Can Gene Therapy treat Glycogen storage disease (GSD)?
() At the Association for Glycogen Storage Disease’s 41 st Annual Conference, Dr. David Weinstein of UConn School of Medicine and Connecticut Children’s presented his groundbreaking, one-year clinical trial results for the novel gene therapy treatment for glycogen storage disease (GSD).
Who is the lead investigator of the glycogen storage disease study?
Weinstein, the clinical trial’s lead investigator, is pediatric endocrinologist-scientist who cares for more than 700 GSD patients from 51 countries as director of the Glycogen Storage Disease Program at Connecticut Children’s and UConn Health — the largest center in the world for the care and treatment of this condition.
What is the outlook for someone with a glycogen storage disease (GSD)?
What is the outlook for someone with a glycogen storage disease (GSD)? The outlook depends on the type of GSD and the organs that are affected. Thanks to recent advancements in therapy, treatment is very effective in managing the types of glycogen storage disease that affect the liver.
Is there a cure for GSD type II?
Because they affect so many organ systems, GSD Type II (Pompe’s disease) and GSD Type IV (Andersen’s disease) are very hard to treat and can be fatal. Research into enzyme replacement therapy and gene therapy is promising, which may improve the outlook for the future. Living With When should I call my healthcare provider about GSD?
Is there a cure for GSD?
After GSD is identified, the only way to minimize symptoms is to closely monitor blood sugar levels and to adjust diet accordingly. Currently there is no cure for GSD.
Is GSD a genetic disorder?
Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. It is passed down from parents to children (inherited). For most GSDs, each parent must pass on one abnormal copy of the same gene. Most parents do not show any signs of GSD.
What happens when there is too much glycogen in the liver?
Too much glycogen and fat stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI.
What is Anderson's disease?
Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues.
What are possible treatments for glycogen storage disease?
Glycogen Storage Disease TreatmentA nasogastric infusion of glucose in infants and children under age two.Dietary changes, including:In children over age two, frequent small carbohydrate feedings are given throughout the day. ... Elimination of foods that are high in fructose or lactose (type I only)More items...
How many types of GSD are there?
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When is GSD diagnosed?
In most cases GSD is diagnosed within the first year of life, but in some cases the diagnosis may not be made until later in childhood. Glycogen storage disorders occur in about one in 20,000 to 25,000 newborn babies. Many different enzymes are used by the body to process glycogen.
How is GSD diagnosed?
Tissue biopsy – Testing a sample of tissue from a muscle or your liver to measure the level of glycogen or enzymes present. Gene testing – To look for problems with the genes for different enzymes. Gene testing can confirm a GSD.
How do you reduce liver glycogen?
Ingestion of carbohydrate at a relatively high rate (>1.5 g/min) can prevent liver glycogen depletion during moderate-intensity exercise independent of the type of carbohydrate (e.g., glucose vs. sucrose) ingested.
Can adrenal insufficiency be cured?
Adrenal insufficiency can be confirmed or ruled out with blood tests. Although there's no cure, primary adrenal insufficiency can be managed effectively by taking cortisol and aldosterone replacement hormones, with the goal of stabilizing hormone levels and relieving signs and symptoms.
What foods should you avoid with Addison's disease?
Foods to avoid if you have Addison's diseaseCoffee.Green tea.Black tea.Too much alcohol.Too many bananas.Too many oranges.Salt substitutes.
What triggers Addison's disease?
Addison's disease is caused by damage to your adrenal glands, resulting in not enough of the hormone cortisol and, often, not enough aldosterone as well. Your adrenal glands are part of your endocrine system. They produce hormones that give instructions to virtually every organ and tissue in your body.
Who is the lead investigator of GSD?
Weinstein, the clinical trial’s lead investigator, is pediatric endocrinologist-scientist who cares for more than 700 GSD patients from 51 countries as director of the Glycogen Storage Disease Program at Connecticut Children’s and UConn Health — the largest center in the world for the care and treatment of this condition.
Where was Weinstein's gene therapy done?
