Currently, there is no approved treatment that targets the biochemical imbalance in polyamines in individuals with Snyder-Robinson Syndrome (SRS). Patients rely on supportive care to address the symptoms of SRS.  Researchers have identified an existing drug, eflornithine (also known as α-difluoromethylornithine or DFMO), that may improve the polyamine imbalance in individuals with SRS. Currently, eflornithine is used to treat children with Bachmann-Bupp syndrome, another disorder affecting the polyamine pathway. Eflornithine has been extensively studied in children with neuroblastoma. Pediatric clinical trials in the U.S. are also investigating eflornithine as a means of improving the health of children with diabetes.

In collaboration with the Snyder-Robinson Foundation and experts in the polyamine field, Dr. Janet Chou, Section Chief and Chair of Clinical Immunology at Boston Children’s Hospital, aims to enable an individual with SRS to have expanded access to eflornithine next summer. We will provide additional information as it becomes available.

You can learn more about DFMO here.

If you have any questions regarding this upcoming study, you can submit your questions below. We will host a virtual meeting with SRS families at a later date to discuss any questions submitted and discuss any updates.