By Bob Shepard
UAB Media Relation

UAB has established the third multidisciplinary comprehensive clinic in the world for transverse myelitis, a rare spinal cord disease.

mike jezdimerPhysical therapist Melissa Daniel works with Mike Jezdimir, a transverse myelitis patient at UAB.Mike Jezdimir knows firsthand how hard it is to get appropriate medical treatment for his condition, a disease of the spinal cord called transverse myelitis. He has had it for 48 years, since he was 17. TM is fairly uncommon, and many physicians rarely encounter it. Treatment options are limited.

There were only two comprehensive clinics in the world for TM until the University of Alabama at Birmingham recently opened the third multidisciplinary, comprehensive clinic for transverse myelitis at UAB’s Spain Rehabilitation Center.

Jezdimir is a patient at UAB and the creator of the Mike L. Jezdimir Transverse Myelitis Foundation, raising money for UAB TM research. Amie (Jackson) McLain, M.D., the chair of the UAB Department of Physical Medicine and Rehabilitation, directed him to Tara DeSilva, Ph.D., a scientist in the department who studies multiple sclerosis, a disease similar to TM.

Jezdimir sparked her research interest in transverse myelitis and connected her with the Transverse Myelitis Association, where conversations about the necessary components for a designated transverse myelitis clinic at UAB began.

“This is a game changer for those of us with transverse myelitis and for UAB,” Jezdimir said.

The clinic joins two others — at Johns Hopkins University and the University of Texas Southwestern — as the only comprehensive clinics for treating TM. It will combine physicians and other medical professionals from multiple disciplines, including physical medicine and rehabilitation, neurology, neurosurgery, urology, and pain management, in caring for patients with TM, which can cause loss of motor function or paralysis.

“The mission of our multidisciplinary clinic is to provide the best care possible to patients living with transverse myelitis,” said William Meador, M.D., assistant professor in the Department of Neurology. “We also combine excellent clinical care with research efforts to better understand and treat this illness.”

The clinic offers immediate access to a number of rehabilitation specialists, such as physical, occupational and speech therapists, orthotic specialists, and many others. The clinic also serves as an educational tool to expose medical students and residents to transverse myelitis in a constructive and meaningful manner.

In the United States, up to 10,000 people will develop TM annually. Although it can affect people of all ages, it typically strikes people in their teens and early 20s, or in their 30s and 40s. About half of all TM patients experience significant recovery, but the other half have profound loss of motor skills or experience some level of paralysis.
In the United States, up to 10,000 people will develop TM annually. Although it can affect people of all ages, it typically strikes people in their teens and early 20s, or in their 30s and 40s. About half of all TM patients experience significant recovery, but the other half have profound loss of motor skills or experience some level of paralysis.

“Those patients require a multifaceted approach, and the comprehensive nature of our clinic creates a synergy among the diverse branches of medicine involved, leading to outstanding medical care,” McLain said. “The UAB TM clinic provides one-stop shopping, so each patient can see all the medical professionals who have a role in their care at one time and in one place. For patients with mobility issues, this is a tremendous benefit.”

“We are blessed in Alabama to have an academic medical center such as UAB with the expertise and knowledge to provide the depth of care needed by patients with TM,” Jezdimir said. “This is only the third clinic of its kind in the world, and the combination of outstanding patient care with UAB’s robust research efforts gives me hope that new therapies, or even a cure, can someday be found.”

UAB’s transverse myelitis research efforts are spearheaded by DeSilva along with Chander Raman, Ph.D., a professor in the Division of Clinical Immunology and Rheumatology, and Hui Hu, Ph.D., associate professor in the Department of Microbiology.

Their collaboration seeks to understand how inflammation can damage or destroy myelin, the fatty insulating substance that covers nerve cell fibers.

“This damage causes nervous system scars that interrupt communications between the nerves in the spinal cord and the rest of the body,” DeSilva said. “We will employ advanced imaging techniques and novel approaches in epigenetic research on immune cells to further our understanding of transverse myelitis. This information will help facilitate our pre-clinical studies in animal models to develop future clinical therapies.”

The most common causes of TM are inflammation, infection and stroke, although in many cases the cause is never determined. Symptoms can vary greatly depending on which portions of the spinal cord are affected. The most common symptoms include numbness in the extremities, weakness of the legs or arms, loss of bladder and bowel control, inability to walk, and impaired balance.

