Nav: Home

Research unveils new hope for deadly childhood disease

December 12, 2007

Investigators at the University of Rochester Medical Center have uncovered a promising drug therapy that offers a ray of hope for children with Batten disease - a rare neurodegenerative disease that strikes seemingly healthy kids, progressively robs them of their abilities to see, reason and move, and ultimately kills them in their young twenties.

The study, highlighted in the January edition of Experimental Neurology, explains how investigators improved the motor skills of feeble mice that model the disease, helping them to better their scores on successive coordination tests.

"No treatment currently exists for these kids - nothing to halt the disease, or even to slow it down," said one of the study's authors, David Pearce, Ph.D., a nationally renowned Batten disease expert and biochemist at the University of Rochester. His team has published more than 50 studies on the disease's basic mechanisms.

"Since deterioration of motor skills is the rule - in fact, it's one of the primary symptoms in children with the disease - the idea that these functions might be able to be partially restored or improved is groundbreaking," Pearce said.

Last year, University of Rochester researchers discovered that, in mice with the disease, a set of the brain's receptor cells - known as the AMPA receptors - were unusually sensitive to glutamate, a neurotransmitter vital for learning and memory. These 'super-ticklish' receptors were located in the cerebellum, a brain region that plays a hefty role in sensory perception and motor control.

"For us, their abnormal activity made them key suspects in the brain dysfunction and neurological decline associated with the disease," Pearce said.

To test that, researchers administered a drug that partially blocks these receptors and dims their activity.

Impressively, when diseased mice that received the drug, they - for the first time - became able to better their scores on successive coordination tests.

And, though they never reached the same level of nimbleness as healthy mice did, they were fierce candidates for the title of "most improved players." Over the course of the testing, they achieved nearly the same degree of improvement in their before and after coordination scores as healthy mice did. In fact, almost second for second.

"It seems we may have corrected some sort of motor learning deficit in the diseased mice," Pearce said.

While optimistic about these findings, Pearce stressed the importance of reminding affected families that this work is preliminary.

"Much research is yet needed," Pearce said. "The prospect of offering this sort of investigational medicine to affected children is still years out."

Still, he is further encouraged that a drug called Talampanel - very similar to the blocking compound used by his team in Rochester - is currently in phase II clinical trials for treating epileptic seizures.

Unlike most anticonvulsants, which typically target cells known as NMDA receptors, Talampanel works by partially blocking AMPA receptors.

"This orally active new drug would be an obvious choice for clinical trials with juvenile Batten disease patients," Pearce said. "Especially since they routinely suffer seizures, as well."

Though only 150 children in the United States suffer Batten disease, Pearce is hopeful that this research will also likely also inform research efforts for a dozen or so of its cousins - other uncommon genetic diseases, each characterized by a glitch with the cell's toxin-ridding mechanisms, the lysosomes.

Some of these lysosomal-storage diseases, as they're called, include Krabbe disease (to which Buffalo Bills quarterback Jim Kelly lost his son, Hunter, in 2005), Tay-Sachs and metchromatic leukodystrophy.

"Our research might indeed open doors for learning how other neurological disorders might benefit from drugs that regulate AMPA receptors," Pearce said.
-end-
Co-author Attila Kovács, Ph. D., assistant research professor in the Department of Biochemistry and Biophysics at the University of Rochester, contributed to this investigation, which was funded by National Institutes of Health and the Luke and Rachel Batten Foundation.

University of Rochester Medical Center

Related Clinical Trials Articles:

Review evaluates how AI could boost the success of clinical trials
In a review publishing July 17, 2019 in the journal Trends in Pharmacological Sciences, researchers examined how artificial intelligence (AI) could affect drug development in the coming decade.
Kidney patients are neglected in clinical trials
The exclusion of patients with kidney diseases from clinical trials remains an unsolved problem that hinders optimal care of these patients.
Clinical trials beginning for possible preeclampsia treatment
For over 20 years, a team of researchers at Lund University has worked on developing a drug against preeclampsia -- a serious disorder which annually affects around 9 million pregnant women worldwide and is one of the main causes of death in both mothers and unborn babies.
Underenrollment in clinical trials: Patients not the problem
The authors of the study published this month in the Journal of Clinical Oncology investigated why many cancer clinical trials fail to enroll enough patients.
When designing clinical trials for huntington's disease, first ask the experts
Progress in understanding the genetic mutation responsible for Huntington's disease (HD) and at least some molecular underpinnings of the disease has resulted in a new era of clinical testing of potential treatments.
New ALS therapy in clinical trials
New research led by Washington University School of Medicine in St.
Telemedicine helps improve participation in clinical trials
Videos and creative uses of other visuals provide a novel way to obtain informed consent during clinical trials to improve participants' understanding and retention of trial information, according to a study by Nemours Children's Health System presented at the American Thoracic Society (ATS) Annual Conference.
Not enough women included in some heart disease clinical trials
Women are underrepresented in clinical trials for heart failure, coronary artery disease and acute coronary syndrome but proportionately or overrepresented in trials for hypertension, atrial fibrillation and pulmonary arterial hypertension, when compared to incidence or prevalence of women within each disease population, according to a study in the Journal of the American College of Cardiology.
BU: Obese patients underrepresented in cancer clinical trials
A new review by Boston University School of Public Health researchers found that less than one-fifth of participants in cancer-related clinical trials are obese.
Are women really under-represented in clinical trials?
Several studies have reported a lack of gender diversity in clinical trials, with trials including mostly adult males; however, a recent review of publicly available registration data of clinical trials at the US Food and Drug Administration for the most frequently prescribed drug classes found no evidence of any systemic significant under-representation of women.
More Clinical Trials News and Clinical Trials Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Clint Smith
The killing of George Floyd by a police officer has sparked massive protests nationwide. This hour, writer and scholar Clint Smith reflects on this moment, through conversation, letters, and poetry.
Now Playing: Science for the People

#562 Superbug to Bedside
By now we're all good and scared about antibiotic resistance, one of the many things coming to get us all. But there's good news, sort of. News antibiotics are coming out! How do they get tested? What does that kind of a trial look like and how does it happen? Host Bethany Brookeshire talks with Matt McCarthy, author of "Superbugs: The Race to Stop an Epidemic", about the ins and outs of testing a new antibiotic in the hospital.
Now Playing: Radiolab

Dispatch 6: Strange Times
Covid has disrupted the most basic routines of our days and nights. But in the middle of a conversation about how to fight the virus, we find a place impervious to the stalled plans and frenetic demands of the outside world. It's a very different kind of front line, where urgent work means moving slow, and time is marked out in tiny pre-planned steps. Then, on a walk through the woods, we consider how the tempo of our lives affects our minds and discover how the beats of biology shape our bodies. This episode was produced with help from Molly Webster and Tracie Hunte. Support Radiolab today at Radiolab.org/donate.