Treating the Youngest Patients in the World with MVID

Children’s Hospital Colorado is treating the world’s youngest patients with microvillus inclusion disease (MVID) using a new treatment, offering options to those affected by the condition. MVID is a rare genetic diarrheal disorder that prevents the body from absorbing nutrients with fewer than 300 cases reported worldwide. But that didn’t stop pediatric gastroenterologists at the Digestive Health Institute — it inspired them.

“It’s so rare that when talking with this family, they asked if we could reach out to colleagues to see if anything can be done,” Lindsey Gumer, MD, says.

Dr. Gumer emailed colleagues across the globe to see if there was a treatment available. That’s when she connected with Mohamad Miqdady, MD, a professor of pediatric gastroenterology in the United Arab Emirates.

“I have a patient with this disease,” he said. “You have to talk to this scientist.” 

In 2012, scientists at Napo Pharmaceuticals developed an antidiarrheal drug from the sap of an Amazonian tree. Crofelemer works by modulating the cystic fibrosis transmembrane conductance regulator (CFTR) and the calcium-activated chloride channel, improving the stool consistency.

“The drug impacts the intestine mucosal channels,” Dr. Gumer says. “It significantly reduces diarrhea. There are six children in the world using this drug with MVID.” 

Two of those children received the treatment at Children’s Colorado after Dr. Gumer obtained emergency use approval from the Food and Drug Administration. One of the patients remains on the medication and is showing improvement. Although intravenous nutrition remains necessary for all patients with MVID, the diarrhea has become more manageable.

“Her IV nutrition support is the baseline. And now, she’s doing all the baby stuff, like hiking with her parents. We think it’s working for her,” Dr. Gumer says. 

Looking ahead, Dr. Gumer hopes this discovery will pave the way for the drug to treat other forms of intestinal failure.

“In an ideal world, I’d be able to give this to my patients with short bowel syndrome. While still a rare disease, it’s far more common than MVID and would be great to see if this could help reduce their output. I think there could be other applications which could be really exciting for rare disorders,” Dr. Gumer says.