What is GSD and GSD1b?
Current Treatment of GSD1b:
The current treatment protocol aims to maintain metabolic control using a combination of a restrictive diet and scheduled doses of uncooked cornstarch throughout the day and night.
- Cornstarch – uncooked cornstarch consumed on average every 2-4 hours (although it varies by person).
- Missed or late doses can have very severe consequences that include hypoglycemia, hospitalizations, seizures, and death.
- Yes, this includes overnight as well.
- Cornstarch is a complex carbohydrate that is slow for the body to break down and helps sustain blood sugar levels without major spikes and drops.
- Meticulous Diet – A restrictive diet that is low in sugar (under 5g per meal) and low in carbs.
- Timing and quantity are very important. It’s a constant balancing act and patients are often adjusting based on a myriad of reasons like illness, growth, puberty, etc.
- Blood Sugar Monitoring – Finger pricks (using a glucometer) are still the most accurate way to monitor blood sugar and verify a low or high, however Continuous Glucose Monitors are now being used more commonly for GSD to help monitor blood sugar trends and alert when a low is coming. Sophie wears a Dexcom, but we still check her finger many times a day.
- Feeding Tubes – Although Sophie does not, the majority of children w/ GSD have feeding tubes due to the criticality of cornstarch and diet. Sophie drinks her cornstarch orally mixed with water.
- G-CSF – Daily injection of Granulocyte colony stimulating factor (G-CSF) to boost white blood cells.
- G-CSF has many long-term risks due the stress on the bone marrow, and long-term use has been linked to leukemia.
- SGLT2 Inhibitor – A recent discovery of an SGLT2 Inhibitor, called empagliflozin (US brand name Jardiance), has shown promise as a potential alternative to G-CSF or in conjunction with it. We continue to fund research and guideline creation in this area.
- Sophie is currently having success with Jardiance, and we have been able to stop the daily G-CSF injections.
Additional Medications / Supplements:
- Some patients take over 20 different medications and supplements to help treat symptoms brought on or related to GSD1b.
- Many patients take a specific IBD medication.