Ultragenyx Announces Partnership with GeneTx to Advance Treatment for Angelman Syndrome

Program aims to be first disease-modifying, antisense oligonucleotide (ASO) treatment for the serious, debilitating, rare neurogenetic disorder.

Aug 14, 2019 | Globe Newswire

PRESS RELEASE Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE), a biopharmaceutical company focused on the development of novel products for serious rare and ultra-rare diseases, and GeneTx Biotherapeutics LLC, today announced a partnership to develop GeneTx’s GTX-102, an antisense oligonucleotide (ASO) for the treatment of Angelman syndrome, a serious, debilitating, rare neurogenetic disorder that affects approximately 1 in 15,000 people worldwide. GTX-102 is currently in late preclinical development with an investigational new drug (IND) application expected to be filed with the U.S. Food and Drug Administration (FDA) in the first half of 2020.

“Angelman syndrome is a devastating neurological condition with no treatment options that represents a very significant unmet medical need,” said Emil D. Kakkis, M.D., Ph.D., Chief Executive Officer and President of Ultragenyx. “GTX-102 is a novel and promising potential therapy specific to the disease mechanism in these patients, and we are pleased that GeneTx chose to partner with us based on our track-record of rapid, innovative development in rare diseases.”

“GeneTx was formed by the Foundation for Angelman Syndrome Therapeutics (FAST), the largest patient organization in the Angelman community. Donations to FAST, from family and friends, supported the preclinical research on this therapeutic strategy,” stated Paula Evans, Chief Executive Officer of GeneTx. “It is entirely fitting that GeneTx would partner with a company that not only has proven expertise in the development and commercialization of rare disease therapeutics, but truly puts the patient first in each and every step of the treatment process.”

Under the terms of the agreement, Ultragenyx will make an upfront payment of $20 million for an exclusive option to acquire GeneTx. This option may be exercised any time prior to 30 days following FDA acceptance of the IND for GTX-102. Ultragenyx may extend the option period by paying an option extension payment of $25 million. Ultragenyx may exercise this extended option any time until the earlier of 30 months from the first dosing of a patient in a planned Phase 1/2 study (subject to extensions) or 90 days after results are available from that study.

During the exclusive option period, GeneTx will provide regulatory and scientific expertise as well as fund all development activities, while Ultragenyx will provide staff support, including strategic guidance and clinical expertise. The parties will collaborate on the submission of the IND and management of the Phase 1/2 study in patients with Angelman syndrome. If Ultragenyx acquires GeneTx, Ultragenyx will then be responsible for all development and commercialization activities. If Ultragenyx decides to exercise its option, it will purchase GeneTx for an initial purchase price and contingent milestones and royalties.

About Angelman Syndrome
Angelman syndrome is a rare, neurogenetic disorder caused by loss-of-function of the maternally inherited allele of the UBE3A gene. The maternal-specific inheritance pattern of Angelman syndrome is due to genomic imprinting of UBE3A in neurons of the central nervous system, a naturally occurring phenomenon in which the maternal UBE3A allele is expressed and the paternal UBE3A is not. Silencing of the paternal UBE3A allele is regulated by the UBE3A antisense transcript (UBE3A-AS), the target of GTX-102. In almost all cases of Angelman syndrome the maternal UBE3A allele is either missing or mutated, resulting in limited to no protein expression. This condition is typically not inherited but instead occurs spontaneously.

Individuals with Angelman syndrome have developmental delay, balance issues, motor impairment, and debilitating seizures. Some individuals with Angelman syndrome are unable to walk and most do not speak. Anxiety and disturbed sleep can be serious challenges in individuals with Angelman syndrome. While individuals with Angelman syndrome have a normal lifespan, they require continuous care and are unable to live independently. Angelman syndrome is not a degenerative disorder, but the loss of the UBE3A protein expression in neurons results in abnormal communications between neurons. Angelman syndrome is often misdiagnosed as autism or cerebral palsy. There are no currently approved therapies for Angelman syndrome; however, several symptoms of this disorder can be reversed in adult animal models of Angelman syndrome suggesting that improvement of symptoms can potentially be achieved at any age.

