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OHSU to Participate in Worldwide Study for Rare Metabolic Kidney Disease

   Portland, Ore.

Fabry disease has devastated one Oregon family because there is no treatment for the disease

Karen Rohrs of Oregon City began to worry about the health of her two sons nearly 20 years ago, while they were in high school. Both sons were wrestlers. Often, no matter how hard they exerted themselves, they were unable to sweat. They had frequent, intense burning pain in their feet and joints. Their physicians couldn't figure out what was causing it.

Then, a decade ago, Karen, who is adopted, was reunited with her birth family. "Almost the first thing they asked me was, 'Does your family have Fabry disease?' I'd never heard of Fabry disease, but the more they described the symptoms, the more it matched what my sons had been experiencing."

Fabry disease is a rare genetic disorder that hinders the body's production of an enzyme that breaks down certain glycolipids, fatty substances that are an important component of healthy cells. In Fabry disease, these glycolipids build up to unhealthy concentrations in the blood vessels, kidneys, heart and other organs, causing pain in the hands and feet, difficulty sweating, kidney failure, skin rashes, early stroke and cardiac arrest. Because of these organ complications, before dialysis and kidney transplants Fabry disease was often fatal by age 40. Currently some patients are mildly affected, showing few if any signs and symptoms. But more severely affected individuals often have shortened life spans, even with the availability of kidney transplants and dialysis.

Fabry disease affects an estimated 2,000 people in the United States. Karen, four of her six children, and four of her seven grandchildren suffer from it. Her mother, seven of her nine birth siblings, four nieces and two nephews also have Fabry disease. The disease primarily affects males in its most severe form, but it is passed down the generations by females, who also often suffer from its symptoms. "When the boys are in pain, it's horrible," said Karen. "It's almost more than they can endure."

There is currently no specific treatment for Fabry disease. Fabry patients are treated symptomatically. For example, they can be given pain medications to help lessen their pain, heart medications or surgery to correct some of the associated heart problems, and dialysis or kidney transplantation to treat kidney failure. These measures, however, do not address the underlying cause of the disease. Oregon Health & Science University and OHSU Doernbecher Children's Hospital have recently joined 26 other research centers in a worldwide clinical study of an enzyme-replacement investigational drug scientists hope will slow or stop the progression of kidney failure and other Fabry symptoms. This investigational drug supplies the patient with the enzyme they have an inability or decreased ability to make on their own.

The study drug, developed by Genzyme Corporation, has already been through several phases of human clinical trials. The current clinical trial, meant to test whether it is safe and effective, will involve 70 patients from around the world. Two out of three patients will be given the treatment, and one out of three patients will be given a placebo, an inactive substance. Neither the patients nor the researchers will know who has received what until after the study is completed. Conducting the study in this way helps researchers to determine if the drug is the factor responsible for any change in Fabry symptoms seen during the trial.

"Fabry disease is a devastating condition. Affected patients often suffer horribly. This study gives us an opportunity to work toward finding an effective treatment for the future," said Robert D. Steiner, M.D., associate professor of pediatrics, and molecular and medical genetics in the OHSU School of Medicine, and chief of OHSU and Doernbecher's Division of Metabolism.

Steiner says the experience of Karen's family - the prolonged search to find a diagnosis and a health care provider knowledgeable about Fabry disease - is not unusual. "Since so few physicians ever directly encounter this disease and the symptoms experienced are varied and often nonspecific, it is frequently undiagnosed or misdiagnosed. So, in addition to looking for patients with a confirmed diagnosis of Fabry disease, we're looking for patients who may have Fabry symptoms, but who do not yet have a confirmed diagnosis."

The study may run for up to 29 months, but it is predicted to run for approximately nine months. To be eligible for the study, patients must have a clinical presentation and laboratory evidence consistent with Fabry disease, be older than 16, and meet certain other eligibility criteria. Patients who have undergone or are currently scheduled for kidney transplantation, are currently on dialysis, or have unconfirmed Fabry disease, are not eligible, although testing to confirm Fabry disease is available. Female patients who are pregnant or lactating are also ineligible.

Karen's two sons, the family members who have suffered most from the disease, are not currently eligible for the trial. Her older son is suffering from kidney failure and is on dialysis; her younger son's symptoms have decreased to the point that he is not eligible either. Meanwhile, two other grandsons who have the disease are now in their early teens and have just begun experiencing the same kind of burning pain that their uncles first suffered at the same age.

"We have always tried to be an active family," said Karen, who has recently begun to experience disease-related pain and fatigue herself. "But the disease has just brought an end to all that. I only hope they can find a treatment, for the sake of my family and everyone else who has this disease."

For more information about the study, call Lisa Coons, M.S., P.A.-C., at 503 494-7944. Or visit

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