The transverse myelitis clinic is held the third Thursday of each month at the Spain Rehabilitation Center, 1717 Sixth Ave. South. Appointments can be made at 205-934-4179.



By Bob Shepard
UAB Media Relations


Research to identify a new approach to treat Alzheimer’s disease gets new funding after a pilot grant from the Alabama Drug Discovery Alliance.  

   alzheimersResearchers at the University of Alabama at Birmingham and Southern Research are launching a new study to identify a novel therapy for treating Alzheimer’s disease. Funded by a grant of $250,000 from the BrightFocus Foundation, the new study grew from preliminary work funded by the Alabama Drug Discovery Alliance.

Principal investigator Erik Roberson, M.D., Ph.D., associate professor in the Department of Neurology and co-director of the Center for Neurodegeneration and Experimental Therapeutics at UAB, and co-principal investigator Corinne E. Augelli-Szafran, Ph.D., director of the chemistry department at Southern Research, will lead this program focusing on targeting the interaction between tau and fyn, two proteins in the brain that are involved with Alzheimer’s disease.

“We’ve long known that the protein tau is associated with Alzheimer’s disease,” said Roberson. “Fyn is a protein involved in learning and memory, and has more recently been implicated in neurological conditions such as Alzheimer’s and epilepsy. There are now considerable data suggesting that blocking the interaction between tau and fyn could be protective against Alzheimer’s.”

Roberson says previous research has shown that lowering tau in the brain in animal models seems to prevent Alzheimer’s disease, and the tau/fyn linkage is an intriguing target for blocking tau’s function without having to reduce tau levels, which may be difficult in human patients.

“The interaction seems to be key,” Roberson said. “But we can test this only by finding drugs that block that interaction. The BrightFocus Foundation grant, following on the heels of our ADDA funding, will fund the next step in this process.”

The UAB School of Medicine and Southern Research began the Alabama Drug Discovery Alliance in 2008, with crucial contributions from the UAB Center for Clinical and Translational Science and the UAB Comprehensive Cancer Center. The ADDA’s objective is to use the resources available at these institutions to facilitate drug discovery and development.
The UAB School of Medicine and Southern Research began the Alabama Drug Discovery Alliance in 2008, with crucial contributions from the UAB Center for Clinical and Translational Science and the UAB Comprehensive Cancer Center. The ADDA’s objective is to use the resources available at these institutions to facilitate drug discovery and development.

“This is an excellent example of taking groundbreaking basic research to the next level, and it demonstrates the unique capabilities within the ADDA,” said Mark J. Suto, Ph.D., vice president of drug discovery at Southern Research.

The first phase of this work, funded by the ADDA, used the state-of-the-art high-throughput screening facility at Southern Research to look for compounds that acted upon the interaction of tau and fyn. More than 100,000 compounds were screened, from which about 30 compounds showed a positive response. The new grant from BrightFocus will allow the research team to further evaluate the active compounds with the goal of identifying the top two or three candidates for a potential drug that could interfere with the tau/fyn connection.

Those candidates will then be tested in animal models of Alzheimer’s disease with the ultimate goal of entering into human clinical trials for the treatment for the disease.

“This is an exciting and novel therapeutic approach for the treatment of Alzheimer’s disease,” Augelli-Szafran said. “Having been able to identify potential chemical matter from our high-throughput facility at Southern Research gives us an edge moving forward with this research program. With our drug discovery talent here at Southern Research and our research and clinical expertise at UAB, we anticipate that this program will have an impact on the Alzheimer’s disease community.”

The researchers will employ the BrightFocus Foundation grant to help support the necessary work to find the strongest contenders for a new potential drug candidate — work that got its start with the ADDA.

“This grant illustrates how we are leveraging institutional investments by both UAB and Southern Research to attract outside investment in our programs,” said Maaike Everts, Ph.D., director of the ADDA and an associate professor in the Department of Pediatrics. “I think the funding of this proposal illustrates the quality of the science and the approach we have here in the Alabama Drug Discovery Alliance, and how the strengths of both institutions complement each other, making for a very attractive partnership for external investment.”

