UF to lead national effort to help patients with rare brain disease
When treating devastating brain diseases such as Alzheimer's and Parkinson's, doctors can reach into their medical bags to find something to help a patient.
But they come up empty-handed when they try to help the vast majority of patients with ataxia — disabling disorders that rob people of their balance and coordination.
University of Florida neurologists are trying to change that with the help of a $1 million Challenge grant from the National Institute of Neurological Disorders and Stroke to establish a nationwide network of physician-scientists with expertise in clinical ataxia research.
"A lot of times I explain to patients the symptoms of ataxia are similar to what happens when someone gets too much alcohol into their system," says S.H. Subramony, M.D., a professor of neurology in the UF College of Medicine. "In either case there is slurred speech, inability to walk straight, falling, blurry vision — symptoms that indicate damage to a part of the brain called the cerebellum."
Ataxia — from the Greek "a taxis," meaning without order or coordination — can leave a patient unable to coordinate their eye blinks, let alone move. It can be hereditary or it could be brought on by strokes, tumors or other medical problems. One form, called sporadic ataxia, appears without apparent explanation in adults with no family history of the disease.
"Our first goal is to find a treatment to make patients' lives easier," said Tetsuo Ashizawa, M.D., chairman of the UF department of neurology and principal investigator and leader of the national effort, called the Clinical Research Consortium for Spinocerebellar Ataxias. "But the common thread ataxia shares with diseases such as Alzheimer's, Parkinson's, Huntington's and ALS is that neurons are dying. By studying ataxia, we can create insight into the neurodegenerative process in all of those diseases."
With laboratory and clinical research expertise from Ashizawa, Subramony and Michael Waters, M.D., Ph.D., director of the neurology department's stroke program, UF will lead nine other consortium institutions, including the Johns Hopkins University and Harvard University. The institutions are strategically placed across the nation so patients who have difficulty traveling can find close and state-of-the-art health care.
The ataxia consortium is part of the NIH's Rare Diseases Clinical Research Network, which will be awarding more than $117 million over the next five years to explore the natural history, epidemiology, diagnosis and treatment of more than 95 rare diseases.
By definition, a rare disease affects fewer than 200,000 persons in the United States. But put them all together — 6,500 rare diseases have been identified — and an estimated 25 million Americans are affected. Diabetes, in comparison, affects an estimated 24 million people.
"Collectively rare diseases can become very huge public health problem even though the reach of each individual disease is small," Ashizawa said. "I think the NIH recognized the need to provide outreach and medical care to patients, in addition to the need for research. Now we have a huge responsibility to achieve our goals for the taxpayers."
UF researchers will be working with cell cultures, animal models and patient samples to find targets to alleviate ataxia problems. In the meantime, scientists will build a natural history database to bring this devastating disease into more precise focus.
"We want to know how a patient will progress from day to day and hour to hour if they have degenerative ataxia disorders," Ashizawa said. "We want to know what factors worsen or improve the condition. For example, when patients are calm, they seem to do better. When they're upset and rushed, they do terribly. If they drink alcohol, they are much worse."
Creating or finding a drug that would help these patients is one of the consortium's goals. Ashizawa notes that it may be possible that deep brain stimulation surgery, a technique UF has expertise in that uses tiny electrical pulses to influence movement or moods, may be beneficial.
The first step is to identify the patients and create a nationwide registry funded by the NIH and the National Ataxia Foundation. In addition, the consortium is collaborating with ataxia groups in Europe, South America and Japan.
"Collaboration is a critical element of rare diseases research and the partnerships represented in this program have tremendous potential to make great strides in understanding these diseases," according to a statement by Stephen C. Groft, Pharm.D., director of NIH's Office of Rare Diseases Research. "The network emphasizes collaboration not just among investigators from multiple research sites but between investigators and patient advocates as well."
Challenge grants are part of the American Recovery and Reinvestment Initiative and address specific scientific and health research challenges that will benefit from two-year jumpstart funds.