Friedreich’s Ataxia: A Collaboration And Gene Therapy

Agilis Biotherapeutics, a biotechnology company focusing on DNA-based therapeutics for rare diseases, and Intrexon Corporation, a synthetic biology company, announce on December 31st, an Exclusive Channel Collaboration (ECC) to develop DNA-based therapeutics (gene therapies) for the rare genetic neurodegenerative disease, Friedreich’s ataxia (FRDA).

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.

Agilis Biotherapeutics will use Intrexon Corporation’s UltraVector platform and RheoSwitch Therapeutic System (RTS) for developing “gene therapies and genetically-modified cell therapies for treating FRDA … 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.”

Other Agilis Biotherapeutics news:

• On December 31st, the company completes an $8 million financing that will be used to develop a treatment for FRDA in collaboration with Intrexon Corporation

• On December 31st, George S. Zorich is named CEO of the company.

Two great journal articles on the discovery of FRDA and the historical work of Nikolaus Friedreich are available FREE:

Jorg B. Schulz and Massimo Pandolfo. 150 years of Friedreich Ataxia: from its discovery to therapy. Journal of Neurochemistry. 2013 Aug; 126 Suppl 1: 1-3.

Arnulf H. Koeppen. Nikolaus Friedreich and degenerative atrophy of the dorsal columns of the spinal cord. Journal of Neurochemistry. 2013 Aug; 126 Suppl 1: 4-10.

Thanks for posting this Alan.


All I can say is WOW! My heart breaks for all when a doc says not much we can do for you. It is wonderful to see scientists/ doctors studying to understand these issues, so often studies are not done because of the money issue…brovo

I am a bit mixed up about this. Are they saying they are putting more money into research or that they have actually developed treatment

Punk, I had to read this several times! It’s good news as far as research is concerned
but it looks like the financing was only put in place on December 31 2013.
Although, because it says there is no current FDA approved treatment, it does lead you
to speculate what are the treatments, if they actually are available?
Sorry, this got a bit long-winded! xB

thanks Beryl, but I am still confused as to weather I should be jumping up and down or just mildly pleased. A treatment or on the verge of treatment for any of the ataxias would be great

Thanks, Alan! ;o)