Click here to close now.


News Feed Item

International collaboration advances gene therapy for Friedreich's ataxia

AAVLife aimed at advancing gene therapy for cardiomyopathy in Friedreich's ataxia to clinic

DOWNINGTOWN, Pa., April 6, 2014 /PRNewswire-USNewswire/ -- The Friedreich's Ataxia Research Alliance (FARA) is pleased to recognize the ground-breaking gene-therapy research of FARA-funded scientist Dr. Hélène Puccio. In the current online issue of Nature Medicine, Dr. Puccio and her colleagues present significant results demonstrating that gene-replacement therapy using an adeno-associated virus to deliver the frataxin gene prevented and corrected cardiac damage in a Friedreich's Ataxia (FA) mouse model.1 Based on these exciting and compelling results, a new company, AAVLife, has been founded with a clear commitment to the rapid development of a gene-therapy program focused on treating the life-threatening cardiac condition suffered by FA patients.2 FARA has been collaborating closely with the founders of AAVLife since the middle of 2013 and with Dr. Puccio since FARA was first established in 1998.

Dr. Puccio, a research director at the French Institute of Health and Medical Research (INSERM), has been testing this gene-therapy approach in the cardiac FA mouse model that she developed in her lab at the Institut de Génétique Moléculaire et Cellulaire. The results show that a single intravenous injection of AAVrh10 expressing frataxin is not only capable of preventing the development of heart disease in the mouse, but also, fully and rapidly treats the mice with advanced stages of heart disease, returning the heart to normal function.

FA is a rare inherited condition that presents in early childhood with neurological symptoms, specifically loss of balance and coordination. However, it is progressive, leads to loss of the ability to walk and affects many other organs including heart, skeletal muscle and pancreas. The primary cause of early death, in the early 20's-30's, is a severe heart condition, cardiomyopathy.

FA is an excellent candidate for gene therapy because it is caused by a mutation in a single gene. Furthermore, this mutation is not in a coding region of the frataxin gene that codes for the frataxin protein. This means that, in individuals with FA, the frataxin protein is in short supply but is perfectly formed and functional. Therefore, these individuals do not have to battle an abnormal protein and, if gene therapy can supplement the native gene with a new, correct gene that produces additional frataxin, the body should recognize the needed frataxin, should not mount an immune response to the supplemental frataxin protein, and should benefit significantly from a more normal supply of this important protein.

FARA's Scientific Advisory Board and Board of Directors have recognized that gene-therapy approaches would provide the opportunity for profound therapeutic benefit, and this area of research is a priority for the organization. Jennifer Farmer, Executive Director of FARA states, "When we first learned of Dr. Puccio's results and saw that she was demonstrating prevention and correction of the cardiomyopathy at both the functional and cellular levels we were beyond excited because this gave us evidence that we could attack the cardiomyopathy, which takes an individual's life at an early age. While we also want to have therapies that treat the neurological aspects of the disease, the significance of the cardiac disease is often under appreciated."

Mary Caruso, a founding director of FARA and mother of two young women with FA, remarks "my girls have graduated from college and are pursuing productive lives in society despite significant physical disability. This is not easy. However, what scares me more than anything else is that the heart disease can advance at any time. My younger daughter, Alex has been rushed to the ER several times for heart symptoms and we watch her so closely. Results demonstrating cardiac improvement for FA strengthens the hope that so many families have been waiting and working for. It is the dedication of wonderful researchers like Dr. Puccio that keep our hope alive."

Ron Bartek, FARA President and co-founder added, "The launch of AAVLife and Dr. Puccio's tremendous achievement reported in Nature Medicine represent an exciting new opportunity for the FA community that comes from our international partnership. Dr. Puccio's research was funded by public agencies in France, Europe and the United States and AAVLife is bringing together international expertise and resources. This partnership is essential when we are battling a rare disease like FA. We are thrilled with the progress Dr. Puccio and her colleagues continue to make and are deeply heartened by the commitment of AAVLife. We know the company not only possesses sound business leadership and first-rate scientific talent but also works with the urgency felt by patients and their families. FARA will continue working closely with AAVLife, FA scientists and the patient community as, together, we drive this promising therapeutic approach forward into the clinic."

About FA
Friedreich's ataxia is a rare, degenerative, life-shortening neuro-muscular disorder that affects children and adults, and involves the loss of strength and coordination usually leading to wheelchair use; diminished vision, hearing and speech; scoliosis (curvature of the spine); increased risk of diabetes; and a life-threatening heart condition. There are no FDA-approved treatments.

About FARA
The Friedreich's Ataxia Research Alliance (FARA) is a 501(c)(3), non-profit, charitable organization dedicated to accelerating research leading to treatments and a cure for Friedreich's ataxia.

1The DOI for the paper as it appears online is 10.1038/nm.3510.
2AAVLife –

Jennifer Farmer
Executive Director, Friedreich's Ataxia Research Alliance
(484) 879 6160
[email protected]

SOURCE Friedreich's Ataxia Research Alliance

More Stories By PR Newswire

Copyright © 2007 PR Newswire. All rights reserved. Republication or redistribution of PRNewswire content is expressly prohibited without the prior written consent of PRNewswire. PRNewswire shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon.

