Agilis Biotherapeutics presented a talk at the 2017 Angelman Syndrome Foundation Research Symposium and Family Conference about adeno-associated virus (AAV) mediated strategies for the treatment of Angelman syndrome (AS).
Agilis, the biotech advancing DNA therapeutics for rare genetic diseases that affect the central nervous system (CNS), was also one of the sponsors of the five-day event, which gathered clinicians, scientists, families, and industry representatives in Phoenix, Arizona.
Presenting the talk titled “AAV Mediated Strategies for the Treatment of Angelman syndrome,” was Jodi A. Cook, PhD, chief operating officer of Agilis, and Edwin Weeber, PhD, professor of molecular pharmacology and physiology at the University of South Florida.
The event was organized by the Angelman Syndrome Foundation (ASF), an organization funding research seeking treatments and therapeutic strategies for AS, a rare genetic disorder caused by the deletion/mutation of the UBE3A gene.
UBE3A encodes a protein that plays a critical role in the function of the CNS, meaning the disease affects development, intellectual ability, speech, and other functions, potentially leading to life-time disability and the need for long-term care.
Agilis aims to treat this genetic disease by delivering a corrected copy of UBE3A to the appropriate cells, restoring normal protein production. In collaboration with Weeber at the University of South Florida, the company is working to refine the DNA sequence and to establish the best vector to deliver the sequence to key cells of the CNS.
“We continue to build an enabling data set in support of the use of gene therapy for the treatment of Angelman syndrome. Our on-going relationship with Agilis has progressed this science greatly as we continue to work toward a potential treatment for these families,” Weeber, who is also Agilis’ primary collaborator on Angelman syndrome, said in a press release.
Agilis also helped organize the Angelman Biomarker and Outcome Measures (A-BOM) meeting.
“As a patient-focused, clinical-stage company, Agilis believes strongly that collaboration with clinicians, scientists, and families in the Angelman syndrome community will be instrumental to achieving our shared goal of developing new therapeutic approaches to Angelman syndrome, including the possibility of using gene therapy as a durable treatment option,” co-presenter Cook said.
According to the National Organization for Rare Diseases (NORD), Angelman’s affects males and females equally. The prevalence of Angelman syndrome is estimated to be approximately one in 12,000 to 20,000 people in the general population. Because so many cases go undiagnosed, it is difficult to make more accurate estimations, NORD explains.