February 8, 2018

CHAPEL HILL, NC – Gene therapies promise to revolutionize the treatment of many diseases, including neurological diseases such as ALS. But the small viruses that deliver therapeutic genes can have adverse side effects at high doses. ������ researchers have now found a structure on these viruses that makes them better at crossing from the bloodstream into the brain – a key factor for administering gene therapies at lower doses for treating brain and spinal disorders.

“This structural ‘footprint’ we found seems to help these viruses get efficiently into the brain, which informs the design of potentially safer brain-targeted gene therapies,” said study senior author Aravind Asokan, PhD, associate professor of genetics.

CHAPEL HILL, NC – A new gene therapy approach designed to replace the enzyme that is deficient in patients with Tay-Sachs and Sandhoff diseases, inherited neurodegenerative disorders, successfully delivered the therapeutic gene to the brains of treated mice, restored enzyme function, and extended survival by about 2.5-fold.

The implications of these promising results for developing similar gene therapies for use in humans and for targeting additional brain disorders are reported in two articles published in the journal, Human Gene Therapy.

Steven Gray, PhD from the University of North Carolina School of Medicine, and Jagdeep Walia from Queen’s University in Kingston, Canada, led a team of researchers in the successful development of a specialized adeno-associated virus (AAV) vector. The vector was designed to deliver a gene coding for portions of the alpha and beta subunits of the enzyme that are defective in the Tay-Sachs and Sandhoff mice, respectively. The novel gene transfer vector, administered intravenously, was able to deliver the therapeutic gene to the brain and spinal cord, the targeted sites of action.

“I’m proud of the highly collaborative nature of this work that made it possible, between three institutions across the U.S. and Canada, and in partnership with the New Hope Research Foundation,” said Gray, an assistant professor in the Department of Ophthalmology and a researcher in ������’s Gene Therapy Center and Carolina Institute for Developmental Disabilities. “Several cutting-edge technologies came together on this, which can now be applied to multiple other rare nervous system diseases. In the meantime, our goal is to develop a human treatment for both Tay-Sachs and Sandhoff diseases based on this work.”

“This important proof-of-concept study sheds important information on the optimal design of rAAV vectors for this class of disorders,” says Human Gene Therapy Editor-in-Chief Terence R. Flotte, MD, Celia and Isaac Haidak Professor of Medical Education and Dean, Provost, and Executive Deputy Chancellor, University of Massachusetts Medical School, Worcester, MA.

The articles are part of a special issue on central nervous system disorders and are available free for download from the Human Gene Therapy website until Aug. 28, 2016.

Links to the articles:

~Press release by Tom Hughes, originally published on the .

Submitted by Taylor’s Tale

North Carolina’s Leadership Enhances National Rare Disease Initiatives

When Governor McCrory signed the legislation enacting the North Carolina Advisory Council on Rare Diseases on August 5, 2015, the state claimed a leadership role by creating the first such council in the country. By passing the legislation unanimously, the General Assembly endorsed the vision that uniting North Carolina’s resources to develop rare disease treatments would address a public health imperative as well as serve as an economic catalyst.

The Council advises and submits recommendations to the Governor, Secretary of the Department of Health and Human Services and General Assembly on research, diagnosis, treatment and education related to rare diseases. The Council also coordinates statewide efforts for the study of incidence of rare diseases within North Carolina and the status of the state’s rare disease community.

Other states and rare disease advocates across the nation are taking note of North Carolina’s bold initiative, which led to an invitation by the Rare Disease Legislative Advocates (RDLA) to Taylor’s Tale to present the journey of the creation of the North Carolina Council on Rare Diseases during Rare Disease Week on Capitol Hill. The week of workshops and meetings drew more than 330 rare disease advocates representing 130 organizations to Washington D.C. on February 29 to March 3.

