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Current Research |
Gene Therapy
The most recent advances have been especially exciting. The first clinical trial
partially funded and approved by the Food and Drug Administration (FDA) and
the National Institute of Health (NIH), in which a new and more potent viral
vector is being used to transport the genes into the brains of Canavan children,
is ongoing at the Robert Wood Johnson Medical Center. Many of the children have
been monitored, and the parents of each and every child are reporting clinical improvement,
as supported by MRI and MR spectroscopy scans. Lindsay Karlin, now eleven years old and
the first child treated in the first trial in 1996, has shown no deterioration since
receiving the latest gene vector. Researchers expect to use the findings from this study
to apply to research for other, more common diseases, including Parkinson's Disease,
Alzheimer's Disease, multiple sclerosis and stroke.
Stem Cell Therapy
The Canavan Research Foundation is also supporting stem cell therapy, the
transplantation of normal
neural stem cells into the brain. Stem cells have the potential to develop into
any type of cell, and the research teams that we are supporting are currently
developing stem cells that will take over for the faulty cells in the brains of
Canavan children and produce the enzyme that the children lack. We are focused on
identifying and supporting researchers who demonstrate the greatest potential to bring
their work to clinical trial in the next two years. Stem cell
therapy may also hold the key to curing a host of other diseases, including genetic and degenerative
diseases, stroke and traumatic brain and spinal cord injury.
Our objective is to speed up research through private funding so that it may become
available as quickly as possible to those who need it, adults and children like Lindsay whose
time is running out.
Scientific Researchers
Paola Leone, Ph.D.
University of Medicine & Dentistry of New Jersey / Robert Wood Johnson Medical School, Director of the Cell & Gene Therapy Center and Associate Professor, Neurosurgery;
Coriell Center for Medical Research, Adjunct Member
Following post-doctoral studies in Montreal, Dr. Leone was an Associate Research
Scientist at Yale University from 1996-1998. From 1998-2001, she was Associate
Director of the CNS Gene Therapy Center at Jefferson Medical College and an
Assistant Professor in the Department of Neurosurgery. Dr. Leone has been
responsible for the development and characterization of viral (AAV, adenovirus,
retrovirus) and non-viral vectors for the treatment of Canavan Disease and other
disorders. At Yale and Thomas Jefferson Universities, she was the IND/FDA
sponsor of two separate “Gene Therapy for Canavan Disease” studies.
Dr. Leone is currently Principal Investigator on the Canavan gene therapy
protocol using adeno-associated viral vectors. Her laboratory is conducting in-vivo
studies of both viral vectors and stem cells and their use in neural
transplantation for therapeutic applications on a variety of neurodegenerative
disorders, brain and spinal injuries and stroke. She also leads investigations
on pharmacological, genetic and stem cell therapies on animal models of
Canavan Disease, Amyotrophic Lateral Sclerosis, Parkinson's Disease, Tay Sach's
Disease and other neurological disorders. For more information on the research initiatives
led by Dr. Leone, please click here for the Cell & Gene Therapy Center.
Please click the links below for scientific abstracts published by Dr. Leone and her team.
Janson et. al. "Lithium Citrate for Canavan Disease." Pediatric Neurology (15 Apr 2005). 33(4):235-243.
Janson et. al. "Gene Therapy of Canavan Disease: AAV-2 Vector for Neurosurgical Delivery of
Aspartoascylase Gene (ASPA) to the Human Brain." Human Gene Therapy (20 Jul 2002). 13:1391-1412.
Leone et. al. "Aspartoascylase Gene Transfer to the Mammalian Central Nervous System with Therapeutic
Implications for Canavan Disease." Annals of Neurology (2000). 48(1):27-38.
Leone et. al. "Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan Disease."
Current Opinion in Molecular Therapeutics (1999). 1(4):487-492.
McPhee et. al. "Effects of AAV-2-mediated aspartoascylase gene transfer in the tremor rat model
of Canavan disease." Molecular Brain Research (2005). 134:112-121.
Tavazzi et. al. "Simultaneous high performance liquid chromatographic separation of purines, pyrimidines,
N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism."
Clinical Biochemistry (4 Aug 2005).
Evan Y. Snyder, M.D., Ph.D.
Harvard Medical School, Professor of Pediatrics, Pediatric Neurology, Neonatology; Director, Stem Cells and Regeneration Program,
The Burnham Institute
Dr. Snyder is the world-renowned leading researcher and co-founder of the
stem cell field. His work focuses on understanding the mechanisms underlying
Canavan disease and other childhood neurodegenerative diseases. Dr. Snyder's work
investigates Canavan at a molecular and cellular basis - particularly as
programmed into the central nervous system at the stem cell level. Dr. Snyder's
work focuses on studying implanted stem cells in Canavan animal models with the goal of
treating afflicted Canavan children. For more information on the research initiatives
led by Dr. Snyder as well as scientific literature published by his team, please click
here for the Synder Lab at the Burnham Institute.
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