Brave New World

Transformational programs give clinicians the tools to explore new frontiers of medicine – and offer new hope to patients.

At 5 months old, Boston Dewald was a very sick little boy. Diagnosed with inflammatory bowel disease (IBD), Boston’s doctors in Kansas were struggling with how to best manage the baby’s delicate condition. They asked experts at Children’s Hospital of Philadelphia (CHOP) for help.

After a battery of medical and genetic tests, CHOP doctors discovered Boston had a rare gene defect that was causing his IBD — a defect that could lead to a life-threatening condition called hemophagocytic lymphohistiocytosis (HLH).

A multidisciplinary team from the divisions of Gastroenterology, Genetics, Immunology, Oncology and Rheumatology at CHOP worked together to create a customized treatment plan to address Boston’s diagnosis and specific gene defect.

Today, the 2-year-old is back home and symptom-free. Boston is just one of thousands of children with complex disorders who have a brighter future after coming to CHOP — thanks to innovative programs like the Center for Pediatric Inflammatory Bowel Disease at CHOP.

The Next Frontier

To build upon its 162-year history of pioneering care for children, CHOP has committed to giving 10, successful multidisciplinary programs — dubbed Frontier Programs — the additional support they need to forge important new discoveries, create novel therapies, and deliver hope to more families.

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Arwa Alqahtani gives a thumbs-up to her doctor, Robert M. Campbell, MD, director of the Center for Thoracic Insufficiency Syndrome, who successfully treated her after doctors in Saudi Arabia couldn’t agree on the best treatment for her complex condition. At right, Dr. Campbell shows Arwa and her father, Mubarah Alqahtani, an X-ray of the two vertical expandable prosthetic titanium ribs that have expanded her chest, allowing her lungs more room to breathe.

“Frontier Programs are involved in delivering extraordinary care that is transformational for the children involved,” says Joseph W. St. Geme III, MD, Physician-in-Chief at CHOP. “In some cases, this care is available no other place in the world.”

So far, four programs have been identified as Frontier Programs. The Cancer Immunotherapy Program and the Center for Lymphatic Imaging and Intervention were named in 2015. 2016’s selections are the Center for Pediatric IBD and the Center for Thoracic Insufficiency Syndrome (TIS).

To be chosen for three years of Frontier Program funding, programs need three essential components:

• A distinctive clinical program delivering extraordinary care for children with complex conditions
• An associated translational research program that allows continued advancement of care
• The potential to provide a return on investment that could support ongoing innovation

“These programs will continue to distinguish CHOP and attract patients from all over the world,” St. Geme says. “We are literally changing the face of healthcare for children.”

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Diagnosed with Crohn’s disease, 7-year-old Meredith McCourt returns to Children’s Hospital of Philadelphia frequently for drug infusions to combat the inflammation in her gut. At left, she shares a laugh with her doctor, Judith R. Kelsen, MD. Liam Bolan, 6, is another patient of Dr. Kelsen’s and is being treated for ulcerative colitis.

Spark of Inspiration

Physicians and scientists at Children’s Hospital of Philadelphia have been on the front lines of discovery for decades.

In the case of Robert M. Campbell Jr., MD, now Director of CHOP’s Center for TIS, it was a sick baby in the late 1980s who sparked his desire to better understand complex spine and chest wall deformities that affected the baby’s breathing and to find a solution to fix them.

Campbell’s research led to the naming of a new condition — thoracic insufficiency syndrome — and the creation of the vertical expandable prosthetic titanium rib (VEPTR), an adjustable, implanted device that takes the place of a child’s missing ribs, corrects severe spinal curves and helps stabilize the spine. What was an experimental treatment in 1995 is now the only FDA-approved treatment for TIS.

“Our understanding of thoracic insufficiency has changed a great deal in the past 25 years,” Campbell says. “Thousands of children — who had life-threatening illnesses — are now living into adulthood thanks to VEPTR and improved medical care. But there is more work to do.”

Today, Campbell and his expanding team continue to learn more about the underlying diseases that cause TIS, develop new diagnostic tools and create new treatments.

“We’ve just started the nation’s first basic science lab dedicated to TIS,” says Campbell. “We’re working with the University of Pennsylvania to develop new dynamic imaging studies to better view and measure a child’s lung capacity before and after treatment.”

Frontier Program funding has accelerated the pace of discovery — and is allowing the Center for TIS to serve more patients. Campbell is anxious to put his “inventor’s cap” back on.

“We’re really in a unique position to develop new devices beyond VEPTR — devices that can address more components of thoracic insufficiency syndrome and help more children,” Campbell says.

These programs will continue to distinguish CHOP and attract patients from all over the world. We are literally changing the face of healthcare for children.
Joseph W. St. Geme III, MD, Physician-in-Chief

Ever-changing World

In the past 30 years, inflammatory bowel disease — especially in young children like Boston — has gone from rare to relatively common.

“IBD is the fastest-growing pediatric autoimmune disorder in children younger than 5,” says Judith R. Kelsen, MD, Director of CHOP’s Very Early Onset Inflammatory Bowel Disease Clinic, which was created to treat the youngest patients with IBD.

“In the past few years, there’s been an explosion in our knowledge of the genetics of IBD and in our treatment options,” says Robert N. Baldassano, MD, Director of CHOP’s Center for Pediatric IBD. To date, genome-wide association studies have implicated more than 200 distinct locations on chromosomes where gene mutations causing IBD may be found.

At one time, the only therapy to treat IBD was steroids. It wasn’t until new medications were developed that treatment options improved. Today, there are about a half-dozen medications used to treat IBD in children. Knowing a child’s genetics and microbiome helps determine which medication will work best: true personalized medicine.

That’s why the IBD team is working to standardize genetic and microbiome testing, as well as determining the best way to share that knowledge with the world. It is also looking to partner with industry to develop new therapies for IBD, so CHOP’s expertise is included early in the drug-development process.

When CHOP researchers identified DC3R, a genetic mutation that affects about 10 percent of its IBD patients, the Hospital approached Aevi Genomic Medicine, a private pharmaceutical company, about collaborating on a new medication to block the pathway that causes inflammation in so many children.

“If it’s successful,” Baldassano says, “CHOP will have helped create an entirely new drug for kids with IBD — which is pretty amazing.”

CHOP is a nonprofit charity, and depends on donors like you to make life-changing breakthroughs for the children and families we serve.

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