With New Spotlight on Batten Disease – Can Gene Therapy Provide an Answer? Print
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Wednesday, 08 July 2015 20:15
Featured Expert, Dr. Tammy Kielian, Ph.D Professor Dept. Pathology & Microbiology. U. Nebraska Medical Center
Media reports tied to famous faces in Hollywood are shedding new light on the inherited genetic disorder, juvenile Batten disease, a lysosomal storage disease that primarily affects the nervous system in children. After a few years of normal development, children with this condition experience progressive vision loss leading to blindness, intellectual and motor disability, speech difficulties, seizures, and premature death. As yet, there are no treatments available that can halt or reverse the symptoms of Batten disease.
   
One approach being worked on by Abeona Therapeutics is AAV Gene therapy. The initial and ongoing research on AAV Gene Therapy is led by Tammy Kielian, Ph.D., and her colleagues at Professor Dept. Pathology & Microbiology. U. Nebraska Medical Center (UNMC). According to Dr. Kielian, there are no treatments available that can halt or reverse the symptoms of children with juvenile Batten disease, but earlier studies using AAV gene therapy at UNMC have demonstrated significant and promising results in animal models of the disease. Working with Abeona, as well as the dedicated juvenile Batten disease community of patients and their families, the goal of AAV this therapy is to go into clinical trials. Abeona is also developing AAV gene therapies for the treatment of Sanfilippo syndromes (MPS IIIA and MPS IIIB). 
   
In the following expert video: https://vimeo.com/132321433, Dr. Kielian explains how AAV gene therapy targets what she believes to be deleterious inflammation in the brain and in the cells that support the neurons. By replacing those damaged cells by crossing the blood/brain barrier that could prolong the survival of the neurons.
   
Dr. Kielian can address the following: 
• What is Batten disease? And how is juvenile Batten disease (JBD) unique?
• What treatment options to these patients currently have?
• What is gene therapy and why is ABO-201 (scAAV9 CLN3) a promising approach to treat JBD?
• Can you discuss the results demonstrated to date?
• How would AB0-201 gene therapy be delivered to patients? Does it cross the blood brain barrier?
• How does your partnership with Abeona Therapeutics advance development?
• What is next for AB0-201 for juvenile Batten disease?
   
About Juvenile Batten Disease:
   
Juvenile Batten disease (JBD) is a rare, fatal, autosomal recessive (inherited) disorder of the nervous system that typically begins in children between 4 and 8 years of age. Often the first noticeable sign of JBD is vision impairment, which tends to progress rapidly and
eventually result in blindness. As the disease progresses, children experience the loss of previously acquired skills (developmental regression). This progression usually begins with the loss of the ability to speak in complete sentences. Children then lose motor skills, such as the ability to walk or sit. They also develop movement abnormalities that include rigidity or stiffness, slow or diminished movements (hypokinesia), and stooped posture. Beginning in mid to late childhood, affected children may have recurrent seizures (epilepsy), heart problems, behavioral problems, and difficulty sleeping. Life expectancy is greatly reduced. Most people with juvenile Batten disease live into their twenties or thirties. As yet, no specific treatment is known that can halt or reverse the symptoms of juvenile Batten disease.
    
Juvenile Batten disease is the most common form of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). Collectively, all forms of NCL affect an estimated 2 to 4 in 100,000 live births in the United States. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected; as well as Sweden, other parts of northern Europe, and Newfoundland, Canada.
    
Most cases of juvenile Batten disease are caused by mutations in the CLN3 gene, which is the focus of our AAV-based gene therapy approach. These mutations disrupt the function of cellular structures called lysosomes. Lysosomes are compartments in the cell that normally digest and

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recycle different types of molecules. Lysosome malfunction leads to a buildup of fatty substances called lipopigments and
proteins within these cell structures. These accumulations occur in cells throughout the body, but neurons in the brain seem to be particularly vulnerable to damage. The progressive death of cells, especially in the brain, leads to vision loss, seizures, and intellectual decline in children with juvenile Batten disease.
   
About Abeona Therapeutics: 
   
Abeona (pronounced ey-bee-ohn-uh) is focused on developing and delivering gene therapy and plasma-based products for severe and life-threatening rare diseases. Abeona's lead program is an adeno-associated virus (AAV)-based gene therapy for Sanfilippo syndrome (MPS IIIA and IIIB) in collaboration with patient advocate groups, researchers and clinicians. Clinical trials for Sanfilippo types A and B are anticipated to begin in 2015. The Company recently licensed an AAV-based gene therapy program in juvenile Batten disease (JBD) from the University of Nebraska Medical Center; and licensed an AAV-based gene therapy program for Fanconi anemia (FA) disorder and other rare blood diseases using CRISPR/Cas9 gene editing from the University of Minnesota. In addition, the company is pursuing two additional proprietary platforms, Salt Diafiltration (SDF(TM)) Process and Polymer Hydrogel Technology (PHT(TM)), and is active in the development and commercialization of human plasma-derived therapeutics, including its proprietary alpha-1 protease inhibitor, SDF Alpha(TM). For more information, visit www.abeonatherapeutics.com.
   
About University of Nebraska Medical Center: 
   
UNMC, with its clinical partner, Nebraska Medicine, is a leading academic medical center, perhaps best known for its treatment, at the request of the U.S. State Department, of three Ebola patients. It also is a world leader in solid organ transplants, in the development of antimalarial vaccines and is the future home of the state-of-the-art Fred & Pamela Buffett Cancer Center. A national leader in primary care education, UNMC is known for its innovative use of the latest experiential technology in training the next generation of health care professionals. With Nebraska Medicine, UNMC is dedicated to leading the world in transforming lives to create a healthy future for all individuals and communities through premier educational programs, innovative research and extraordinary patient care.
    
About UNeMed Corporation: 
   
UNeMed Corporation is the technology transfer and commercialization office (TTO) for the University of Nebraska Medical Center. UNeMed serves all UNMC researchers, faculty and staff who develop new biomedical technology and programs, information regarding the future performance of the combined company, the outlook on medical needs, future pipeline expectations, management plans for the Company, the anticipated closing of the inventions, and strives to help bring those innovations to the marketplace.



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