Treatment Seen for Familial Dysautonomia

Tocotrienols, a Vitamin E Variant, Said To Ameliorate Nervous System Crises

By Jonathan Friedman

Published August 15, 2003, issue of August 15, 2003.
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Two New York doctors have discovered a treatment that is raising hope for sufferers of one of the Jewish genetic diseases.

Sylvia Anderson and Berish Rubin, both of the Laboratory for Familial Dysautonomia Research at Fordham University, announced in May that a variant of vitamin E, tocotrienols, is effective as a treatment for familial dysautonomia (FD), a fatal disease that affects more than 500 people worldwide.

Tocotrienols work by increasing the body’s production of IKAP, a protein that regulates the autonomic nervous system. The gene that causes FD reduces levels of the protein.

As the they explain it, those who do not carry the gene for FD have 100% of the IKAP protein necessary to function in their bodies. Carriers of the FD gene have only 50% of the IKAP protein they need, but are still able to live normal lives. An FD patient typically has only 10% of the necessary IKAP protein, a dangerously low level that affects the functioning of the nervous system.

As a therapy, tocotrienols have raised IKAP levels in patients to as high as 40%. Because tocotrienols are natural substances, they did not need Food and Drug Administration approval and so were immediately available for testing on patients. Tocotrienols are administered orally as a dietary supplement, like any vitamin.

FD patients experience symptoms such as cyclical vomiting, life-threatening episodes of high blood pressure and heart rate, sweating and fever, referred to as “autonomic crises.”

No therapy to prevent FD crises was available until the doctors started experimenting with tocotrienols, the doctors said. The only treatments available were intended to control the symptoms. Because of the lack of treatments, FD had a 100% fatality rate, with many infant deaths.

“Tocotrienols are not a cure,” Anderson said, “but they are a significant step towards raising the levels of IKAP in FD patients.”

Anderson explained that the mutation of the gene that causes FD inflicts permanent damage to the body even before the patient is born. Because of this, tocotrienols or other natural substances cannot cure FD, but they will have a greater impact the earlier they are taken.

The research performed at Fordham University was funded jointly by the FD Hope Foundation, Dor Yeshorim and the Committee for the Prevention of Jewish Genetic Diseases. Donna Ruppert, executive director of FD Hope, said she has been receiving reports from exuberant doctors about the improvement in their patients. One such report is from Dr. Einat Shiran, who is conducting a study of the effects of tocotrienols on patients in Israel. She wrote the foundation to say that a 12-year-old girl she has been treating “has improved remarkably in the 12 days since she began taking tocotrienols. She used to vomit for half an hour every morning, but her nausea has disappeared. And, her most amazing reaction is her sensitivity to changes in temperature, something she has never sensed before. Can this really be happening?”

Ruppert reports also hearing from parents who are ecstatic about their children’s improvements: “Parents are telling me that their child can feel pain, differences in temperature and excrete tears. As the stories drift in, we hold our breath and pray.”

One such parent is Ann Slaw. Her 11-year-old son, Andrew, has been in and out of hospitals his entire life. Andrew’s condition was deteriorating because his low IKAP levels were inflicting damage to his nervous system. He checked into a hospital on December 25, 2002, and was transferred to Children’s Memorial Hospital in Chicago in March when doctors became frustrated with their inability to treat him.

“I thought I might lose my son,” Slaw said. He was having one to four crises a day, in which his heart rate increased to 180 (average heart rate is 90-120), his blood pressure rose to 200 over 150 (average blood pressure is about 90 over 60), and he suffered from uncontrollable wretching. From the time he entered the hospital on December 25 to the time he began taking tocotrienols, Andrew had more than 200 crises, his mother said. Doctors could not prevent the crises but were able to treat the symptoms with valium and other medications. Andrew was showing no sign of improvement.

Andrew began taking tocotrienols during the final week of May to increase his IKAP levels. Three days later, doctors felt he had stabilized and could leave the intensive care unit. His crises became less severe and required less medication. By the second week, there was a complete cessation of crises. Eleven days later, on June 9, Andrew returned home.

“The tocotrienols are responsible for getting my son out of the hospital,” Slaw said. “They increased his energy, controlled his nervous system and stopped the crises. It seemed as if all hope was gone and then, in just a few days, my son was brought back to me.”

FD Hope’s Ruppert said her foundation is funding other research to find substances that will increase IKAP levels as well as many other studies. One study seeks to determine the effect of certain foods on IKAP levels. Some foods, including dairy products, can lower IKAP levels at which FD patients are likely to have a crisis. The goal of the study is to give parents information on how to regulate their children’s diet.

One possible source of a cure for FD is gene therapy, a process not yet available for FD. Tocotrienols do not fix the mutation on the genetic level, but they change the RNA so that the body functions as if there was no mutation. Gene therapy could change the existing DNA and replace it with a normal pair.

Anderson and Rubin will continue to research other natural substances that may fight FD, but their discoveries have already had a powerful impact on parents like Slaw.

“I feel as though we’re walking in the midst of a miracle,” she said. “To see Andrew’s energy this high, and to see that his body will allow him to do what he really wants to do, is truly a miracle. There is still a part of us, as parents, that are in shock. There is a sense of suspended disbelief, that it can’t be this simple — and it is. I keep asking Dr. Anderson and Dr. Rubin, ‘Can it be this simple? Can it really be this simple?’ and they keep answering, ‘Yes!’”

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