The concept for the N.C. Council on Rare Diseases was first presented to state legislators during an informational event hosted by Taylor’s Tale in March of 2015. Enthusiastic bipartisan support, led by Representative Becky Carney (D-District 102) and Senator Louis Pate (R-District 7), resulted in the bill’s passage by the General Assembly with 19 co-sponsors. Throughout the process, the University of North Carolina at Chapel Hill advised the legislators and identified opportunities to improve the lives of rare disease patients.

RDLA is a grassroots advocacy program of the EveryLife Foundation for Rare Diseases. RDLA organizes the annual Rare Disease Week on Capitol Hill to ensure that members of Congress and other key leaders, such as administrators, researchers and other professionals at the National Institutes of Health (NIH) and the Food and Drug Administration (FDA), engage with rare disease patients and their advocates in productive ways.

Judy Mayer, a member of Taylor’s Tale’s Board of Directors who represented the Charlotte-based rare disease patient advocacy organization during Rare Disease Week on Capitol Hill, is encouraged by the collaborations she observed in Washington D.C. She reports, “As a first-time participant in Rare Disease Week, I had no set expectations for the experience. Especially given the political climate, I was uncertain if any significant impact could be achieved, but a positive attitude prevailed. The good news is that the rare disease community is receiving tremendous bipartisan support at the federal level, just as it is in North Carolina.”

The Rare Disease Week participants share the belief that an “all hands on deck” mobilization is needed to increase the pace of providing treatments to rare disease patients, both to improve their quality of life as well as to contain healthcare costs. “There is a genuine sense of a real partnership among rare disease patients, their advocates, healthcare professionals, administrators and law makers,” says Mayer. “For example, FDA Commissioner Robert M. Califf, M.D., MACC, willingly listened to patients as they offered suggestions to streamline regulatory processes. Gayatri Rao, M.D., J.D., director of the FDA’s Office of Orphan Products Development, provided a ‘how to’ guide to help advocates engage with the agency. And in addition to formal addresses by leaders such as NIH Director Frances S. Collins, M.D., Ph.D., I witnessed sincere conversations like the one between a rare disease advocate and Petra Kaufmann, M.D., M.Sc ., director of the NIH’s Office of Rare Diseases Research and Division of Clinical Innovation, National Center for Advancing Translational Sciences.”

In preparation for visiting members of Congress and/or their staff, RDLA provided excellent training for the advocates, many of whom suffer from a rare disease or have a family member who is a rare disease patient. “One couldn’t help but be impressed by the bravery demonstrated by so many of the rare disease patients,” says Mayer. “Oxygen tanks and wheelchairs did not stop these determined people from their mission to raise awareness and affect change. Many realize that treatments…and one day cures…will come too late for them personally, but they push on nevertheless to improve the lives of other rare disease patients and those yet to be diagnosed.”

Members of Congress and their staffers allocated time in their busy schedules to meet with state delegations, and most responded favorably to invitations to join the bipartisan Rare Disease Congressional Caucus. The caucus’ leaders, Senator Amy Klobuchar (D-MN), Senator Orin Hatch (R-UT), Representative Leonard Lance (R-NJ) and Representative Joseph Crowley (D-NY), also addressed the advocates.

Mayer relates, “The people in Washington responded as caring individuals who were moved as they listened intently to personal stories about the awful impact of rare diseases on lives. I believe that the North Carolina representatives will long remember the mom from Fayetteville who showed a photo of her precious young daughter who had passed away only three months previously. Although the pain was fresh, she was determined to do what she could to ensure that no other mother would face losing a child to a rare disease.”

RDLA educated the rare disease advocates about pending legislation in the Senate that would advance its version of the healthcare initiatives which the House of Representatives overwhelmingly passed in the 21^st Century Cures Act (H.R. 6) in 2015. The legislation expedites approvals of effective rare disease treatments, among other key biomedical and precision medicine innovations. The Senate’s Health, Education, Labor and Pensions Committee is considering the Senate’s version of the legislation.

