Jamas LaFreniere, Founder of Sophie’s Hope Foundation and CURE GSD1b, and Blair Stone-Schneider, Executive Director of Sophie’s Hope Foundation, discuss their patient advocacy organization and starting a natural history study for glycogen storage disease type 1b (GSD1b).
GSD1b is an inherited condition characterized by the inability to break down glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1b, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. Signs and symptoms of the condition generally develop at age 3 to 4 months and may include hypoglycemia, seizures, lactic acidosis, hyperuricemia, and hyperlipidemia. Affected people may also have short stature; thin arms and legs; a protruding abdomen; neutropenia (which may lead to frequent infections); inflammatory bowel disease and oral health problems. GSD1b is caused by changes in the SLC37A4 gene.
There are currently no approved treatments for this condition. Management of the disease includes a strict diet of corn starch every few hours, including overnight, to help regulate blood sugar levels. This places a high burden of disease on caregivers and patients with GSD1b.
Sophie’s Hope Foundation and CURE GSD1b are patient advocacy organizations founded by Jamas and Margot LaFreniere following their daughter Sophie’s diagnosis of GSD1b in 2019 at the age of two. Their mission is to find a cure for GSD1b through funding research and coordinating the collaboration of patients, caregivers, doctors, researchers, and pharmaceutical companies. Additionally, the organization focuses on raising awareness globally among the general population, governments, pharmaceutical industry, and regulatory bodies, as well as supporting patients and caregivers through community building and education.
Currently, a natural history study is underway for patients with GSD1b. The study is important in understanding disease progression and enabling future therapeutic development. Mr. LaFreniere and Ms. Stone-Schneider hope that this study is the first step in partnering with pharmaceutical companies to drive research and development of treatments for patients with GSD1b.
To learn more about GSD1b and other rare metabolic conditions, visit https://checkrare.com/diseases/metabolic-disorders/
