Longtime allies team up to create Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence

Three longtime allies have joined forces to create the new Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence. The establishment of the center was catalyzed by a $3.25 million gift from the Friedreich's Ataxia Research Alliance (FARA), in partnership with the Hamilton and Finneran families.

For the past 16 years Penn Medicine, The Children's Hospital of Philadelphia (CHOP), and FARA, a nonprofit organization dedicated to curing FA, have collaborated to provide and push forward the care needed by FA patients.

Friedreich's ataxia (FA) is a rare, progressive neurogenetic condition found in approximately 1 in 50,000 people worldwide. While it is relatively rare, it is the most common form of inherited ataxia, a condition characterized by progressive lack of coordinated movement and loss of balance. FA also involves degeneration of heart muscle and nerve cells. Onset of symptoms usually occurs in childhood, and most patients are confined to a wheelchair by their mid-to-late twenties. Myocardial failure and/or arrhythmias are the most common cause of premature death. Currently there are no approved drugs to treat FA.

FARA, CHOP, and Penn Medicine have also shared in research and clinical trials that have elucidated the metabolic dysfunction underlying FA. Their work has created a database of well-documented patients and a pipeline of more than 20 drug candidates ready to be mined for new therapies. Today the FA clinical program at CHOP is the largest in the world.

"Nothing is more rewarding than seeing science at work in the service of the patients and families who suffer from rare diseases such as Friedreich's ataxia," says Glen N. Gaulton, PhD, executive vice dean and chief scientific officer at the Perelman School of Medicine at the University of Pennsylvania. "Penn and CHOP are fortunate to support many faculty who dedicate their careers to the care of patients with and research on such rare diseases as FA. Funding for rare disease research is a constant challenge. We are thankful to the donors for this generous gift that significantly enhances our ability to make progress toward new biomarkers, drugs and hopefully, in time, therapies for FA."

The new Center's team is working with pharmaceutical industry partners to develop drug candidates as well as biomarkers for FA, and this effort fits alongside a broader initiative at Penn Medicine: a gift from an anonymous donor recently founded the Center for Orphan Disease Research and Therapy to support the pursuit of novel therapies for rare diseases of all kinds.

"Integrating cardiac expertise into the care of patients is one major step forward this gift allows us to pursue," says Philip R. Johnson, MD, executive vice president and chief scientific officer at CHOP. "Rare diseases are often an area where philanthropy can make a difference, and the generosity of these donors will make a significant impact."

The Friedreich's Ataxia Center of Excellence is co-directed by David Lynch, MD, PhD, FA program director at CHOP, and Robert B. Wilson, MD, PhD, professor of Pathology and Laboratory Medicine at the Perelman School of Medicine. Lynch and Wilson both serve on FARA's Scientific Advisory Board, and Wilson was a founding member of FARA's board of directors and first chairman of its Scientific Review Committee. Wilson has completed a high-throughput drug screen of more than 340,000 compounds for FA drug discovery and is now working with medicinal chemists to narrow in on candidates for clinical trials.

Lynch is the principal investigator on several FA clinical studies on disease progression, FA cell biology, and visual dysfunction, among other aspects of FA.
"Achieving a more holistic approach to both research and care is one main intent of our gift," adds donor and FARA board member Tom Hamilton. "The Center will allow scientists and physicians to exchange insights regularly, not just as projects allow.

"It is very meaningful to me personally to be able to support these core research and care activities at a higher capacity," says Jennifer Farmer, FARA executive director. "We know these families have needs that can be met, and that now will be met, while treatments are developed."

The early goals and objectives of the Center include:

•Adding cardiac expertise in FA research and clinical care under the leadership of Kimberly Y. Lin, MD, a cardiologist at CHOP with board certification in pediatrics, internal medicine, and pediatric cardiology. Lin is also an assistant professor in the division of Cardiology and the department of Pediatrics at the Perelman School of Medicine.
•Increasing capacity for and opening more clinical trials.
•Creating a dedicated drug discovery unit.
•Exploring new basic research avenues using micro RNA and epigenetics approaches.
•Establishing a biomarker development program with the expertise of Ian Blair, PhD, A. N. Richards Professor of Pharmacology, Perelman School of Medicine.

Ronald Bartek, FARA president and co-founder, and his wife Rachel, enrolled their son Keith in the first Penn/CHOP FA clinical trial before FARA was established. Bartek closed the inaugural Center of Excellence meeting last month by noting, "It is not by accident that the FA Center of Excellence is being established here at Penn and CHOP and that more FA patients and families come here than anywhere else in the world. It is because we have always known we will get the best clinical care available, participate in promising clinical trials, and learn about the exciting FA research going on here and around the world. Because the FA team here has always led the way for us, we have long dreamed of providing this team greater capacity to do even more. We are deeply grateful to the Hamilton and Finneran families whose generosity now enables that dream to come true. You know we are all depending on you and we know you will not let us down."