About GTX-102
GTX-102 is an investigational antisense oligonucleotide designed to target and inhibit expression UBE3A-AS. Studies show that GTX-102 reduces the levels of UBE3A-ASand reactivates expression of the paternal UBE3A allele in neurons of the CNS, and that reactivation of paternal UBE3A expression in animal models of Angelman syndrome improves some of the neurological symptoms associated with the condition. A UBE3A-AS targeted ASO has been granted orphan-drug designation from the U.S. FDA.

About GeneTx Biotherapeutics
GeneTx Biotherapeutics LLC is a startup biotechnology company singularly focused on developing and commercializing a safe and effective antisense therapeutic for the treatment of Angelman syndrome. GeneTx was launched by FAST, a patient advocacy organization and the largest non-governmental funder of Angelman syndrome research. GeneTx licensed the rights to antisense technology intellectual property from The Texas A&M University System in December 2017.

About Ultragenyx Pharmaceutical, Inc.
Ultragenyx is a biopharmaceutical company committed to bringing patients novel products for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need and clear biology for treatment, for which there are typically no approved therapies treating the underlying disease.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx’s strategy is predicated upon time and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

TRNDS 2019

University of Rochester
Saunders Research Building
Helen Wood Hall Auditorium
255 Crittenden Blvd
Rochester, NY 14642

Date: Friday, September 13
Time: 7:30 am – 4:00pm


Sign-up for TRNDS updates and rare disease news

  • New Grants will Accelerate Clinical Trials in Rare Neurological Disorders
  • Neurogene Offers Access to Genetic Testing for Lysosomal Storage Disease
  • NIH launches 5-year, $10 million study on acute flaccid myelitis
  • Study refines ALS risk among first-degree relatives of patients with disease
  • NCATS Director Warns of 'Poorly Understood Public Health Implications of Rare Diseases'
  • Speeding Up Drug Discovery for Brain Diseases
  • NIH-Funded Project Aims to Build a ‘Google’ for Biomedical Data
  • Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
  • Jsyne Gershkowitz, Amicus Therapeutics, TRNDS 2019
    (Podcast) Get to know Jayne Gershkowitz, Chief Patient Advocate at Amicus Therapeutics
  • PJ Brooks, NCATS, NIH, TRNDS
    Meet TRNDS 2019 Speaker PJ Brooks
  • Rare Pediatric Disease PRVs: FDA Updates Guidance
  • Batten Disease Study
    Neurogene Opens Natural History Study of CLN7, CLN5 Diseases at UT Southwestern
  • C-Path and NORD Collaborate to Launch Rare Disease Data Platform
  • TRNDS 2019 speaker Tauna Batiste, BDSRA
    Meet TRNDS Speaker Tauna Batiste
  • HD Patients Prefer Less Invasive, No-Placebo Gene Therapy Trials
  • Evidation & Eli Lilly Study Uses Apple Devices, Apps to Predict Cognitive Impairment
  • 'Dr. Google' Helps Some Patients Diagnose a Rare Disease
  • Antisense Drugs for HD, ALS & Prion Could Meet the Need for Brain Treatments
  • Ultragenyx Partners with GeneTx to Advance Treatment for Angelman Syndrome
  • Netflix's Medical Investigation Docuseries 'Diagnosis'
  • NIH All of Us Project Tops 270,000 Sign-ups
  • FDA Cancer Office Taps Syapse for Real-world Evidence Development
  • Gene Linked to Rare Neurological Disorder May Play a Role in Alzheimer’s
  • Gene Therapy Developers Issue Principles for Human Genome Editing
    Gene Therapy Developers Issue Principles for Human Genome Editing
  • Forget Single Genes: CRISPR Now Cuts & Splices Whole Chromosomes
  • Benjjamin Schlatka MC10 TRNDS
    TRNDS Speaker Benjamin Schlatka, MC10
  • TRNDS Danielle Edwards Jett Foundation
    TRNDS Speaker Danielle Edwards, Jett Foundation
  • His daughter has a rare disorder. He’s developing a novel gene therapy.
  • A Doctor Tested a New Treatment on Himself, Now it's Saving Other Lives
  • Study Presents Clinical, Genetic Landscape of Pompe Disease

Latest Tweets

TRNDS Speakers

Room Block

Hilton Garden Inn
Medical Center

30 Celebration Drive
Rochester, NY 14620

Phone: 585-424-4404

TRNDS Rate: $149/night