct the liver function and reduce or eliminate cornstarch like the therapy for GSD1a. Work to improve upon the existing vector or create a new vector that corrects both the metabolic condition in the liver and the neutropenia observed in the immune system are ongoing and a potential project for this foundation to support. Sophie’s Hope Foundation is consulting with the leading scientists and doctors in GSD field on the best path forward for Gene Therapy.
Sophie’s Hope is very bullish on the promise of Gene Editing to cure rare diseases and more specifically GSD1b. Gene Editing is emerging as a viable solution to cure rare diseases by correcting the mutated gene and thus producing a permanent cure. This is relatively new and rapidly evolving technology but is obviously an area we would like to be able to direct resources. Obviously, a cure is the goal, but as one can imagine, it will take many years of persistence, coordination, and most importantly private funding from organizations like ours.
Our Plan for Funding
What we have learned from discussions with scientists, drug companies, researchers, doctors, and other rare disease advocates is that private organizations like Sophie’s Hope play an integral role in bringing drugs to market for rare diseases. To put it simply, we need to build up a significant fund of money and make some tough decisions on how to best invest it. Discussions regarding the allocation of current resources are ongoing, and we are evaluating one specific grant aimed at improving or finding a new gene therapy vector that would fix both the metabolic liver function (hypoglycemia) and the immune function (neutropenia). Ideally, we have multiple projects going on at once, but that will be entirely dependent upon funding. We are advised by a Medical (Dr. Walla Al-Hertani) and Scientific (Joseph Barberio) Advisor on our board and have been consulting with other leading researchers and doctors associated with rare diseases and more specifically GSD, from across the globe. We have also created the CureGSD1b Research Alliance www.curegsd1b.org in an effort to bring more collaboration amongst people affected by the disease, raise awareness for funding purposes, and establish a collaborative portal for researchers and doctors to help facilitate progress to a cure. We know we can cure GSD1b, but when and how will be dependent on the amount of money we can raise and how we decide to invest it.
Thank you for supporting us on this mission to find a cure for GSD1b. 100% of all donations to Sophie’s Hope Foundation go towards research and development for breakthroughs to cure GSD type 1b.
Sophie’s Hope Gear
We have worked with a local company called Swagsalot to create a custom store for buying Sophie’s Hope gear. All proceeds are donated back to the foundation so not only are you supporting us by helping raise awareness and promoting the cause, but also critical funding. Also, feel free to give us feedback on items you would buy if we had it or quality, etc. We can add items or change brands pretty easily. We want people to help spread awareness by actually wearing this stuff. Thank you for your support! We can’t wait to see Sophie’s Hope gear out in the wild.