Following clinical trial, boy with Fanconi anemia transfusion free

Seven-year-old Ervis of Chicago, Illinois, is a model student with a positive attitude and a megawatt smile. His mom Ofelia calls him “un encantador” — “a charmer,” but life as Ervis knows it is not exactly charmed.

Born with Fanconi anemia (FA), a rare hereditary blood disorder that can lead to bone marrow failure and cancer, due in part to excessive DNA damage, Ervis has lower-than-normal blood cell counts. This means he is more susceptible to infection and fatigue. It also means he requires monthly blood transfusions — that is until now.

Metformin clinical trial offers hope

Since January, Ervis has been participating in a clinical trial, led by Dr. Elissa Furutani, co-director of the Hematology Clinic at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. The purpose? To learn whether Metformin — an FDA-approved oral medication used for many decades to treat diabetes and insulin resistance — improves blood counts in people with FA.

Dr. Akiko Shimamura, director of the Dana-Farber/Boston Children’s Bone Marrow Failure and Myelodysplastic Syndrome Program, initiated the clinical trial and established the infrastructure that facilitated the rapid translation of these laboratory findings.

“Safe and effective options are currently limited to treat the blood counts in individuals with Fanconi anemia,” says Dr. Shimamura. “Metformin was identified as a potential agent to treat Fanconi anemia after intensive laboratory investigation by leaders in the field, Dr. Alan D’Andrea at Dana-Farber Cancer Institute and Dr. Markus Grompe at the Oregon Stem Cell Center.”

For the past six months, Ervis has been taking daily doses of Metformin, while being monitored regularly by his local doctor and the Dana-Farber/Boston Children’s research team. He’s only needed to travel to Boston twice — both times accompanied by two, strong, determined women, his mom Ofelia and aunt Elida. Needless to say, there is no shortage of love.

“Obviously, we had mixed feelings about the clinical trial,” says Ofelia. We were a little bit scared, but there was hope. Sometimes you have to take risk in order to see benefits.”

‘On a mission’

Ervis has already had his share of health challenges, including a kidney transplant at age 3 — another FA battle scar. And according to his mom, prior to the clinical trial, his future care plan included a bone marrow transplant. She prays he won’t need one now.

“The trial also explores whether metformin protects against DNA damage in Fanconi anemia,” says Dr. Shimamura. “Potential anti-cancer effects of metformin are being studied in the general population, so the results of this trial may be helpful more broadly.”

Ervis rests comfortably in the recovery room following the final bone marrow biopsy, which will assess his progress. Ofelia and Elida sit calmly by his side.

“It’s really hard to see your child suffering,” says Ofelia. “We feel like we are on a mission. We are not only helping Ervis, you know, but we are also helping others.”

Get information about how to enroll in the Metformin clinical trial.