Promising treatment for APECED, a disease causing severe yeast infection and endocrine disorder

APECED (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) is a rare autoimmune disease caused by mutations in a single gene for which there has been no cure. Finland has the highest incidence of APECED in the world.

APECED attacks many different organs. It can cause long-term yeast infections of the mucous membranes, insufficiency of the hormone-producing endocrine glands such as the adrenal glands, and inflammation of the intestines, among other things.

The first results of a treatment to reduce the incidence of APECED were recently published in the New England Journal of Medicine. A study conducted under the auspices of the US Department of Health and Human Services showed that APECED patients have excessive production of interferon-gamma, which is important for immune defense, leading to inflammation of various organs and progressive tissue damage.

JAK inhibitor ruxolitinib effective in countering the symptoms of the disease

The international study involved 110 children and adults with APECED. One Finnish patient was involved. Experimental animal models were also used. The study used the drug ruxolitinib, a JAK inhibitor, to reduce the production of interferon-gamma, an inflammation mediator.

“The ruxolitinib treatment, which acts on the disease mechanism, proved to be excellent. It made the subjects feel much better and, in some of the pediatric subjects, tissue damage that was thought to be incurable was partially or completely repaired,” says Paula Klemetti a specialist in pediatric gastroenterology at HUS New Children's Hospital.

In particular, ruxolitinib significantly reduced bowel symptoms and no adverse effects were observed in five patients receiving the drug. "The difficult treatment of hormone deficiencies was also significantly facilitated as the overall condition of the subjects improved thanks to the JAK inhibitors," says Matti Hero  a specialist in pediatric endocrinology at HUS New Children's Hospital.

The study has progressed to a larger trial to confirm the efficacy of the treatment before it is used more widely on patients. Currently, the use of the drug is limited to patients in Finland on an individual basis.

Finnish APECED patients monitored for longer than anywhere else in the world

“This is one of the most important APECED studies. It may allow us to prevent new disease manifestations in APECED patients in the future,” says Saila Laakso a specialist in pediatric endocrinology at HUS New Children's Hospital.

The recently published extensive international study is partly based on research on APECED already conducted in Finland since the 1970s. The Finnish APECED patient dataset has been crucial in shedding light on the severity of the disease and its broad manifestation and genetic cause. Follow-up and research on Finnish APECED patients continues to be active.