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New Drug for Periodic Paralysis has Roots in URMC Research

Monday, December 7, 2015

photo of Robert Griggs

Robert “Berch” Griggs, M.D.

More than 15 years of research led by neurologists at the University of Rochester Medical Center (URMC) has culminated in the first approved treatment for individuals with a rare neuromuscular disorder called periodic paralysis. The U.S. Food and Drug Administration (FDA) recently approved dichlorphenamide, which is being marketed under the brand name Keveyis by Taro Pharmaceuticals, for individuals with the disease.

Periodic paralysis is extremely rare – an estimated 5,000 people in the U.S. suffer from the disease – and the condition is generally neither fatal nor life shortening, but can have a significant impact on quality of life depending upon the frequency and severity of the paralytic “attacks” that are the hallmark of the disease. Some patients can go months without an attack and may only experience limited movement in an extremity, while others experience attacks daily and can be immobilized for several hours at a time. Over time, many patients become weaker.

“This is one of the most dramatic diseases in medicine,” said Robert “Berch” Griggs, M.D., a professor in the University of Rochester Medical Center Department of Neurology and principal investigator of the clinical studies that led to the drug’s approval. “A patient can wake up in the morning and be completely paralyzed from the neck down. Over the course of hours they regain mobility so by the time they get the doctor’s office they are often completely normal.”

Griggs is an internationally recognized expert in periodic paralysis and is sought out by patients from around the world. Almost 45 years ago, Griggs first demonstrated that the drug acetazolamide was partially effective in treating periodic paralysis and, more recently, was part of a team of researchers that discovered the genetic cause of periodic paralysis. In 2003, the National Institutes of Health tapped Griggs to head a national network of physicians and scientists that are focusing on rare neurological disorders such as periodic paralysis.

URMC’s role in bringing dichlorphenamide to market began in 2000, when Griggs and his colleague Rabi Tawil, M.D. showed in a small study that dichlorphenamide was highly effective in preventing the attacks and keeping patients’ muscles strong.

Read More: New Drug for Periodic Paralysis has Roots in URMC Research

Study Identifies Patients' Priorities in Treating Rare Muscular Dystrophy

Wednesday, November 18, 2015

photo of Chad Heatwole

Chad Heatwole, M.D.

A new study of individuals with myotonic dystrophy type 2 (DM2) -- a rare form of muscular dystrophy --has helped pinpoint the symptoms of the disease that are most important to patients. These findings, published today in the journal Neurology, could help create a roadmap for physicians to prioritize treatment of this complex, multi-system disease.

"This study represents the first large-scale attempt to obtain direct patient input to identify the most prevalent and life-altering symptoms of myotonic dystrophy type 2," said University of Rochester Medical Center (URMC) neurologist Chad Heatwole, M.D., the lead author of the study.

Read More: Study Identifies Patients' Priorities in Treating Rare Muscular Dystrophy

Birbeck Holds Family Feedback Meeting in Malawi

Sunday, November 1, 2015

photo of family members who participated in a study

Dr. Birbeck recently held a Family Feedback Meeting for the Family’s of Children who participated in our clinical trial of LVT for seizure control in acute cerebral malaria. The families of over 40 children came together to learn about the results of the study and our plans for future work.

Experimental Treatment Regimen Effective Against HIV

Monday, October 19, 2015

Protease inhibitors are a class of antiviral drugs that are commonly used to treat HIV, the virus that causes AIDS. Scientists at the University of Nebraska Medical Center designed a new delivery system for these drugs that, when coupled with a drug developed at the University of Rochester School of Medicine and Dentistry, rid immune cells of HIV and kept the virus in check for long periods. The results appear in the journal Nanomedicine: Nanotechnology, Biology and Medicine.

While current HIV treatments involve pills that are taken daily, the new regimens' long-lasting effects suggest that HIV treatment could be administered perhaps once or twice per year.

Nebraska researcher Howard E. Gendelman designed the investigational drug delivery system--a so--called nanoformulated protease inhibitor. The nanoformulation process takes a drug and makes it into a crystal, like an ice cube does to water. Next, the crystal drug is placed into a fat and protein coat, similar to what is done in making a coated ice--cream bar. The coating protects the drug from being degraded by the liver and removed by the kidney.

When tested together with URMC--099, a new drug discovered in the laboratory of UR scientist Harris A. (Handy) Gelbard M.D., Ph.D., the nanoformulated protease inhibitor completely eliminated measurable quantities of HIV. URMC--099 boosted the concentration of the nanoformulated drug in immune cells and slowed the rate at which it was eliminated, thereby prolonging its therapeutic effect.

Read More: Experimental Treatment Regimen Effective Against HIV

Patients Prefer Relief from Lower Back Pain Over Improved Mobility

Friday, September 11, 2015

diagramatic image showing back pain

A new study out today in the journal Neurology examines the question of quality of life for individuals with a common form of lower back pain called lumbar spinal stenosis. The findings show that, when asked to choose between treatments that reduced pain or would help them stand or walk, patients overwhelmingly chose pain relief.

There has long been a debate in the medical community over striking the right balance between pain relief and physical function, said John Markman, M.D., director of the Translational Pain Research Program in the University of Rochester Department of Neurosurgery and lead author of the study. While physicians have leaned toward the need to increase mobility, this study shows that patients have a clear preference for pain relief.

Read More: Patients Prefer Relief from Lower Back Pain Over Improved Mobility

Menopause Infographic: Brain Fog

Tuesday, August 11, 2015

You’re in the middle of a conversation with a colleague, and lose your thought halfway through a sentence. You call your children by the dog’s name. (If you name your dog after your first born, you might save yourself some embarrassment!). Your desk is plastered with sticky note reminders. You find yourself asking your significant other, Honey, can you call my phone? I can’t find it. You wish you could do the same with your keys and wallet.

