Our Story: The Search for a Cure

Nor did they find many resources to help them cope afterward. "There was no literature, no treatment being developed, no funding for research…nothing," Helene recalls, frustration still evident in her voice. Roger, an internist, combated his growing sense of helplessness by spending thousands of hours on the phone, exhausting his ties in the medical community to track down "everyone under the sun who had anything to do with genetics." He met with researchers around the country to consider possibilities for developing a treatment.

Finally, in the fall of 1994, Drs. Roger and Helene Karlin met with Dr. Matthew During and Dr. Paola Leone at Yale University and inspired them to attempt to develop a gene therapy approach. Within a year and a half, they had developed a vector system to transport the new genes into brain cells. These new genes were then administered into the ventricles (the area between the brain where spinal fluid flows) of Lindsay and another affected child, Alyssa Mushin.

The gene therapy was performed in Auckland, New Zealand on March 6, 1996 and was the world's first gene therapy for a genetic brain disease. Both children showed remarkable improvements, including increased alertness, improved vision and stronger head control. They had awakened to the world.

News of the research spread quickly: it was featured on “Sixty Minutes” and “The CBS Morning Show” as well as in The New York Times, TIME Magazine, and on the cover of The South China Morning Post (a prominent Asian newspaper), opposite Bob Dole’s bid for the presidency. As more families learned of the research, they, too, joined the cause. The Canavan Research Foundation took on the task of raising funds, of tackling regulatory roadblocks, and of being the champions for their children. After a year and a half of various delays, the same gene therapy, slightly modified, was approved by the FDA in January of 1998 to be used in a second experimental trial at Yale University and Jefferson Medical College. Sixteen children ranging in age from 9 months to 7 years were treated in the first clinical trial for a genetic brain disease in the United States All of the children showed improvement, and the results have been published in various scientific journals. Meanwhile, the research for Canavan Disease was recognized in the Human Genome Exhibit at the Museum of Natural History in New York for its role in advancing gene therapy to cure disease.

The most recent advances have been especially exciting. Impressed with the potential of this research to cure a multitude of diseases, the National Institute of Health awarded Dr. Leone's laboratory the first clinical grant for gene therapy of the brain. Using a new and more potent viral vector, the gene was surgically injected into six areas of the brain in eight Canavan children to disperse throughout the cerebrospinal fluid and take over for the defective gene. Younger children, who can reap the greatest benefit, have recently been enrolled in the trial. Many of the treated children have been monitored, and the parents of each and every child are reporting clinical improvement. Lindsay, now eleven years old, has had no deterioration in the four years since she was last treated and is able to use a specially-equipped bicycle. Another child is able to drive his own powered wheelchair. Researchers expect to use findings from this study to apply to more common diseases such as Parkinson's, Alzheimer's and stroke. In fact, what began in 1995 as a small-scale research effort has evolved into research that may change the face of medicine within the next several years.