Latest Stories
SYS-CON Events announced today that G2G3 will exhibit at SYS-CON's @DevOpsSummit Silicon Valley, which will take place on November 3–5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. Based on a collective appreciation for user experience, design, and technology, G2G3 is uniquely qualified and motivated to redefine how organizations and people engage in an increasingly digital world.
As-a-service models offer huge opportunities, but also complicate security. It may seem that the easiest way to migrate to a new architectural model is to let others, experts in their field, do the work. This has given rise to many as-a-service models throughout the industry and across the entire technology stack, from software to infrastructure. While this has unlocked huge opportunities to accelerate the deployment of new capabilities or increase economic efficiencies within an organization, i...
Recently announced Azure Data Lake addresses the big data 3V challenges; volume, velocity and variety. It is one more storage feature in addition to blobs and SQL Azure database. Azure Data Lake (should have been Azure Data Ocean IMHO) is really omnipotent. Just look at the key capabilities of Azure Data Lake:
When it comes to IoT in the enterprise, namely the commercial building and hospitality markets, a benefit not getting the attention it deserves is energy efficiency, and IoT’s direct impact on a cleaner, greener environment when installed in smart buildings. Until now clean technology was offered piecemeal and led with point solutions that require significant systems integration to orchestrate and deploy. There didn't exist a 'top down' approach that can manage and monitor the way a Smart Buildi...
“All our customers are looking at the cloud ecosystem as an important part of their overall product strategy. Some see it evolve as a multi-cloud / hybrid cloud strategy, while others are embracing all forms of cloud offerings like PaaS, IaaS and SaaS in their solutions,” noted Suhas Joshi, Vice President – Technology, at Harbinger Group, in this exclusive Q&A with Cloud Expo Conference Chair Roger Strukhoff.
In his session at @ThingsExpo, Tony Shan, Chief Architect at CTS, will explore the synergy of Big Data and IoT. First he will take a closer look at the Internet of Things and Big Data individually, in terms of what, which, why, where, when, who, how and how much. Then he will explore the relationship between IoT and Big Data. Specifically, he will drill down to how the 4Vs aspects intersect with IoT: Volume, Variety, Velocity and Value. In turn, Tony will analyze how the key components of IoT ...
Scott Guthrie's keynote presentation "Journey to the intelligent cloud" is a must view video. This is from AzureCon 2015, September 29, 2015 I have reproduced some screen shots in case you are unable to view this long video for one reason or another. One of the highlights is 3 datacenters coming on line in India.
“The Internet of Things transforms the way organizations leverage machine data and gain insights from it,” noted Splunk’s CTO Snehal Antani, as Splunk announced accelerated momentum in Industrial Data and the IoT. The trend is driven by Splunk’s continued investment in its products and partner ecosystem as well as the creativity of customers and the flexibility to deploy Splunk IoT solutions as software, cloud services or in a hybrid environment. Customers are using Splunk® solutions to collect ...
SYS-CON Events announced today that ProfitBricks, the provider of painless cloud infrastructure, will exhibit at SYS-CON's 17th International Cloud Expo®, which will take place on November 3–5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. ProfitBricks is the IaaS provider that offers a painless cloud experience for all IT users, with no learning curve. ProfitBricks boasts flexible cloud servers and networking, an integrated Data Center Designer tool for visual control over the...
You have your devices and your data, but what about the rest of your Internet of Things story? Two popular classes of technologies that nicely handle the Big Data analytics for Internet of Things are Apache Hadoop and NoSQL. Hadoop is designed for parallelizing analytical work across many servers and is ideal for the massive data volumes you create with IoT devices. NoSQL databases such as Apache HBase are ideal for storing and retrieving IoT data as “time series data.”
Clearly the way forward is to move to cloud be it bare metal, VMs or containers. One aspect of the current public clouds that is slowing this cloud migration is cloud lock-in. Every cloud vendor is trying to make it very difficult to move out once a customer has chosen their cloud. In his session at 17th Cloud Expo, Naveen Nimmu, CEO of Clouber, Inc., will advocate that making the inter-cloud migration as simple as changing airlines would help the entire industry to quickly adopt the cloud wit...
As the world moves towards more DevOps and microservices, application deployment to the cloud ought to become a lot simpler. The microservices architecture, which is the basis of many new age distributed systems such as OpenStack, NetFlix and so on, is at the heart of Cloud Foundry - a complete developer-oriented Platform as a Service (PaaS) that is IaaS agnostic and supports vCloud, OpenStack and AWS. In his session at 17th Cloud Expo, Raghavan "Rags" Srinivas, an Architect/Developer Evangeli...
DevOps is gaining traction in the federal government – and for good reasons. Heightened user expectations are pushing IT organizations to accelerate application development and support more innovation. At the same time, budgetary constraints require that agencies find ways to decrease the cost of developing, maintaining, and running applications. IT now faces a daunting task: do more and react faster than ever before – all with fewer resources.
SYS-CON Events announced today that VividCortex, the monitoring solution for the modern data system, will exhibit at the 17th International Cloud Expo®, which will take place on November 3–5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. The database is the heart of most applications, but it’s also the part that’s hardest to scale, monitor, and optimize even as it’s growing 50% year over year. VividCortex is the first unified suite of database monitoring tools specifically desi...
Organizations already struggle with the simple collection of data resulting from the proliferation of IoT, lacking the right infrastructure to manage it. They can't only rely on the cloud to collect and utilize this data because many applications still require dedicated infrastructure for security, redundancy, performance, etc. In his session at 17th Cloud Expo, Emil Sayegh, CEO of Codero Hosting, will discuss how in order to resolve the inherent issues, companies need to combine dedicated a...