It’s not in your head: Menopausal memory loss is real.

If a woman approaching menopause feels she is having memory problems, no one should brush it off or attribute it to a jam-packed schedule. She can find comfort in knowing that there are new research findings that support her experience. She can view her experience as normal, lead researcher Miriam Weber, Ph.D., said in a statement. Between one-third and two-thirds of women report forgetfulness and other memory difficulties during perimenopause and menopause, according to Weber.

Read More: Menopause Infographic: Brain Fog

FDA Approves Tool for Diagnosing Dementia in a Doctor's Office

Monday, August 10, 2015

Charles Duffy, MD, PhD

Dr. Charles Duffy

A small company started by a neuroscientist at the University of Rochester has moved closer to providing doctors with what he says is a simple, computer-based tool to help detect early signs of Alzheimer's disease or other forms of dementia.

Cerebral Assessment Systems has received marketing approval from the U.S. Food and Drug Administration for Cognivue, a cognitive-assessment tool that functions somewhat like a video game. A patient can perform the inexpensive and simple test while a time-strapped primary-care physician tends to other patients. The 10-minute, non--invasive examination can detect subtle lapses in the brain’s perceptual ability that may signal the early stages of mental decline caused by dementia.

The federal government's approval to market the device comes as Alzheimer's researchers everywhere step up the pursuit for easier and more inexpensive ways to identify dementia in its earliest stages.

Look, there is a late-life tsunami of late-life cognitive decline coming at us, and health-care providers are standing on the beach, said Charles J. Duffy, a neurology professor at the University of Rochester Medical Center who founded the company. What we are all about is making cognitive care part of primary care.

Read the article from the Washington Post.

Read More: FDA Approves Tool for Diagnosing Dementia in a Doctor's Office

UR Medicine Honored for Stroke Care

Friday, July 24, 2015

stroke guidelines

UR Medicine’s Strong Memorial Hospital has received the American Heart Association/American Stroke Association’s (AHA/ASA) highest award for stroke care, including a new designation that recognizes excellence in rapid care that can save lives and improve the quality of life of stroke victims.

In stroke care, time equals brain, said Curtis Benesch, M.D., medical director of the UR Medicine’s Comprehensive Stroke Center. This award recognizes the discipline and training that is required to provide appropriate and timely care to stroke patients and our team strives each and every day to provide the most comprehensive, cutting-edge care for patients from across upstate New York.

This award reflects the commitment of our team to providing the highest level of care possible for our patients who’ve suffered a stroke, said Babak Jahromi, M.D., surgical director of the Comprehensive Stroke Center. The outstanding group of nurses, therapists, and physicians that we have assembled are dedicated to this common goal.

Strong has been named a Get With The Guidelines Stroke Gold Plus Achievement Award with Target: Stroke Honor Roll Elite Plus. The award recognizes the hospitals commitment and success ensuring that stroke patients received the most appropriate treatment according to nationally recognized, research-based guidelines based on the latest scientific evidence.

To receive the Gold Plus Quality Achievement Award, hospitals must achieve 85 percent or higher adherence to all Get With The Guidelines-Stroke achievement indicators for two or more consecutive 12-month periods and achieved 75 percent or higher compliance with five of eight Get With The Guidelines-Stroke Quality measures.

Read More: UR Medicine Honored for Stroke Care

Study: Virtual Research Studies Feasible

Thursday, July 16, 2015

photo of Ray Dorsey

A new pilot study in Parkinson’s disease suggests a new era of clinical research which removes the barrier of distance for both scientists and volunteers. The research, which appears in the journal Digital Health, could also enable researchers to leverage the rapid growth in personal genetic testing to better diagnose, and potentially treat, a wide range of diseases.

These findings demonstrate that remote recruitment and conduct of research visits is feasible and well-received by participants, said Ray Dorsey, M.D., M.B.A., a neurologist at the University of Rochester and lead author of the study. Direct-to-consumer genetic testing, when paired with telemedicine, has the potential to involve more people in clinical research and accelerate the process of identifying the genetic causes and variations in chronic diseases such as Parkinson’s.

Read More: Study: Virtual Research Studies Feasible

Flaum Eye Institute Scientist Gets Funding to Study Vision Loss in Batten Disease

Thursday, July 2, 2015

Ruchira Singh, PhD

Ruchira Singh, Ph.D.

University of Rochester Medical Center scientist Ruchira Singh, Ph.D., received a grant from the Knights Templar Eye Foundation to investigate how neurodegenerative diseases, such as juvenile Batten disease, cause blindness.

Singh, assistant professor of Ophthalmology and Biomedical Genetics, will use the $60,000 grant to create a human model of Batten disease (CNL3) using patient’s own cells. The project may lead to better understand the disease mechanisms, aiding in the development of drug therapies to preserve vision in affected patients.

For the complete article, visit the URMC newsroom.

Read More: Flaum Eye Institute Scientist Gets Funding to Study Vision Loss in Batten Disease

Mink Receives First Ever Tourette’s Association of America Award

Wednesday, July 1, 2015

Jon Mink, MD, PhD

Dr. Jonathan Mink

Jonathan Mink, M.D., Ph.D., chief of Child Neurology at Golisano Children’s Hospital, is the first recipient of the Tourette Association of America’s Oliver Sacks Award for Excellence. The award, named for the famous British neurologist, was to be presented at the First World Congress on Tourette Syndrome and Tic Disorders, but due to a scheduling conflict, representatives from TAA instead traveled to Rochester to present him with the award in a surprise ceremony.

The award is in recognition of his many years of leadership, mentorship, research, and care on behalf of all people touched by Tourette syndrome and tic disorders around the world.