(Visit for information regarding pending federal legislation.)

Depending in part on the final bills that Congress passes, real progress in developing treatments for rare disease patients is within society’s collective grasp. The science exists to treat many diseases, but important work remains to streamline the current complicated regulatory environment and to facilitate public-private partnerships that will fund the basic research and clinical trials needed to bring treatments to the marketplace.

North Carolina’s legislation provides a valuable model for achieving real results by uniting the state’s resources, including its healthcare professionals and infrastructure, public and private research facilities, biotech industry and research universities. The Council, which is domiciled at the University of North Carolina School of Medicine, includes clinicians and researchers from ������, Duke University School of Medicine and N.C. State University. (It is anticipated that additional universities will actively participate in the future.) The shared mission is to advance the development of translational platform technologies that provide treatments for rare disease patients while creating quality jobs to attract and retain a talented workforce. The Council also ensures that rare disease patients and their advocates have a meaningful voice in this vital process by partnering with the N.C. Rare Disease Coaltion.

As a significant public health issue, attention must be paid to rare diseases. The numbers are truly staggering: one in 10 Americans has been diagnosed with one of the 7,000 known rare diseases, many of which are transmitted genetically and are typically fatal. Worldwide, the estimate of rare disease patients tops 400 million people. Children account for the majority of rare disease patients; in the U.S. alone more than 50 percent of hospital admittances are pediatric rare disease cases. Despite the billions of dollars spent annually by American taxpayers and private insurers to treat the symptoms of rare diseases patients, less than 5 percent have access to a FDA-approved treatment. Access to treatments that address the underlying diseases is even more scarce.

While officially a disease is defined as rare in the U.S. if fewer than 200,000 people have been diagnosed with it, in many cases the numbers are far lower. A physician may never encounter a particular rare disease in his or her practice, which results in expensive and frustrating delays in providing a diagnosis as well as in beginning a treatment protocol. In reality, patients and their caregivers are often the experts in dealing with many rare diseases, and their insights are increasingly valued by researchers, healthcare professionals and policy makers.

“The spirit of rare disease patients and their advocates is illustrated in my encounter with a young woman who stopped in front of the Supreme Court Building to ask for directions, “ says Mayer. “A strong, cold wind blew on Capitol Hill, yet this tiny woman in her motorized wheelchair was undaunted as she headed to meet with her Senator. She is a woman who will not be deterred from doing everything she can to improve the lives of rare disease patients.

“The rare disease community often states that ‘rare is everywhere’ and ‘a victory for one is a victory for all.’ North Carolina’s leadership in the development of rare disease treatments and other medical innovations represents an important step in this life-saving journey.”

NOTE: A sincere “thank you” is extended to the North Carolina members of Congress and/or their staff who met with the state’s rare disease delegation during Rare Disease Week on Capitol Hill:

• U.S. Senator Richard Burr (R)
• Angela Wiles, Health Policy Assistant
• U.S. Senator Thom Tillis (R)
• Matthew Flynn, Legislative Assistant
• Representative Alma Adams (D-District 12)
• Margaret Franklin, Legislative Assistant
• Representative Mark Meadows (R-District 11)
• Zachary Enos, Legislative Research Assistant
• Representative Robert Pittenger (R-District 9)
• Caroline Barbee, Legislative Assistant
• Representative David Rouzer (R-District 7)
• Kyle Sanders, Legislative Counsel

Contact: Taylor Holgate (Burr) 202-228-1616

Wednesday April 6, 2016

WASHINGTON – Today, Senator Burr (R-NC) spoke before the Health, Education, Labor and Pensions (HELP) Committee on the need for rare disease treatments.

: Sen. Burr speaks on treatments for rare diseases

Senator Burr highlighted the example of Taylor King from Charlotte, NC who suffers from Batten disease, a rare genetic condition for which no treatments are currently available. Taylor’s mother, Sharon King, started Taylor’s Tale, an advocacy group dedicated to combatting Batten disease and advocating for the rare disease community.

