After discovery of rare disease, doctors invent successful treatment in just 15 months

May 15, 2023

Grand Rapids, Mich., May 15, 2023 – For a handful of children worldwide who have an ultra-rare disease called Bachmann-Bupp syndrome, a treatment regimen discovered in just 15 months by the team who identified the disease is dramatically changing their young lives. Now, two Corewell Health physicians are part of a group who has been nationally recognized by the New York Intellectual Property Law Association with its annual Inventor of the Year award, presented on May 10, 2023, in New York City.

Corewell Health and Michigan State University, or MSU, licensed the patent portfolio developed by co-inventors, Dr. Caleb Bupp, geneticist, Dr. Surender Rajasekaran, pediatric intensivist, and MSU College of Human Medicine researcher Dr. Andre Bachmann to Orbus Therapeutics, Inc. The patent covers the new use of a drug called eflornithine, also known as DFMO, for the rare syndrome. The medication, once coined the ‘resurrection drug,’ has been around for decades and has been used to treat West African Sleeping Sickness.

“Because the results of this drug were so dramatic and people would actually just wake up from being in a coma from the sleeping sickness, the World Health Organization has used it since then, on compassionate grounds,” Dr. Bupp said. “The decades-long history of its use helped lay the groundwork and gave us confidence to start it as a safe treatment for our patients.”

Currently, it can take up to 17 years for proven research results and treatments to reach a patient. But for rare diseases, that can be even longer.

“Rare disease drug development is really hard to achieve when there are only a handful of patients in the world that have the disease,” Dr. Bupp said. “Because there was already an existing animal model with safety data, considerable clinical data and dosing protocols in place, we were able to repurpose the drug safely and effectively.”

Dr. Rajasekaran, who also serves as director of research at Corewell Health in Grand Rapids, Mich., added that both the patent and research show the power of collaborations as the team first worked with Bachmann at MSU to understand the biochemical nature of the disease, which then gave them the ability to collaborate with Orbus, offering hope for patients and providing a model for scientists to develop treatments for other rare diseases.

Patients with Bachmann-Bupp syndrome have a gene mutation that increases the activity of the enzyme ornithine decarboxylase, or ODC, which causes the ODC protein to accumulate to toxic levels in their bodies. As a result, these children face significant neurological and developmental delays, which manifest as delays in essential milestones such as standing, cruising, or sitting as well as limited fine motor skills.

The treatment, a simple mixture of water and a powder version of eflornithine that can be made into a drink, so far has improved mobility, hair growth and cognitive function in the three patients who have been taking the medication since diagnosis.

“One patient, the youngest to start treatment at just 11 weeks old, is doing spectacularly well to the point where she is reaching normal milestones,” Dr. Bupp said. “Her diagnosis came through rapid-whole genome sequencing, which is exciting because that is something we’ve been spearheading here in Michigan for about four years.”

Rapid-whole genome sequencing offers fast and accurate diagnoses of rare genetic diseases in critically ill children, with results available in less than two days.

“Ultimately, it’s our hope that our model using rapid diagnosis and drug repurposing will help other physicians find treatments faster for rare diseases,” Dr. Bupp said.

While their next step for final FDA approval is undetermined at this point, eventually Bupp and his colleagues hope doctors will simply be able to write a prescription for a child who is born with Bachman-Bupp syndrome with the swipe of a pen.

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