Fda Approval of Gene Transplant Gives New Hope to Canavan Sufferer

The mother of a 3-year-old boy with a “Jewish genetic disease” still hasn’t caught her breath after reading an e-mail containing news that could help her son.

“My heart’s still pounding, I’m so excited,” said Ilyce Randell, 34, of Palatine, Ill.

She and her husband, Mike, 38, learned on April 19 that their year of intense effort to convince the U.S. Food and Drug Administration to allow an experimental gene transplant have finally come to fruition.

Their son, Max, suffers from Canavan disease, a genetic disorder in which the brain turns spongy, leading to progressive, profound disability and death. It can occur in any ethnic group, but it is most prevalent in Ashkenazi Jews – about one in 40 Jews of Eastern and Central European heritage is a carrier of the gene.

Of the total number of children who have it, 50 percent are Jewish. Available genetic testing is most sensitive for couples who are of 100 percent Ashkenazi Jewish ancestry, but many physicians don’t routinely test for it.

In May, Max and selected others will travel to Philadelphia’s Thomas Jefferson Medical Center, where his second gene transplant will take place. At 11 months, Max was the youngest person in the world to receive his first gene transplant, to equip his body to produce myelin, a protective sheath around the nerves.

“We all saw changes. He was making myelin and his sight was restored; he began to move around, to grasp, and even to speak a few words,” said Randell, who heads Canavan Research Illinois, a national nonprofit organization she founded to raise funds for medical research, educate the public, work with lawmakers and provide information to other families.

The entire Randell family recently traveled to Washington. There, they joined with a dozen other Canavan families and testified before Congress to convince legislators to ask the FDA to lift the hold on the trial, which was imposed after a transplant resulted in the death of a recipient who suffered from liver disease.

Among others who were in Washington with the Canavan delegation was Sardinia-born researcher Dr. Paola Leone, associate director of the Gene Therapy Center of the department of neurosurgery at Thomas Jefferson University in Philadelphia.

“I’m so excited and anxious at the same time to use this drug with this delivery system in patients,” Leone said of Max’s upcoming second gene transplant.

The drug, adeno-associated viral vector, carries the missing enzyme, aspartoacyclase, into the brain where it can “definitely prevent new damage, and also can reverse myelin degradation,” Leone said. To inject the drug, she developed a system of six thin injectors that leave no mark on the brain.

“As a scientist, I do not need to touch my patients to be moved and to understand their brain degradation,” she added. “I see the changes, the brain atrophy, the muscle stiffness; it puts me under extra pressure to find a cure as soon as possible.”

Some legislators are apparently equally motivated. Sen. Richard Durbin (D-Ill.) called the acting commissioner of the FDA to enlist help.

“This is a story of courage. If nothing else, she will know she’s done everything that could possibly be done for this child, and for others who will benefit from her efforts,” Durbin said.

On May 7, the Randell family, Leone and some of their supporters are expected to meet with Mary Kay Mantho, senior policy adviser to Tommy Thompson, U.S. secretary of health and human services, to discuss their situation.

While the Randells wait for Max’s second treatment, they have turned their living room and bedroom into “Canavan Central.”

Thanks to an all-volunteer workforce, they say their not-for-profit gives 99 percent of all funds raised directly to research. This money, they say, will aid those who suffer from other neurological disorders, such as Parkinson’s disease and Alzheimer’s disease, where gene transplants might prove helpful.

(For more information on Canavan disease, call 1-800-833-2194, or on the Web go to canavanresearch.org or canavanfoundation.org.)