BrightFocus Foundation is a nonprofit organization supporting research and providing public education to help eradicate brain and eye diseases, including Alzheimer’s disease, macular degeneration and glaucoma.



By Bob Shepard
UAB Media Relations

UAB has received prestigious designation as a Comprehensive Stroke Center from the Joint Commission and American Heart Association.

stroke2“Designation as a Comprehensive Stroke Center means that UAB is prepared to offer immediate access to state-of-the-art stroke care every minute of every day.”The University of Alabama at Birmingham has been named a Comprehensive Stroke Center by the Joint Commission and the American Heart Association/American Stroke Association. UAB met the Joint Commission’s standards for Disease-Specific Care Comprehensive Stroke Center Certification. The designation means UAB is part of an elite group of providers recognized as industry leaders and responsible for setting the national agenda in highly specialized stroke care.

“Designation as a Comprehensive Stroke Center means that UAB is prepared to offer immediate access to state-of-the-art stroke care every minute of every day,” said David G. Standaert, M.D., Ph.D., professor and chair of the Department of Neurology. “We provide advanced and potentially lifesaving services that are available nowhere else in Alabama, as part of our continuing commitment to offer the best possible care to residents of our state, the surrounding region and beyond.”

Comprehensive Stroke Center certification recognizes those hospitals that have the staff, training and infrastructure to receive and treat patients with the most complex strokes. The Joint Commission recognized UAB’s advanced imaging capabilities and 24-hour availability of specialized treatments, along with staff who possess the unique education and competencies to care for complex stroke patients.

UAB, which is the first hospital with Comprehensive Stroke Center certification in Alabama, has eight expert stroke physicians and the most board-certified vascular neurologists in the state, along with 350 nurses specially trained in stroke care. UAB’s Neurosciences Intensive Care Unit is one of the largest in the United States, and UAB Hospital also boasts a dedicated stroke unit. UAB treats over 1,100 strokes a year.

UAB, which is the first hospital with Comprehensive Stroke Center certification in Alabama, has eight expert stroke physicians and the most board-certified vascular neurologists in the state, along with 350 nurses specially trained in stroke care.
“Comprehensive Stroke Center certification is a reaffirmation of the exceptional stroke care we provide for our patients,” said Mark R. Harrigan, M.D., associate professor in the Department of Neurosurgery and interim director of the UAB Comprehensive Stroke Center. “Stroke is a medical emergency, and this recognition by the Joint Commission and AHA shows that UAB is well equipped to be a leader in stroke management through education, research and enhanced patient care.”

A stroke occurs when a blood vessel either is blocked by a clot or bursts, which interrupts blood flow, depriving brain cells of the oxygen and nutrients they need to survive. An American has a stroke every 40 seconds, and someone dies from a stroke every four minutes. Strokes are the fifth-leading cause of death and the leading cause of adult disability in the U.S.

“By achieving this advanced certification, UAB has thoroughly demonstrated the greatest level of commitment to the care of its patients with a complex stroke condition,” said Mark R. Chassin, M.D., president of the Joint Commission. “Certification is a voluntary process, and the Joint Commission commends UAB for successfully undertaking this challenge to elevate the standard of its care for the community it serves.”

Comprehensive Stroke Center certification was developed in collaboration with the American Heart Association/American Stroke Association and was derived from the Brain Attack Coalition’s “Recommendations for Comprehensive Stroke Centers” and “Metrics for Measuring Quality of Care in Comprehensive Stroke Centers,” as well as on recommendations from a multidisciplinary advisory panel of experts in complex stroke care.

For more information on the Joint Commission and American Heart Association’s Advanced Certification for Comprehensive Stroke Center, visit www.jointcommission.org/ or www.heart.org/myhospital.




