CVM Professor's Antisense Program Being Investigated as Possible Angelman Syndrome Treatment
Posted March 01, 2018
Research from the laboratory of Texas A&M College of
Veterinary Medicine & Biomedical Sciences (CVM) associate
professor Scott Dindot has become the basis for an investigational
antisense drug that researchers hope will lead to the treatment of
Angelman syndrome (AS).
Investigational-new-drug-enabling studies on the potential
therapeutic are currently underway with GeneTx Biotherapeutics LLC (GeneTx), a new
biotech launched last week by the FAST (Foundation
for Angelman Syndrome Therapeutics).
“This is a new area of
medicine, known as a targeted therapy. Historically, clinicians
have treated symptoms (of a disease) with medication but not the
cause of the condition,” Dindot said. “A targeted therapy goes
after the cause of the condition and attempts to fix it in some
way. The drug we developed is called an antisense oligonucleotide,
which is a synthetic molecule of DNA that binds to a gene and
alters the way it is regulated.
“There are a few drugs that have been developed like this,” he
said. “The drug is synthesized, and it looks like DNA but it’s not
A rare genetic disorder that affects approximately one in 15,000
live births, AS is caused by a loss of function of the maternally
inherited UBE3A gene. Symptoms of AS include developmental
delay, impaired motor function, loss of speech, and epilepsy.
“Individuals with Angelman syndrome do not make the
UBE3A protein in their brain because their father’s copy
(of the gene) is turned 'off' by a naturally occurring phenomenon
called genomic imprinting—we don’t know why this happens, but it
occurs in everyone—and because they have a mutation on the copy
inherited from their mother, which leaves them with no
UBE3A protein in the neurons of their brain," Dindot said.
"The drug works by turning on the copy of the UBE3A gene
inherited from the father."
Dindot said this type of therapy has implications for other
“First you have to know what gene is causing the condition, and
then, depending on the type of mutation, you can use this
technology to manipulate the way the gene is regulated,” he said.
“FAST has been funding my lab to understand the way the father’s
copy of UBE3A is turned off and why; we invested a lot of
time and energy in understanding how this process works.
“While we are still trying to understand it, we discovered
something that we thought was important, and we thought that it
would be a good target for this drug,” he said. “We designed a drug
to the target, and all of our preliminary studies indicate it’s a
Depending on the outcomes of the investigational
new-drug-enabling studies, the hope is to move the drug into a
Phase I Clinical Trial.
“This approach has been shown by other labs to be effective; it
improves some of the core symptoms of the disorder in a mouse model
of AS,” Dindot said.
Owned, in part by Texas A&M University, GeneTx entered into
a worldwide license agreement with The Texas A&M University
System and a research collaboration agreement with Texas A&M
AgriLife Research in hopes of further developing and
commercializing this product.
“The launch of GeneTx is the logical next step in FAST’s mission
to cure Angelman syndrome,” said Paula Evans, FAST chairperson and GeneTx CEO.
“We want to ensure potential treatments for AS are brought to each
patient as safely and expeditiously as possible, and being actively
involved in the interim process between bench and bedside ensures
we will have a strong voice in the pricing and accessibility of
possible treatments for Angelman families worldwide.”
“For the past eight years, FAST has narrowly focused on
investing in leading-edge technologies to treat the underlying
cause and debilitating symptoms of Angelman syndrome,” said Allyson
Berent, FAST CSO and GeneTx COO. “Our aggressive research agenda
and collaboration with Texas A&M AgriLife Research has
identified and characterized a promising therapeutic to address
this debilitating syndrome. Angelman syndrome has such a
significant unmet need, for which there are no approved
therapeutics, and the landscape for bringing meaningful treatments
to the community is significantly expanding.”
For more information about the
Texas A&M College of Veterinary Medicine & Biomedical
Sciences, please visit our website at vetmed.tamu.edu
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Contact Information: Megan Palsa, Executive Director of
Communications, Media & Public Relations, Texas A&M College
of Veterinary Medicine & Biomedical Science; firstname.lastname@example.org;
979-862-4216; 979-421-3121 (cell)
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