Welcome!

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. www.CureFA.org

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

Contact:
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
The dynamic nature of the cloud means that change is a constant when it comes to modern cloud-based infrastructure. Delivering modern applications to end users, therefore, is a constantly shifting challenge. Delivery automation helps IT Ops teams ensure that apps are providing an optimal end user experience over hybrid-cloud and multi-cloud environments, no matter what the current state of the infrastructure is. To employ a delivery automation strategy that reflects your business rules, making r...
Kubernetes is an open source system for automating deployment, scaling, and management of containerized applications. Kubernetes was originally built by Google, leveraging years of experience with managing container workloads, and is now a Cloud Native Compute Foundation (CNCF) project. Kubernetes has been widely adopted by the community, supported on all major public and private cloud providers, and is gaining rapid adoption in enterprises. However, Kubernetes may seem intimidating and complex ...
Modern software design has fundamentally changed how we manage applications, causing many to turn to containers as the new virtual machine for resource management. As container adoption grows beyond stateless applications to stateful workloads, the need for persistent storage is foundational - something customers routinely cite as a top pain point. In his session at @DevOpsSummit at 21st Cloud Expo, Bill Borsari, Head of Systems Engineering at Datera, explored how organizations can reap the bene...
In a recent survey, Sumo Logic surveyed 1,500 customers who employ cloud services such as Amazon Web Services (AWS), Microsoft Azure, and Google Cloud Platform (GCP). According to the survey, a quarter of the respondents have already deployed Docker containers and nearly as many (23 percent) are employing the AWS Lambda serverless computing framework. It’s clear: serverless is here to stay. The adoption does come with some needed changes, within both application development and operations. Tha...
In his session at 21st Cloud Expo, Michael Burley, a Senior Business Development Executive in IT Services at NetApp, described how NetApp designed a three-year program of work to migrate 25PB of a major telco's enterprise data to a new STaaS platform, and then secured a long-term contract to manage and operate the platform. This significant program blended the best of NetApp’s solutions and services capabilities to enable this telco’s successful adoption of private cloud storage and launching ...
In his general session at 21st Cloud Expo, Greg Dumas, Calligo’s Vice President and G.M. of US operations, discussed the new Global Data Protection Regulation and how Calligo can help business stay compliant in digitally globalized world. Greg Dumas is Calligo's Vice President and G.M. of US operations. Calligo is an established service provider that provides an innovative platform for trusted cloud solutions. Calligo’s customers are typically most concerned about GDPR compliance, application p...
The past few years have brought a sea change in the way applications are architected, developed, and consumed—increasing both the complexity of testing and the business impact of software failures. How can software testing professionals keep pace with modern application delivery, given the trends that impact both architectures (cloud, microservices, and APIs) and processes (DevOps, agile, and continuous delivery)? This is where continuous testing comes in. D
The 22nd International Cloud Expo | 1st DXWorld Expo has announced that its Call for Papers is open. Cloud Expo | DXWorld Expo, to be held June 5-7, 2018, at the Javits Center in New York, NY, brings together Cloud Computing, Digital Transformation, Big Data, Internet of Things, DevOps, Machine Learning and WebRTC to one location. With cloud computing driving a higher percentage of enterprise IT budgets every year, it becomes increasingly important to plant your flag in this fast-expanding busin...
Smart cities have the potential to change our lives at so many levels for citizens: less pollution, reduced parking obstacles, better health, education and more energy savings. Real-time data streaming and the Internet of Things (IoT) possess the power to turn this vision into a reality. However, most organizations today are building their data infrastructure to focus solely on addressing immediate business needs vs. a platform capable of quickly adapting emerging technologies to address future ...
SYS-CON Events announced today that Synametrics Technologies will exhibit at SYS-CON's 22nd International Cloud Expo®, which will take place on June 5-7, 2018, at the Javits Center in New York, NY. Synametrics Technologies is a privately held company based in Plainsboro, New Jersey that has been providing solutions for the developer community since 1997. Based on the success of its initial product offerings such as WinSQL, Xeams, SynaMan and Syncrify, Synametrics continues to create and hone in...
You know you need the cloud, but you’re hesitant to simply dump everything at Amazon since you know that not all workloads are suitable for cloud. You know that you want the kind of ease of use and scalability that you get with public cloud, but your applications are architected in a way that makes the public cloud a non-starter. You’re looking at private cloud solutions based on hyperconverged infrastructure, but you’re concerned with the limits inherent in those technologies.
Nordstrom is transforming the way that they do business and the cloud is the key to enabling speed and hyper personalized customer experiences. In his session at 21st Cloud Expo, Ken Schow, VP of Engineering at Nordstrom, discussed some of the key learnings and common pitfalls of large enterprises moving to the cloud. This includes strategies around choosing a cloud provider(s), architecture, and lessons learned. In addition, he covered some of the best practices for structured team migration an...
No hype cycles or predictions of a gazillion things here. IoT is here. You get it. You know your business and have great ideas for a business transformation strategy. What comes next? Time to make it happen. In his session at @ThingsExpo, Jay Mason, an Associate Partner of Analytics, IoT & Cybersecurity at M&S Consulting, presented a step-by-step plan to develop your technology implementation strategy. He also discussed the evaluation of communication standards and IoT messaging protocols, data...
With tough new regulations coming to Europe on data privacy in May 2018, Calligo will explain why in reality the effect is global and transforms how you consider critical data. EU GDPR fundamentally rewrites the rules for cloud, Big Data and IoT. In his session at 21st Cloud Expo, Adam Ryan, Vice President and General Manager EMEA at Calligo, examined the regulations and provided insight on how it affects technology, challenges the established rules and will usher in new levels of diligence arou...
Most technology leaders, contemporary and from the hardware era, are reshaping their businesses to do software. They hope to capture value from emerging technologies such as IoT, SDN, and AI. Ultimately, irrespective of the vertical, it is about deriving value from independent software applications participating in an ecosystem as one comprehensive solution. In his session at @ThingsExpo, Kausik Sridhar, founder and CTO of Pulzze Systems, discussed how given the magnitude of today's application ...