Promising New Treatment for Huntington's Disease

Nov. 8, 2011— -- When Scott Falciglia was 10 years old, his parents sat him down to tell him that his 40-year-old mother, Alice, was diagnosed with Huntington's disease, a devastating degenerative condition that breaks down nerve cells in the brains.

"They told me I was at risk and there's no cure or treatment and it was very serious," said Falciglia, 27, of South Norwalk, Conn.

The conversation set off a childhood and early adulthood in which he watched his mother's physical and cognitive health decline. Every few months, he said, it seemed his mother lost the ability to perform another basic liberty or function.

"She couldn't drive after she had a bad car wreck," Falciglia said. "She reacted poorly to another car swerving in her direction and had a big accident. She had become unsafe to herself and others."

Her speech and memory abilities declined and the twitches he had noticed in his mothers' toes and fingers as a boy soon turned into the "Huntington's dance," jerky involuntary movements that constantly came from her hands and body.

"She was often mistaken for being intoxicated or mentally retarded," he said.

Her ability to swallow soon dissipated and she needed help putting her makeup on, doing her hair and going to the bathroom.

"The biggest word is just frustrating to watch my mother go through that," Falciglia said. "Your mind doesn't totally fall apart right away, but your body does. It must be such a suffocating feeling, knowing her mind is functioning and she can't talk and say what she wants to say. She was a sharp woman and could understand for a long time, but couldn't communicate."

"Her body was a cage," he said.

Falciglia's mother died in 2008 after living with the disease's symptoms for 14 years. She was 54.

There is no cure and there are few treatments available for Huntington's disease patients, but a new study published in the Lancet Neurology found that a drug known as pridopidine seems well-tolerated and efficient in helping patients control involuntary movements.

"The study shows modest improvement of a variety of motor deficits without relevant side effects in patients with Huntington's disease," said Dr. Justo Garcia de Yebenes, lead author of the study, which was based in Madrid, Spain."For the moment these results contribute to the symptomatic treatment of a variety of motor deficits in patients with this disease."

The disease is a debilitating genetic disorder that affects about 30,000 Americans. The condition causes involuntary movements, coordination and speech and swallowing problems, along with dementia. Children of parents with a single mutated gene have a 50 percent chance of developing it.

Falciglia said his family can trace the disease back to his great-great-grandmother, during a time when doctors did not understand the symptoms or have a name for the condition. His grandfather died of the disease and three out of his grandfather's five children -- Falciglia's mom, along with an aunt in late stages of the disease and an uncle who died -- suffered the same illness.

Onset of the disease typically begins around 40 years old, and patients usually die 15 to 20 years after symptoms surface, according to the Huntington 's Disease Society of America.

Falciglia has not been tested for the disease, and plans to "follow the book"-- most doctors recommend children of Huntington's disease patients only get tested if they become noticeably symptomatic.

After his mother died, Falciglia, his brother Brian, and friend Andrew McDermott created the non-profit organization, Sons of HD.

"The biggest reason we started the organization is because we want to spread awareness of a little known disease that is so awful," Falciglia said.

And now, the study drug under investigation, pridopidine, seems to bring slight hope to a disease that is largely without treatment. The medication stabilizes dopamine in the central nervous system, researchers said, particularly in areas of the brain that control movement and coordination. There is only one other drug, known as tetrabenazine, which treats involuntary movements in patients, but, until now, there has not been a drug available that has improved patients' voluntary abilities to move muscles.

"My general impression is that the results were modest in magnitude, but the safety and tolerability was excellent so the drug has definite promise," Dr. Karl Kieburtz, professor of neurology at University of Rochester Medical Center, said in an email. "The studies completed to date will likely need confirmation before approval by regulators, but such an addition to the treatments for HD (very few indeed) would be most welcome by physicians, patients and families."

The phase three trial analyzed the safety and efficacy of the treatment among 437 HD patients from eight countries, in which study participants were randomly assigned to take the drug or the placebo for more than six months. The pridopidine improved eye and hand movements, along with balance, when compared with patients taking the placebo.

The manufacturing company, Neurosearch, is planning a confirmation study with the same dose as well as an exploratory study with higher dose for 2012," de Yebenes said. "Dopamine stabilizers, as pridopidine, are a new class of pharmaceutical compounds of great interest in complex neurological and psychiatric disease. It would be of interest investigating pridopidine and related compounds in several of these disorders."

And Fred Taubman, director of marketing and communications at the Huntington's Disease Society of America, said the HD research will not only benefit the patients and families of those affected by the disease, but has an important impact across all neurodegenerative conditions.

"There's no question that, in five to 10 years, we're all going to be getting complete genome scans," Taubman said. "Huntington's disease is the only neurodegenerative disease caused by only one mutation. It's the perfect laboratory disease and what's being learned is a great value of the understanding of the brain and treatment of other neurodegenerative diseases."

As for Falciglia, if a cure is still a ways down the road, he'd like to see a treatment that allows "someone's body to be in the same timeline as the breakdown of their mind."

"If you've accepted that you're sick, at least you have a better quality of life and you can also function cerebrally, so you can have those few more years."