RARE Daily

Researchers Say They Found a Cure for Rare Form of IBD

October 14, 2020

Rare Daily Staff

A bone marrow transplant can treat a rare genetic condition that causes inflammatory bowel disease, according to researchers at the University of Manchester and Manchester University NHS Foundation Trust.

The disease, called G6PC3 deficiency, affects around one in a million people and causes inflammation of the bowel, as well as lung infections. The team also showed that in affected patients, a type of white blood cells known as neutrophils trigger inflammation when exposed to gut bacteria, despite treatment with commonly available biological therapies.

Neutrophils—which form pus—are deployed by the body to remove bacteria, particularly in the gut and lungs. G6PC3 is important in sugar metabolism, critical for providing energy for neutrophils, which struggle to divide and function when it is deficient.

The team examined neutrophil function and response to bone marrow transplant in four children with G6PC3 deficiency-associated IBD. The children’s IBD had failed to respond to other immune therapies including steroids and biologics. The patients were treated at the Royal Manchester Children’s Hospital—part of Manchester University NHS Foundation Trust—one of the world’s leading centers for pediatric bone marrow transplantation.

After the treatment, the symptoms of IBD went into remission in all of the patients. Three of the patients are now three to four years post-transplant and still in remission. Most patients stay in isolation in a ward for three to four weeks before going home to isolate for a further few months.

“Although IBD caused by G6PC3 deficiency is extremely rare and difficult to diagnose, it’s thrilling that we have found a way to successfully treat it in these four children,” said Peter Arkwright, senior lecturer at The University of Manchester and Consultant in Pediatric Immunology, Royal Manchester Children’s Hospital, who led the study published in the Journal of Leukocyte Biology. “It’s rare to say a cure has been found for any disease, but I think in this case, it’s perfectly accurate to say this.”

Photo: Peter Arkwright, Senior Lecturer at The University of Manchester and Consultant in Pediatric Immunology Royal Manchester Children’s Hospital

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