Medical Research

Until recently there was no hope for a child battling Canavan disease. Canavan Research Illinois (CRI) was founded with the mission to fund pioneering medical research to treat and cure Canavan diseases. Although fatal, as a rare disease,  Canavan receives limited government funding, and no pharmaceutical industry support.  We rely on private donations and grants to fund life-saving research. 

Because Canavan serves as a model for other neurological diseases, our advancements can also benefit millions suffering from debilitating neurological diseases such as ALS, Parkinson's, Alzheimer's, Multiple Sclerosis, and stroke. Pictured R. Ilyce Randell met with Chairman Regula  to promote bipartisan government awareness of Canavan disease and the need for funding for research to save the children.

We are a major contributor to Dr. Paola Leone's (pictured with Michael and Ilyce Randell) cutting edge medical research to develop a cure and treatments for Canavan Disease.   Dr. Leone is the Director of the Cell & Gene Therapy Center and Associate Professor in the Division of Neurosurgery at UMDNJ-Robert Wood Johnson Medical School, Cooper Health System, a division of Robert Wood Johnson Hospitals, Camden, N.J. Dr. Leone is also the Principal Investigator of the Canavan Gene Therapy protocol using adeno-associated viral vectors. She is an adjunct member of the Coriell Center for Medical Research, and is the leading researcher in the field of gene therapy for Canavan disease (See Canavan Gene Therapy for details).

Stem Cell Trial on the near Horizon:
As a direct result of your generous support, and the generosity of the Silver Foundation, Dr. Paola  Leone and her medical collaborators are nearing completion of providing the FDA with the required safety/efficacy data to gain approval to begin the pioneering medical trial for the children - ‘Stem Cell Therapy for Canavan Disease’.  Dr. Leone is the world’s leading expert in Canavan disease, and this upcoming trial holds the promise to cure Canavan disease as well as impact the treatment of other neurodegenerative diseases, such as Parkinson's, Alzheimer's, Multiple Sclerosis, ALS, Tay-Sachs, and stroke. 

Systemic Therapy:
Equally exciting – Dr. Leone and her team -  are moving closer to developing a systemic therapy to  treat Canavan disease in a manner similar to the way insulin is replaced in diabetics. This approach has presented a great challenge for the treatment of  Canavan disease because the brain has a natural defense system in place, known as the blood-brain barrier, that prevents systemic substances from reaching the brain. Because it would not be medically safe to attempt to repeatedly inject any  replacement therapy directly into the children’s brains -  Dr. Leone’s research for replacement therapy  has concentrated on identifying a method  to bypass  the blood brain barrier to treat the children systemically.  She is advancing to the potential application of what would be the 1st and only approved  treatment  for Canavan disease. This method of delivering a needed replacement substance to the brain  would also provide great benefit to other neurological diseases.

Canavan Research Illinois continue to supports Dr Leone's groundbreaking research to develop a cellular approach to treat and cure Canavan. We have funded the research directed towards Stem Cell Therapy to generate the proof-of-principle evidence in support of the development of a cell-based therapy to cure Canavan. Research supports that the development of a cell source is central to a successful therapeutic development. Previous studies have demonstrated that selection of a subpopulation of oligodendroglial precursor cells can be successfully applied to animal models of dysmyelination to promote remyelination.

Dr.  Leone has recently discovered a previously unidentified and undetected mild form of Canavan disease - a very unique mutation of the disease - two children who were recently diagnosed with this previously unrecognized mutation of the gene - are able to walk and  talk, in spite of the fact that their mutated enzyme is not functional.

These two children are in the less than 1% category of Canavan patients as 99% of all Canavan children are devastated by this disease due to a brain enzyme known as aspartoacylase that is not functional. Dr. Leone believes that the key to the cure for Canavan Disease may possibly lie in this recently discovered unique mutation of the gene. Coupled with her ongoing research in stem cell and gene therapy for Canavan disease, she is currently testing the unique “healthy mutation" in her lab to identify the pathways used by this mutation to overcome the devastating effects of the common mutations in Canavan.

More about Dr. Leone - 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.

We have also funded  Dr. Morris Baslow (a renowned expert in NAA and Canavan disease) at The Center For Neurochemistry. Dr. Baslow is collaborating with researchers at Kyoto University in Japan to develop a non-invasive drug therapy to improve the lives of the children battling Canavan disease. 

In addition, we have  funded Dr. Brian Popko of the University of Chicago. Dr. Popko is the Director of the Jack Miller Center for Peripheral Neuropathy and Associate Chair for Research, Department of Neurology. This grant is co-sponsored by Canavan Research Illinois and Jacob's Cure of New York.  Dr. Popko and his team will study the ASPA deficiency in Canavan disease and help determine how different mutations of the ASPA gene possibly determine the severity of the disease in children of different genetic backgrounds and all his results will be shared with Dr. Paola Leone.

Evan Snyder, M.D., Ph.D. a leading researcher in the field of stem cells at Harvard Institutes of Medicine is also a recipient of our support. 

Dr. Snyder is a world renowned researcher and co-founder of the stem cell field. His work focuses on understanding the mechanisms underlying Canavan disease and other childhood neurodegenerative diseases. 

This research investigates Canavan at a molecular and cellular basis...particularly as programmed into the Central Nervous System at the stem cell level. 

Dr. Snyder is studying the potential treatment of stem-cells in Canavan disease. His work will focus on studying stem cells in Canavan animal models with the goal of treating afflicted Canavan children.