In the United States, approximately 6% to 8% of the population, or 25 million people, have a rare disease.1,2 Currently, more than 6,800 conditions qualify as a rare disease, which, in the United States, is considered to be a condition that affects fewer than 200,000 persons.1,2 Subsequently, such diseases can be difficult to study. Single institutions often have small sample sizes and funding to conduct multicenter studies may be lacking. At a poster session during the American Academy of Neurology (AAN) 67th Annual Meeting, researchers studying progressive multifocal leukoencephalopathy caused by the JC virus, provided insights on how teleneurology might be used to improve rare disease research and the care of patients with rare diseases.1   Rare Disease Report had the opportunity to discuss the study in greater detail with the presenters, Igor J. Koralnik, MD, Division of Neuro-Immunology, Department of Neurology, and the Center for Virology and Vaccine Research, Department of Medicine, Beth Israel Deaconess Medical Center (BIDMC), Harvard Medical School, Boston, MA, and Shruti P. Agnihotri, MD, a former Neuro-Infectious Diseases fellow with Dr. Koralnik at BIDMC, and now at the Division of Neuro-Immunology, Department of Neurology, The University of Alabama at Birmingham.

What is teleneurology?

Teleneurology is a form of telemedicine that uses diverse technologies to provide neurologic consultation from a distance. This might include telephone calls, e-mails, and videoconferencing. We also refer to this as cyberconsults.

What led you to provide teleneurology services? Please also describe your process.

Because we’re involved in clinical and basic research on JCV-associated diseases at BIDMC in Boston, we receive many requests for advice on such cases. We found these requests to be time-consuming, so we came up with a process for handling them more efficiently. During the academic year 2013-2014, our neuroinfectious disease fellow Dr. Agnihotri established contact with the requestor to obtain details, imaging studies, and other potentially useful information. Because we preferred to obtain the pertinent information from patients’ primary healthcare providers, if patients or their families contacted us directly, we asked them to have their treating physician contact us. Then, once all available information was obtained, Dr. Agnihotri discussed the case with Dr. Koralnik, and our recommendations were presented to patients’ treating physicians. Patients deemed to be candidates for our research studies were presented with this option, which led some patients to come to our office for a face-to-face consultation.

What kind of requests did you receive regarding JC virus syndromes and what were your findings?

We received 43 requests between July 2013 and June 2014, of which 19% originated in our home state of Massachusetts, 58% from other US states, and 23% from other countries. Based on the data we received, we identified a JC virus syndrome in 33 patients (77%) and other diseases in 8 patients (19%). We were unable to make a diagnosis in 2 cases due to insufficient data. Of the 33 patients with JC virus syndromes, 11 enrolled in our research studies. Thirteen of the 43 requests were for atypical presentations, with the majority being second opinions and inquiries related to the availability of treatment-based clinical trials.

Does teleneurology pose any challenges?

Yes, teleneurology for rare diseases presents many challenges. Ethical and legal factors require careful consideration when providing medical advice without full and direct assessment of a patient, as malpractice is always a concern. Therefore, we find it prudent to take an approach that serves to guide the referring physician, such as by describing the steps we would take to establish the diagnosis and/or determine management if we were to see a similar presentation in our clinic.

What about benefits?

There are definitely numerous benefits, including the satisfaction of providing assistance that is not available locally, access to an expanded pool of patients for research studies and publications, and grateful patients and families who may further support research through philanthropy.

Do you have a take-home message for healthcare providers with regard to teleneurology, or even telemedicine in general?

Teleneurology is an emerging field that provides considerable promise in furthering research and improving the care of patients with rare neurologic diseases; however, the process needs to be a collaborative one, with the disease expert and referring physician working closely together to reduce the challenges and enhance the benefits, particularly when a rare disease straddles several medical specialties.

References

1. Agnihotri S, Koralnik I. S.O.S. Progressive multifocal leukoencephalopathy: teleneurology for a rare disease. Poster presented at: 67th American Academy of Neurology Annual Meeting; April 18-25, 2015; Washington, DC. 2. Agnihotri S, Koralnik I. Training for a neurology career in a rare disease: the role of cyberconsults. Ann Neurol. 2015;77(5):738-740.
Image "Telecare conference" by Jackhsiao - Own work. Licensed under Public Domain via Wikimedia Commons - https://commons.wikimedia.org/wiki/File:%E8%95%AD%E4%B8%AD%E6%AD%A3%E9%99%A2%E9%95%B7%E9%80%B2%E8%A1%8CTelecare_conference.jpg#/media/File:%E8%95%AD%E4%B8%AD%E6%AD%A3%E9%99%A2%E9%95%B7%E9%80%B2%E8%A1%8CTelecare_conference.jpg

By:  Christina T. Loguidice
Rare Diseas Report