“Taylor’s fight is our fight. And the fight isn’t over,” said Senator Burr. “Innovation is at the heart of how we are going to help Taylor win her battle and combat so many diseases and disorders that impact families in North Carolina and across this country. But it’s up to us to step up to this challenge, and I hope we do so on behalf of Taylor and all of the other Americans like her who are counting on innovation to discover the cure that will help them win their battle.”

You can learn more about Batten Disease and the King family’s efforts to spread awareness by visiting the Taylor’s Tale .

Laura King Edwards will be running in the 19th annual Martha’s Vineyard 20 Miler to honor her sister, Taylor King, who suffers from Batton disease. She hopes to raise both awareness and money for research to benefit her sister and the approximately 30 million other Americans suffering from often-fatal rare diseases.

, assistant professor in the and a researcher in ������’ s and has been named as a recipient of one of the Triangle Business Journal’s 2016 Health Care Heroes Awards. The announcement of the award winners was made February 15. The awardees will be honored at an awards dinner on March 17 at The Rickhouse in Durham. Congratulations to Dr. Gray!

Daniel S. Levine, producer of , interviews Sharon King, rare disease advocate and president of , and Tara Britt, associate director of the newly created North Carolina Rare Disease Advisory Council, about the development of the legislation that created the advisory council on rare diseases in North Carolina.

Dec. 8, 2015

This year North Carolina lawmakers passed a bill that formed an Advisory Council on Rare Disease, House Bill 823, which is housed in the ������. The council will give guidance to the Governor, the Secretary, and the General Assembly on research, diagnosis, treatment and education related to rare disease. The council consists of rare disease advocates including providers, researchers and patients. The recommendations of appointments to the council have been approved by Richard Brajer, Secretary of North Carolina Department of Health and Human Services (DHHS).

The following people will serve an initial three-year term on this council beginning Dec. 1, 2015, through Nov. 30, 2018. Dr. Bruce Cairns, MD, John Stackhouse Distinguished Professor of Surgery, Director of the North Carolina Jaycee Burn Center, ������, serves as Chair of the Council. Rufus Edmisten, former NC Attorney General and Secretary of State, serves as a rare disease survivor. Sharon King, Founder of Taylor’s Tale Foundation, Chair of NC Rare Disease Coalition, serves as the patient advocate. Other Council members include Dr. Vandana Shashi, MD, Professor of Pediatrics, Genetics, Duke University Medical Center; Dr. Mike Knowles, MD, Professor of Medicine, Cystic Fibrosis, ������; Dr. Jude Samulski, PhD, Professor of Pharmacology, Director of the ������ Gene Therapy Center, ������; Brenda Nielsen, RN, ������ Comprehensive Hemophilia Diagnostic and Treatment Center, ������..

Dr. Randall Williams, Deputy Secretary of Health and Human Services, State Health Director, serves as the ex-officio member.

“The members of the Rare Disease Advisory Council are grateful to Secretary Brajer and the State of North Carolina and are honored to be asked to serve on the Council on behalf of the people of North Carolina,” said Dr. Bruce Cairns, Chair of the Council. “One in 10 – over a million North Carolinians – suffers from one of at least 7,000 rare diseases. We are confident we have assembled an outstanding team that can begin the process of transforming how these devastating conditions are diagnosed and treated. More importantly, we are convinced that working together we will be able to improve the lives of countless citizens of our state.”

“North Carolina is privileged to have nominees of such incredible caliber to serve on the Advisory Council to provide important and necessary guidance to the Governor, the Department and the General Assembly on rare disease research, diagnosis, treatment and education,” commented Secretary Brajer.

Tara Britt, ������, serves as Associate Chair for the council and facilitates the activities of this council. For more information regarding this council, please contact Tara Britt at tjbritt@unc.edu.