Two press releases were issued recently with one announcing an Exclusive Option Agreement between GeneTx Biotherapeutics, LLC («GeneTx») and  Ultragenyx Pharmaceutical, Inc. («Ultragenyx»), and the other announcing GeneTx’s lead candidate receiving Orphan Drug Designation (ODD) and Rare Pediatric Drug Designation (RPD). GeneTx would like to take this opportunity to provide additional information to our community about this very exciting news.

First, some background.  In 2012, the Foundation for Angelman Syndrome Therapeutics («FAST») began funding a robust research program at the laboratory of Dr. Scott Dindot of Texas A&M University in order to understand the imprinting mechanism (antisense transcript) of the normally silent, paternal UBE3A gene and how that mechanism could be circumvented as a potential therapeutic path to treating Angelman syndrome (AS).   In 2017, Dr. Dindot identified a drug (known as an antisense oligonucleotide) that targets a specific location on the antisense transcript, on the paternal 15th chromosome, and allows the normally silent, paternal copy of UBE3A in neurons of the brain to be expressed.  FAST launched the for-profit company, GeneTx Biotherapeutics, in order to develop this potential treatment for AS.  Creating a for-profit biotech enabled FAST to secure investment dollars, rather than donor dollars, to fund the very expensive process of drug development.  The following is a list of FAQs related to the exciting press release issued today:


  • What is an antisense oligonucleotide?  An antisense oligonucleotide (ASO) is a synthetic molecule of DNA/RNA that binds to RNA and alters the way genes and proteins are expressed.
  • Is an ASO considered gene therapy?  No.  An ASO is considered a drug.
  • How will this drug be administered?  Is it a pill?  It is not a pill.  This potential drug needs to reach the brain, so if the US Food and Drug Administration (FDA) approves it for human clinical trials, it will be administered into the central nervous system via a lumbar puncture in the lower back, otherwise known as a “spinal tap”.  This drug is not a “one and done” treatment, meaning it would need to be administered over the patient’s life-time. Ongoing and further studies will determine how often dosing would be required.
  • Does GeneTx’s deal with Ultragenyx mean that a clinical trial will be starting?  GeneTx’s goal is to bring this ASO to clinical trial(s) as soon as possible but currently we are in our Investigation New Drug (IND) enabling studies which are required by the US FDA prior to starting human clinical trials.  These studies are required in order to ascertain as much safety information as possible prior to administering a novel potential drug to humans. At this time, we have no available information on when a clinical trial will begin, what the inclusion/exclusion criteria will be, where clinical trial sites will be located, what age range and/or genotype would be targeted for recruitment or any other clinical trial protocol information.  GeneTx will continue to update the community as our development plan progresses and will share any and all information as soon as we possibly can.  
  • What is Orphan Drug Designation (ODD)? ODD is a special status granted by the FDA to a drug intended to treat a rare disease.  For more information about what this special status entails, click here.
  • What is Rare Pediatric Disease Designation (RPD)? RPD status is granted by the FDA for diseases that are serious and life-threatening  in individuals from birth to 18.  For more information on what this designation means, click here.
  • Does GeneTx’ RPD designation mean that GTX-102 is being developed only for individuals 18 and under?   If GTX-102 is found to be safe and effective in human clinical trials, GeneTx will seek approval for individuals with AS of all ages.
  • There are clinical trials underway for AS right now and talk of more clinical trials to come – how do I decide which trial to enroll in?  Deciding to enroll your child in a clinical trial is likely the most difficult decision a parent or caregiver can make.  This decision can only be made by you, your family, and your primary physician after receiving and understanding all of the relative information about each particular trial.  Individuals can not be enrolled in more than one clinical trial researching potential treatment at the same time.
  • Why did GeneTx enter into an Option Agreement with Ultragenyx?  GeneTx is a very small company and although we knew that we had the knowledge, expertise, desire, and passion to move this potential therapeutic forward as quickly and safely as possible, we also knew that we needed to identify a pharmaceutical company with as much knowledge, expertise, desire, and passion, as well as a proven track record in rare disease drug development, drug approvals and global commercialization, to assist us in getting this potential medicine to all of our families, around the globe, if, and when, studies warrant.  During the option term, Ultragenyx and GeneTx will maintain a robust joint collaboration on the development of this potential therapeutic.
  • What will GeneTx do with the payments it receives from Ultragenyx?  Ultragenyx will pay an upfront fee of $20 million for an exclusive option to acquire GeneTx.  That money will be used by GeneTx to finalize IND enabling studies and prepare for a Phase 1/2 human clinical trial.  Ultragenyx may extend the option period by paying an option extension payment of $25 million. That extension payment  will be used to fund a Phase 1/2 trial on GTX-102.  There will be no financial disbursements to shareholders of GeneTx until if and when Ultragenyx exercises its option to acquire GeneTx.
  • What made GeneTx choose Ultragenyx?  GeneTx feels strongly that Ultragenyx’s focus on rare and ultra-rare diseases, coupled with the company’s overall philosophy, patient advocacy and support, and patient focused mission is not only unparalleled, but also a perfect fit with GeneTx and the AS community.  Please visit Ultragenyx’s patient advocacy site to learn more about this outstanding company.


GeneTx is thrilled with today’s announcement and join the entire Angelman community in proudly welcoming Ultragenyx to our mission and cause.