Sam's parents, Michael and Laura, were conflicted. Laura was afraid of giving Sam false expectations — the treatment was still experimental and might not work. Michael believed it was worth a try to expand his son's food options and, hopefully, improve his quality of life. Six-year-old Sam also had an opinion: He wanted to give it a shot.
And so, they did. Now 8 years old and in third grade, Sam isn't much of a talker. He’s more of a one-word charmer. He feels “fine" — not just on the day he was asked — but “all” the time. “Yeah,” he’s glad he was able to participate in a clinical trial for children with eosinophilic esophagitis, also known as EoE.
Today, Sam can eat his favorite foods: cheese pizza, milkshakes and Pepperidge Farm® goldfish crackers. They're just a few of the previously restricted milk and milk products that have been reintroduced into his diet since the start of the inaugural study at Children’s Hospital of Philadelphia two years ago.
Low weight sparks concern
Sam was just a baby when his parents, who are both physicians, began to worry about his growth. At 6 months old, Sam wasn't gaining weight, he was vomiting frequently, and had started to have trouble sleeping, recalls Laura.
They made an appointment with Edisio J. Semeao, MD, a pediatric gastroenterologist, at CHOP Specialty Care & Surgery Center, Brandywine Valley, nearby their home in Wynnewood, PA. Initially, Sam was treated for acid reflux, and the vomiting stopped. But, Laura says, "Sam still wasn’t growing like he should.”
At 10 months old, Sam had dropped below the first percentile for weight for his age. Laura stopped breastfeeding and started Sam on a high-calorie formula. She noticed that whenever she added more milk to his diet, her son had more bad reactions.
Eosinophilic esophagitis diagnosis
Because of her medical training, Laura knew acid reflux shares many of the same symptoms with EoE, but hoped he wouldn't be diagnosed with the rare disorder that was unknown until about 30 years ago, has no known cause, and affects about 1 in every 2,000 children.
For most people, white blood cells called eosinophils are an important part of the body's immune system. They help fight parasites in the blood and intestine. But when eosinophils appear in large quantities, they can cause irritation and inflammation. In EOE, the eosinophils gather in the esophagus, causing nausea, regurgitation, vomiting, abdominal pain, acid reflux and other symptoms.
Laura shared her concerns with Sam's doctors and they recommended an endoscopy, a diagnostic test where an endoscope is inserted into the mouth and into the esophagus, where a small tissue sample is taken. Sam's test results came back positive for eosinophils.
With milk being the most common trigger to the allergic response produced by EoE, Sam's family removed milk and all milk products from his diet. Over time, eggs, wheat and soy were also removed from Sam’s diet.
“It was very easy to remove foods in the beginning," Laura says. But as Sam got older, food restrictions became more challenging — especially at birthday parties with his friends.
EoE milk patch study at CHOP
Sam was about to enter first grade when Jonathan Spergel, MD, PhD, Co-director of CHOP’s Center for Pediatric Eosinophilic Disorders, told Sam's family about a new clinical trial called the Study of Efficacy and Safety of the Viaskin Milk in Milk-Induced Eosinophilic Esophagitis in Children (SMILEE). The principal investigator for the study was Antonella Cianferoni, MD, PhD, an attending physician in the Allergy Section at CHOP.
Sam and his father were in enthusiastic favor of his participation.
“I didn’t want him to do the study,” recalled Laura, even though a few of her own patients were enrolled. “I was in full 'mom' mode. I didn’t want him to be disappointed. At that point, we had already put milk in his diet and taken it away. I didn’t want to have to take it away again,” she said.
Sam, who seemed to understand the gamble, eventually won his mother over.
“He was so excited and it gave him hope.”
Before Sam entered the first trial, his parents consulted with his allergist and added milk back into Sam’s diet. An endoscopy performed just prior to the formal trial was positive for EoE.
Starting the trial
The first trial began in the summer of 2016. It was a double-blind, placebo-controlled, randomized trial to assess the effectiveness and safety of an investigational therapy known as Viaskin Milk (VM) for treatment of eosinophilic esophagitis. Viaskin is a novel technology platform that is based on epicutaneous immunotherapy (EPIT), where the allergen (milk, in this case) is administered to the immune system through intact skin. Animal models using EPIT for EoE have shown promising results, and the trial at CHOP was the first human study.
“Sam was really good about wearing the patch. It had to be changed every day. If we forgot, he reminded us,” Laura said.
Sam, who didn't have any symptoms during the first year of the study, had his fill of pizza, milkshakes, gold fish crackers, and other favorites. At the end of the year, Sam underwent another endoscopy, which showed no eosinophils. The results were cause for celebration, his father said.
When the study was extended into another year, Sam’s parents allowed him to participate again. Sam completed his second study year in June 2018. Again, Sam underwent an endoscopy and received his second consecutive negative result for eosinophils.
Promising results, but unknown future
While Sam remains asymptomatic for EoE, it’s just too soon to tell if he will outgrow the condition or be cured. Study results are promising though, Laura says.
“He may not have a lasting benefit. We have no idea what will happen five or 10 years out," Laura says. "We are hopeful he will continue to not be allergic to milk, but we don’t know.”
“If this study is favorable, it will be life changing for Sam and for so many others.”
For now, Sam continues to take his twice daily dose of Prevacid for acid reflux, along with a nasal steroid and an oral histamine for his seasonal allergies. He will also continue to see Dr. Semeao every three months.
Eating continues to be a challenge for Sam, his mother said. But he is working hard at it, loves to eat meat, and remains committed to consuming as much pizza, goldfish crackers and ice cream as possible.
A favorite family memory is captured in a photo from last summer: Sam and his sister Abby are standing on the boardwalk in Ocean City, NJ. Both siblings are holding soft-serve vanilla cones with rainbow jimmies. Sam’s ear-to-ear smile — and ice cream mustache — says it all.