Glycogen Storage Disease Type 1a (GSD1a)
Patients who are diagnosed with GSD1a (also known as von Gierke disease) lack 1 protein that helps process sugar, which leads to frequent episodes of low glucose (sugar) and a buildup of glycogen in the body’s cells in certain organs and tissues — especially in the liver.
Diagnosing GSD1a
GSD1a is a hereditary disease passed down from parents to children and can be detected through laboratory testing, blood tests that indicate abnormal levels of glucose, and liver biopsy to confirm the specific condition type.
It occurs when both parents have an abnormal gene (gene mutation) that affects a specific way glycogen is stored or used.
Symptoms
The primary symptom of GSD1a in infancy is a low blood sugar level. Symptoms of this often appear in infants around three to four months old and include:
Enlarged Organs
The liver and kidneys can become enlarged, causing abdominal pain and swelling.
Possible Seizures
GSD1a can cause seizures in individuals due to repeated episodes of hypoglycemia.
Delayed Growth
Continued low blood sugar can lead to delayed growth and muscle weakness. Delayed puberty may be a symptom later in life.
Weak Bones
GSD1a may contribute to osteoporosis, or thinning bones.
Recruiting Trials
Ba1ance Trial
The Ba1ance Trial is evaluating if an investigational mRNA treatment has the potential to correct the cause of GSD1a in participants 6 years of age or older.
To learn more about any of our rare disease clinical trials or to see if you may qualify to join, please contact the Moderna WeCare Team.
All investigational medications and treatments must go through several stages of research (also called “phases of research”) to determine if it is safe and effective. Clinical trials are usually conducted in 4 phases that build on one another, and each phase is designed to answer certain questions in an ethical manner.
- Phase 1: A trial of a small number of participants to find safe doses, gather information about how the investigational treatment interacts with the human body, and look for side effects.
- Phase 2: A trial of more participants to further evaluate how the investigational treatment affects the body, gather safety data, and monitor side effects.
- Phase 3: A trial with the largest number of participants to gather more safety data, see if the investigational treatment is effective, and compare it to existing treatments.
- Regulatory Approval: A regulatory agency reviews data from the clinical trial and determines if the investigational treatment is safe and effective for use in individuals with the condition.
- Phase 4: After receiving regulatory approval, the investigational treatment is made available to the public. This phase of research is used to continue to monitor the safety of the treatment, even after it has been approved for public use.
Children are not small adults. Adult treatments may not always work the same way in children, or some treatments may be better suited for children. Some conditions affect only children, so it is important for researchers to understand the safest and most effective dose of medication for children across all age ranges.
Yes, participation in any clinical trial is voluntary. Participants are free to discuss any questions with the trial doctor or trial team at any time. Participants also have the right to withdraw from the PAthway Trial at any time and for any reason.
Participants will receive compensation for their time as well as reimbursement for travel and other trial-related expenses.
For certain clinical trials, please contact Moderna to find out if your trial offers compensation.
