Awards, Children’s Health, Research & Technology, Spectrum Health West Michigan
May 15, 2023
Grand Rapids, Michigan, May 15, 2023 – For the small number of children around the world with an ultra-rare disease called Buckman-Bapp syndrome, a cure discovered in just 15 months by the team that identified the disease could dramatically change their young lives. is changing. Her two doctors at Corewell Health are now part of a group that has been nationally recognized by the New York Intellectual Property Law Society for the Inventor of the Year Award, which will be presented in New York City on May 10, 2023. .
Cowell Health and Michigan State University (MSU) were co-invented by geneticist Caleb Buppu, Ph.D., pediatric intensivist Dr. Srender Rajasekaran, and MSU College of Human Medicine researcher, Dr. Andre Bachmann. Licensed patent portfolio. Orbas Therapeutics, Inc. The patent covers a novel use of a drug called eflornithine, also known as DFMO, for a rare syndrome. Once called the “resurrection drug,” the drug has been around for decades and has been used to treat West African sleeping sickness.
“The effects of this drug were so dramatic that people were practically waking up from sleeping sickness coma, and the World Health Organization has been using it for compassionate reasons ever since,” Bapp said. said Dr. “Its decades of history of use helped lay the foundation and gave us the confidence to launch it as a safe treatment for our patients.”
Currently, it can take up to 17 years for proven research results and treatments to reach patients. However, it may take longer for rare diseases.
“It is very difficult to achieve drug development for rare diseases when there are only a handful of patients with rare diseases in the world,” Dr. Bapp said. “We already had an existing animal model with safety data, substantial clinical data and an appropriate dosing protocol that allowed us to safely and effectively reuse this drug.”
Dr. Rajasekaran, who is also director of research at Cowell Health in Grand Rapids, Michigan, said both the patent and the research are areas of collaboration, as the team collaborated with MSU’s Buckman for the first time to understand the biochemistry of the disease. He added that it shows strength. This has enabled us to work with Orbus to bring hope to patients and provide a model for scientists to develop treatments for other rare diseases.
People with Bachman-Wapp syndrome have a genetic mutation that increases the activity of the enzyme ornithine decarboxylase (ODC), causing the ODC protein to build up in the body to toxic levels. As a result, these children face significant neurological and developmental delays, manifesting as delays in key milestones such as standing, running, and sitting, and limitations in fine motor skills.
The treatment simply mixes water with powdered eflornithine to make a drink, and so far it has improved mobility, hair growth and cognitive function in three patients who have taken the drug since diagnosis. there is
“One of the youngest patients to start treatment at 11 weeks of age is doing remarkably well to the usual milestones,” Dr. Bapp said. “Her diagnosis came from rapid whole-genome sequencing, which is very interesting because we’ve been spearheading this for about four years here in Michigan.”
Rapid whole-genome sequencing enables rapid and accurate diagnosis of rare genetic disorders in critically ill children, with results within two days.
“Ultimately, we hope our model, which utilizes rapid diagnosis and drug reuse, will help other physicians find cures for rare diseases faster,” said Dr. Bapp. rice field.
The next steps toward final FDA approval are not yet known, but Bapp and others say eventually doctors will be able to write prescriptions for children born with Bachman-Bapp syndrome with the swipe of a pen. I hope
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