The Wilderness of Rare Genetic Diseases and the Parents Navigating It
“Rare parents” are often left charting a world of unknowns. But their persistence has paid off with more advanced treatment options.
Catalyzing the development of gene therapeutics from concept to clinic
The Gene Therapy Program is a complex R&D organization with the internal capacity to perform gene transfer studies from basic research through phase 1/2 proof-of-concept human trials.
Providing investigators access to state-of-the-art vector technology
The Vector Core is a full service core facility with over a decade of experience in the production of viral-based vectors.
Partnering with industry leaders to advance the field of genetic therapeutics
The Gene Therapy Program aims to discover transformative genetic-based therapeutics, which are translated to proof-of-concept in clinical trials and commercialized through partnerships to assure access to patients in need.
GTP is innovating high-performance vectors to enhance the safety and efficiency of genetic therapeutics.
GTP provides preclinical pharmacologic and safety testing in appropriate in vitro and in vivo models, as well as IND-enabling studies designed to support the advancement of a clinical candidate to first-in-human clinical trials.
GTP provides strategic regulatory guidance and support for the Investigational New Drug (IND) application in order to advance a product candidate to clinical trials.
Phase I trials assess the safety and dose-dependent effects of a treatment in healthy volunteers.
Phase II trials assess the effectiveness of a treatment in a small group of patients, typically up to several hundred. For rare diseases, however, studies may only be able to enroll one to three patients per year for a given site.
Phase III studies involve randomized, blind testing on a large patient population. FDA approval for marketing of a therapy can be requested when Phase III studies are complete.
The cell and gene therapy industry represents a global market that is expected to exceed $20 billion by 2025. With recently approved products in both the US and EU, this industry is poised for dramatic growth.
This program represents our ambitious commitment to developing cutting-edge vector technologies. Our diversified approach focuses on delivering advanced vectors for traditional gene therapy applications as well as vectors tailored specifically for genome editing. The design of these transformative next-generation AAV vectors is being guided by experimental results from studies on the basic biology of AAV that leverage our world-class resources in molecular, structural, cell, and computational biology.
Spinal muscular atrophy (SMA) is a rare genetic disorder caused by mutations in the SMN1 gene. These mutations lead to a deficiency of the survival motor neuron (SMN) protein, which results in the loss of specialized nerve cells in the spinal cord and brainstem such that information cannot be passed from the brain to the muscle. This leads to severe muscle weakness and loss of muscle control, as well as impaired breathing and swallowing in severe cases. As part of a collaborative alliance with Biogen, GTP is developing an AAV gene therapy approach to elicit long-term expression of SMN1 in motor neurons for the treatment of SMA.
Crigler-Najjar Syndrome (CN) is a rare genetic disorder caused by a defect of the UGT1A1 gene, which encodes the protein responsible for metabolizing bilirubin. The resulting toxic accumulation of bilirubin can cause severe neurological impairment and death. Phototherapy can help manage bilirubin levels, but requires 10-12 hour treatments each day and becomes less effective with age, at which point a liver transplant is required. GTP and Audentes Therapeutics are collaborating to advance AAV8-UGT1A1 (AT342) for the treatment of CN. A phase 1/2, multinational, open-label, ascending-dose, delayed-treatment concurrent control clinical study is planned (VALENS; NCT03223194).