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A treatment for a rare genetic disease that affects a person’s autonomic nervous system has produced positive results since its discovery by Fordham University’s Laboratory for Familial Dysautonomia Research last year. Fordham researchers are encouraged that the treatment could provide new therapeutic approaches for other genetic diseases, such as cystic fibrosis, according to Berish Rubin, Ph.D., the chair of Fordham’s Department of Biological Sciences and the head of the department’s Laboratory for Familial Dysautonomia Research.
The researchers published two reports in 2003 supporting the use of tocotrienols, a member of the vitamin E family, and EGCG, a polyphenol found in green tea, to temper the symptoms of Familial Dysautonomia (FD), affecting mostly people of Ashkenazi Jewish descent. Rubin said the quality of life of patients participating in the treatments has improved significantly.
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Berish Rubin, Ph.D.
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"I have heard stories that border on miraculous," said Rubin. "We have data on patients before and after tocotrienols and the difference is dramatic."
Andrew, an 11-year-old boy who had been hospitalized for more than five months with severe symptoms of FD, was released from the hospital within three weeks of taking tocotrienols. While hospitalized, he suffered from one to four autonomic crises a day, according to his mother, Ann. The crises, which are characterized by an incapacitating state of retching brought on by extreme fluctuations in blood pressure, can be life threatening and often require hospitalization. Strong sedatives, such as Valium, are commonly used to subdue each crisis.
Following his discharge from the hospital, Andrew experienced three milder crises that did not require hospitalization and he has been crisis-free for more than four months. In addition to the decreased number of crises, Andrew’s mother noted that he has more energy, is gaining weight and growing.
"It is amazing. We had a child who was ravaged by crises and doctors were throwing up their hands, saying they did not know what to do with our son, and then suddenly he is going home and is crises-free," said Ann.
Rebekah, a young girl who is mildly affected by FD, suffered two to three crises a year before being administered the tocotrienols and EGCG. Since then, she has been crisis-free.
"Dr. Rubin’s research has made a great difference in our daughter’s life," said Lynn, Rebekah’s mother. "Our attitude as parents has also changed since she has taken the supplements, because we now have more confidence in her future. Now, when she talks about what she wants to be when she gets older, we can feel that it is possible, that she will have a future."
The lifespan of FD sufferers typically doesn’t surpass 30 years. In addition to autonomic crises, complications associated with FD include an inability to produce tears—resulting in ulceration of the eyes — excessive sweating, dysphagia and vomiting, aspiration and frequent pneumonia, poor speech and motor coordination, slow growth and scoliosis. Eventually, cardiac problems such as heart arrhythmia and stroke, renal failure and pneumonia take their toll.
According to Rubin, who has received positive feedback from dozens of families, a great benefit of tocotrienols and EGCG treatments is that they cause no side effects, where as pharmaceutical treatments often produce harsh side effects.
In 2001, Rubin; Sylvia Anderson, Ph.D., the laboratory director; and a group of Fordham graduate students discovered that FD is caused by mutations in the IKBKAP gene, which produces the complex protein IKAP. Subsequent research uncovered that the mutated gene did produce some functional IKAP, but not enough to prevent the symptoms of FD. Tocotrienols and EGCG increase the production of IKAP.
According to Rubin, their discoveries have created research opportunities for other genetic diseases. Rubin and Anderson have conducted feasibility studies looking at whether the same approach used to treat FD could also be used to treat certain forms of cystic fibrosis, as well as other genetic diseases and genetically predisposed kinds of cancer.
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