AAVLife, a gene-therapy company focusing on rare diseases, today announced that it has raised $12 million in Series A financing to advance into clinical studies the promising work on Friedreich's ataxia recently reported in Nature Medicine.

Versant Ventures, an international life-sciences venture-capital firm, led the financing round with participation from Inserm Transfert Initiative, a French seed-investment firm linked to the French National Institute of Health and Medical Research (Inserm).

'Gene therapy is making great strides, with recent findings showing the potential to significantly improve the lives of patients with genetic diseases,' said Thomas Woiwode Ph.D., a Venture Partner at Versant. 'At AAVLife we have assembled a world-class team focused on driving this program into the clinic to bring true benefit to patients with Friedreich's ataxia.'

Matthieu Coutet, Managing Partner at Inserm Transfert Initiative, said, 'We are privileged to have early access to exciting research at Inserm and see a compelling need to transition the Friedreich's ataxia program from the laboratory to the bedside.'

Friedreich's ataxia is caused by a mutation in the frataxin gene, which results in progressive neurologic and cardiac symptoms typically first appearing in childhood or during the teenage years. Progressive degradation of cardiac function accounts for the majority of deaths from this disease. There are no approved therapies.

The research paper in Nature Medicine reported the successful use of a gene-therapy approach in a mouse model developed by deleting the frataxin gene. The authors report that these mice develop the same progressive degradation of cardiac function, and that delivery of a normal frataxin gene using an adeno-associated virus (AAV) completely restored normal cardiac function and reversed pathological heart enlargement in mice that had already progressed to heart failure.

AAVLife has already advanced research of this gene-therapy approach into further preclinical studies to inform decisions about dosing and route of administration to be used in a clinical trial. The company will be conferring with regulatory authorities about toxicity-study requirements and clinical-trial design. The goal is to commence a clinical trial in 2015 to evaluate gene therapy for the cardiac dysfunction associated with Friedreich's ataxia.

'Friedreich's ataxia may be a rare disorder, but it is an all too common feature of everyday life for patients and their families,' said Amber Salzman, Ph.D., a co-founder and the Chief Executive Officer of AAVLife. 'We are moving with appropriate care but also urgency.'

The founders of AAVLife have already played prominent and various roles in bringing gene therapy into clinical use:

-- Patrick Aubourg, M.D. Ph.D, Head of Neuropediatrics at Hôpital Bicêtre Paris Sud. Dr. Aubourg led the first clinical trial to use gene therapy in the treatment of adrenoleukodystrophy (ALD), a genetic disorder that can result in fatal neurodegeneration. He and his research group won the 2010 Grand Prix scientific award of the Simone and Cino del Duca Foundation for their discoveries in the field of genetic diseases of the central nervous system.

-- Pierre Bougnères, M.D., Ph.D., Head of Pediatric Endocrinology at Hôpital Bicêtre Paris Sud. With Dr. Aubourg, Dr. Bougnères developed and performed the ALD trial.

-- Ronald Crystal, M.D., Chairman of Genetic Medicine and Professor of Internal Medicine at Weill Cornell Medical College, New York. Dr. Crystal leads the research group that first used a recombinant virus as a vehicle for in vivo gene therapy. The group has carried out human trials of gene therapy for cystic fibrosis, cardiac ischemia, cancer, and central-nervous-system disorders. This year the peer-reviewed journal Human Gene Therapy presented Dr. Crystal its Pioneer Award in recognition of his seminal work on adenoviral vectors.

-- Hélène Puccio, Ph.D., Head of a research team at the Institute of Genetics and Molecular and Cellular Biology, University of Strasbourg, France. Dr. Puccio has concentrated her research on the pathophysiological mechanisms involved in ataxias such as Friedreich's ataxia. She is the lead author on the paper in Nature Medicine.

-- Amber Salzman, Ph.D., Chief Executive Officer. Dr. Salzman, a mathematician by training, served as a member of the R&D executive team at GlaxoSmtihKline, where she planned and managed drug-development projects and clinical trials comprising over 30,000 patients worldwide. Subsequently, she led Cardiokine Inc. as CEO prior to its acquisition by Cornerstone Therapeutics. She is the president of the Stop ALD Foundation, a patient-advocacy group driving forward improved ALD therapy. She played a key role in bringing about the initial ALD gene-therapy trial.

About Friedreich's ataxia

Friedreich's ataxia affects 10,000 to 20,000 people in the United States and Europe. Symptoms usually appear early in life, between ages 5 and 15, though they may be delayed until adulthood. An early symptom is loss of control of body movements (ataxia), often starting with difficulty in walking, then spreading to the upper limbs and trunk. The nervous-system damage is often accompanied by heart damage. Cardiac symptoms may include enlargement of the heart, fibrosis of heart tissue, and heart-rhythm abnormalities. Friedreich's ataxia is caused by a mutation in a gene termed FXN. The mutation limits production of the protein encoded by FXN, called frataxin, which is essential to normal function of mitochondria, the 'energy factories' of the cell. The disorder is autosomal recessive, meaning that it arises when a person has inherited two copies of the mutated gene, one from each parent.

About AAVLife

AAVLife, registered in Paris, is a privately held company dedicated to advancing gene therapy for rare diseases. Further information is available at www.aavlife.com.

About Versant

Versant Ventures is a leading venture capital firm that specializes in investment in innovative, groundbreaking bio-pharmaceuticals, medical devices, and other life science opportunity. Founded in 1999, the firm consists of an experienced team committed to helping entrepreneurs build successful companies that impact healthcare and improve quality of life. In addition to an industry-leading biotech-focused team in Basel, Switzerland and the San Francisco Bay Area, Versant has a presence in two other geographic locations of Southern California and Minnesota. Further information is available at www.versantventures.com.

About Inserm Transfert Initiative

Inserm Transfert Initiative is a life-sciences seed-investment firm based in Paris, France, linked to the French National Institute of Health and Medical Research (Inserm). Inserm Transfert Initiative focuses its investments in companies coming from public research laboratories. Inserm Transfert Initiative managed €39M and is supported by Inserm, BPI France (through the FNA funds), top-tier pharmaceutical companies and an insurance company. Inserm Transfert Initiative has invested in over 20 companies since 2001. For more information please visit: www.it-initiative.fr.