Jacob’s Cure is a 501c3 non-profit foundation dedicated to raising the funds necessary to cure Canavan disease, a fatal genetic brain disorder that affects children at birth. Because of an enzyme deficiency, an acid in the brain accumulates to dangerous levels causing catastrophic effects to the normal formation of myelin (white matter) in the brain that is responsible for transmitting nerve impulses from one part of the body to another. It is the lack of white matter that leaves Canavan children incapable of performing the simplest functions. Even if they live to their full life expectancy – 3 to 10 years untreated – they become blind, paralyzed, prone to seizures and increasingly lost to the world around them.

Approximately 200 children per year are diagnosed with Canavan Disease. While Canavan is rare by disease standards (measured as fewer than 100,000 people,) Canavan is quite large when measured by the number of people that will benefit from the cutting edge research funded by Jacob’s Cure.

Since its inception in September, 2000, Jacob’s Cure proudly allocates monies raised to research in gene-therapy, stem cell transplantation, pharmacological approaches and basic science in understanding the disease. Our efforts to date have resulted in successful gene therapy trials and pharmaceutical interventions that have stopped or halted the progression of this quickly deteriorating disorder in Canavan children worldwide. The newly diagnosed children are receiving the benefits of the research we have supported and are progressing further than a child like Jacob who did not receive the same interventions as a baby.

Jacob’s Cure is currently funding a stem cell trial that aims to further treat and ultimately cure Canavan Disease. Our Phase I clinical trial will include as many as 20 Canavan children, which is the FDA imposed limit for Phase I trials, and our Phase II treatment trial will be available to as many children as our funding can support. Already, Jacob’s Cure’s work in gene therapy and pharmaceutical research has slowed and in some cases halted the progression of Canavan disease and has also lead to treatments in more commonly known disorders such as Parkinson’s, ALS and Multiple Sclerosis. Stem cell research such as ours may very well revolutionize the manner in which white matter neurological diseases are treated and will be a model for their cure.

Funds raised by Jacob’s Cure help support Canavan families with lifesaving treatments and move us closer to our ultimate goal of curing Canavan children. Additionally, each phase of successful research increases our visibility as a rare disease for the purposes of potential federal funding. By developing strategic partnerships in the biotech industry and amongst agencies at a federal level, Jacob’s Cure is at the forefront of an initiative that aims to expedite novel treatments for Canavan and other white matter disease. Jacob’s Cure has become a leader in the fight against rare disease by fostering research collaborations, thereby maximizing every dollar donated.

In addition to raising awareness and funds for research, Jacob’s Cure launched a campaign to obtain the support of federal funding for Canavan Disease. Categorized as an ‘orphan’ disease, federal funding for Canavan disease has been in short supply, and federal grant applications by researchers are often denied. It has been the sole result of parental fundraising since 1994 that has raised an estimated 7 million dollars towards therapeutic research.

Jacob’s Cure gives families devastated with the diagnosis of Canavan Disease a place to turn for help and information with regard to the daily care of their child and advocacy issues, and often most importantly, it gives them the opportunity to speak with another parent who has been through the journey of a Canavan family. Today, Canavan families are directed to Jacob’s Cure and our team of doctors and researchers for evaluation, pharmological intervention and support. They no longer have to feel hopeless and alone.

Jordana Holovach founded Jacob’s Cure in the fall of 2000 because of her passionate fight to save her son, Jacob, who is afflicted with Canavan Disease. Because of an enzyme deficiency, Canavan demyelinates the brain. Without myelin or white matter, Jacob never reached his first milestone...lifting his head. He is essentially trapped in his body. Without intervention, Jacob would lose his sight, his ability to swallow, may be stricken with seizures and can become too weak to fight off illness.

In 1998, when Jacob was 2 years old, Jordana’s efforts resulted in Jacob’s enrollment in a Phase 1 Gene Therapy Clinical Trial. Jacob, along with 14 other Canavan children, exhibited positive results, and Jacob developed new myelin or white matter.

However, for one year beginning in May 2000, Jacob and 24 other children suffering from Canavan disease waited helplessly for the approval of an advanced gene therapy procedure that had fallen victim to a lengthy FDA review process. In April of 2001, the approval was finally received and Jacob underwent this critical procedure on July 10, 2001. The results were been dramatic. Miraculously, Jacob again developed more myelin. He gained significant weight, his eyesight improved, he became stronger and he now uses his vocalizations to communicate. Other families of treated Canavan children reported the same findings.

On March 15, 2001, Jordana was invited to testify before the House Sub-Committee on Labor, Health, Human Services and Education. As a result of her passionate pleas and additional lobbying with House and Senate delegation, the NIH approved a 2.5 million dollar grant that supported our gene therapy research project and the clinical trial that was held at Thomas Jefferson University and then at Robert Wood Johnson/Cooper Hospital in Camden, New Jersey.

With great achievements, not only have the lives of Canavan children been lengthened, but also simultaneously, quality of life has been enhanced. Equally important is the application of research findings to more common brain disorders like Parkinson’s, MS and ALS. The momentum of research is quickly moving ahead towards a cure, but costs have vastly increased because of staffing requirements, materials, equipment and clinical costs. The estimated budgetary cost for the next three years is a staggering 7 million dollars, an amount too large for the parents of dying children who must also care for and manage the day-to-day therapeutic, educational and medical needs of typical Canavan children.

Without additional support, research could cease or be reduced to a snail's a snail pace. Children afflicted with Canavan disease will continue to die and any scientific gains that have already been achieved will have been wasted. If we cannot continue to fund this research, we will be throwing away the progress we have already made towards a cure for this devastating rare disorder, and it could have devastating effects on other genetic and neurological diseases that look to Canavan as a model.

In 2010, Jacob’s Cure held their first gala event at Pier Sixty in New York City, which raised $1.5 million for the fight against Canavan disease. With continued growth and additional funding from corporations, family foundations, individuals and the government, there is hope that the Canavan children will be cured.