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Agilis Biotherapeutics And Collaboration: Rare Disease Gene Therapies

May 25, 2015



Agilis Biotherapeutics is a biotechnology company focusing on DNA-based therapeutics for rare diseases that affects the Central Nervous System (CNS). The company has formed both academic and corporate collaborations for advancing gene therapies for rare diseases:

•   University of South Florida and Angelman Syndrome

•   Intrexon Corporation and Friedreich’s Ataxia.

I – Angelman Syndrome

Agilis Biotherapeutics announces this month, that it has entered into an exclusive worldwide license agreement with the University of South Florida (USF) for a gene therapy treatment for the rare disease Angelman Syndrome (AS). The gene therapy technology is developed by Edwin Wheeber, PhD, Director of the Neurobiology of Learning and Memory and Chief Scientific Officer at USF’s Health Byrd Alzheimer’s Research Institute.

AS is a genetic disorder causing developmental disabilities and neurological problems. Frequent smiles and outbursts of laughter are common in people with AS; many have happy, excitable personalities. About 1 in 15,000 births are affected and there are currently no treatments. It is caused by the lack of function of a gene, UBE3a.

Per the May 2015 press release, Dr. Weeber commented that:

Angelman Syndrome continues to represent a rare CNS disorder with significant unmet medical need. Our research has demonstrated that restoration of UBE3a function has the potential to address many of the neurological symptoms of AS, and to positively impact the quality of life by addressing Angelman’s CNS manifestations.

II – Friedreich’s Axtaxia

Agilis Biotherapeutics and Intrexon Corporation, a synthetic biology company, announce in December 2013, an Exclusive Channel Collaboration (ECC) to develop DNA-based therapeutics (gene therapies) for the rare genetic neurodegenerative disease, Friedreich’s ataxia (FRDA).

Agilis Biotherapeutics will use Intrexon Corporation’s UltraVector platform and RheoSwitch Therapeutic System (RTS) for developing gene therapy for FRDA. Per the December 2013 press release:

“The goal of the ECC is to develop DNA-based therapeutics to repair or replace the “broken” gene in FRDA and enable increased production of the frataxin protein to alleviate the downstream effects of frataxin deficiency.”

FRDA is first described by Nikolaus Friedreich, a German pathologist, in 1863, and the gene is discovered in 1996. FRDA is a rare genetic condition that affects the nervous system and results in movement problems. Over time, muscle coordination (ataxia) worsens, there is loss of strength and sensation in arms and legs, impaired speech, and spasticity may occur. The disease is caused by mutations in the FXN gene, which provides instructions for making a protein called frataxin. Frataxin is important for the normal function of mitochondria, the energy-producing centers within cells. FRDA affects approximately 1/40,000 people. There are an estimated 5,000 – 10,000 patients in the United States. There is no current FDA approved treatment.


Angelman Syndrome Foundation

Ataxia UK

Foundation for Angelman Syndrome Therapeutics (FAST)

Friedreich’s Ataxia Research Alliance (FARA)

National Ataxia Foundation (NAF).

Please Note: “DNA Repair” courtesy of Tom Ellenberger, Washington University School of Medicine in St. Louis. [Public domain] | Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

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