GSD patients, the liver cannot break down the glycogen into glucose and causes
drop dangerously low. This is because of the mutated gene for the enzyme
glucose-6-phosphatase-α (G6Pase-α), which controls sugar levels and fails in
‘Scientists have developed the world's first gene therapy for glycogen storage disease (GSD) to help GSD patient community to get off the cornstarch dependency and maintain normal glycemic controls.’
type 1a is characterized by short stature and rapid accumulation of glycogen in
the liver and kidneys. GSD usually presents in infancy, early childhood or
adulthood, causing hypoglycemia or low blood glucose levels
with GSD need to be on cornstarch every few hours just for survival.
Gene Therapy Cure for a Deadly Liver Disease
David Weinstein, a pediatric endocrinologist and scientist, is the principal
investigator of a gene therapy
clinical trial for GSD. Dr Weinstein is
also the Director of the Glycogen Storage Disease Program at Connecticut Children's
and UConn Health and cares for about 700 such patients across 51 countries.
team conducted the gene therapy clinical trial with Ultragenyx, a
biopharmaceutical company. The therapy was initially administered to three
patients. The gene therapy delivers a copy of the normal gene to the liver
through a viral vector. The new copy replaces the mutated sugar enzyme gene and
works by stabilizing the body's glucose control.
investigational gene therapy was first administered at UConn John Dempsey
Hospital in Farmington, Connecticut, on July 24, 2018.
Watts was one of the first patients to receive this therapy and it has worked
so well that he is no longer dependent on cornstarch and has better glucose
overall health has improved with weight loss
, improved muscle strength
and better energy levels. Before receiving the gene therapy, Watts was on 400
grams of cornstarch per day. He says the treatment has changed his life and he
feels ready to take on any challenge. He no longer has the hassle of getting up
at night to get a dose of cornstarch or experiencing severe hypoglycemia. Watts
is able to wake up after normal hours of sleep with no glucose metabolism
disturbances. His message to other GSD patients is to keep up the hope.
first clinical trial was mainly meant to test out safety in humans and all the
three patients just got a test dose of one-third strength. According to Dr.
Weinstein, even with this low dose, the response has been remarkable
The patients were able to get through the night without the cornstarch dose.
other patients are now on a lower dose of daily cornstarch. The three patients
will also participate in a clinical trial to test a higher gene therapy dose.
Dr. Weinstein says this is an exciting phase and they are hopeful that a higher
dose will bring about dramatic health improvements in these patients.
Weinstein and his team have been working out a gene therapy for GSD since the
last 21 years and this development is a hope for the GSD patient community. The
ultimate goal of such a gene therapy is to get off the cornstarch dependency
and maintain normal glycemic controls. References
- World's First Gene Therapy for Glycogen Storage Disease Produces Remarkable Results - (https://today.uconn.edu/2019/09/worlds-first-gene-therapy-treatment-glycogen-storage-disease-produces-remarkable-results/)
- Glycogen storage disease type 1A - (https://rarediseases.info.nih.gov/diseases/7864/glycogen-storage-disease-type-1a)