Weinstein, whose team first administered the investigational gene therapy at UConn John Dempsey Hospital in Farmington, Connecticut, on July 24, 2018, calls the results “remarkable.”. One year after patient Jerrod Watts first received the GSD vaccine during a 30-minute infusion, he is completely off of cornstarch.
How does gene therapy work?
The gene therapy works by delivering a new copy of a gene to the liver via a naturally occurring virus. Administered through the patient’s bloodstream, the new copy replaces deficient sugar enzymes caused by the disease and jump starts the body’s glucose control. Both Weinstein and Watts were surprised by Watts’ response to the gene therapy.
What happens if you have GSD?
When someone has GSD, they are missing one of the enzymes that breaks down glycogen. When an enzyme is missing, glycogen can build up in the liver. Or glycogen may not form properly. This can cause problems in the liver or muscles, or other parts of the body. GSD is passed down from parents to children (is hereditary).
Why do GSDs occur?
Most GSDs occur because both parents pass on the same abnormal gene to their children. In most cases parents don’t show any symptoms of the disease.
What are the symptoms of GSD in a baby?
Symptoms for babies may include: Too much acid in the blood (acidosis) High blood cholesterol levels (hyperlipidemia) The symptoms of GSD may look like other health problems. Always see your child’s healthcare provider to be sure.
What is the name of the disease that causes a swollen belly?
Type III, Cori disease , or Forbes disease. People with type III don’t have enough of an enzyme called the debranching enzyme, which helps break down glycogen. The glycogen can’t fully break down. It collects in the liver and in muscle tissues. Symptoms include a swollen belly, delayed growth, and weak muscles.
How do you know if you have GSD?
Symptoms will vary based on the type of GSD a child has, and on which enzyme he or she is missing. Because GSD most often affects the muscles and the liver, those areas show the most symptoms. General symptoms of GSD may include: Not growing fast enough.
What is glycogen storage disease?
Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. It is passed down from parents to children (inherited). For most GSDs, each parent must pass on one abnormal copy of the same gene. Most parents do not show any signs of GSD.
Can a child with GSD have a medical treatment?
Your child may also have to take certain medicines. For other types of GSD, your child may need to limit exercise to avoid muscle cramps. He or she may need to have a medical treatment to replace the enzyme that is missing (enzyme replacement therapy).
Where is Weinstein's GSD program?
Weinstein’s GSD Program, currently based at the University of Florida, is the largest clinical and research program of its kind in the world. Pediatric and adult patients living with the rare, genetic liver disease travel from across the globe for his team’s expert care, a number which totals more than 500 patients from 49 states and 45 countries.
Who is the recipient of the Order of the Smile?
He is the recipient of the prestigious international humanitarian award, the Order of the Smile, for helping children around the world with GSD, a recognition shared with Pope John Paul II, Mother Teresa, Nelson Mandela, and Pope Francis. Weinstein was named one of the inaugural Goldwater Scholars in 1989.
Where did Harvey Weinstein go to medical school?
Weinstein graduated from Connecticut’s Trinity College and earned his medical degree at Harvard Medical School. At Boston Children’s Hospital he completed his residency, chief residency, and fellowship in pediatric endocrinology and completed his masters in clinical investigation at Harvard and MIT. He became the director of the GSD program ...
Can GSD cause seizure?
However, in GSD, the liver fails to breakdown glycogen into glucose causing the body’s blood sugar levels to drop dangerously low, which can lead to seizure or death unless there is a constant intake of glucose.
Is cornstarch safe for GSD patients?
Thanks to cornstarch a greater number of patients with GSD are now surviving into adulthood. However, nearly 35 years later cornstarch is the only approved treatment available. GSD patients are high risk for other health conditions because their bodies try to compensate for the liver’s dysfunction and find alternative energy sources.
What is the most common form of glycogen storage disease in 2021?
June 15, 2021. Type I glycogen storage disease (GSD I), also known as von Gierke’s disease, is the most common form of glycogen storage disease, accounting for 25% of all cases. It is an inherited disorder that affects the metabolism – the way the body breaks food down into energy.
Does GSD cause liver failure?
The liver is able to perform many of its other functions normally, and there is no evidence of liver failure.