Sleeping Sickness Drug Shows Promise for Rare Bachmann-Bupp Syndrome

The news coming out of Corewell Health in Grand Rapids, Michigan, feels like a genuine turning point for families grappling with the incredibly rare Bachmann-Bupp syndrome, or BABS. Whereas the story originates with a decades-old drug initially developed to combat sleeping sickness, its potential to alleviate suffering for children with this devastating genetic disorder is resonating far beyond West Michigan. Here in Austin, Texas, where we’re seeing a growing influx of families seeking specialized medical care, the implications of this research are particularly significant. It highlights the power of “drug repurposing” – finding new uses for existing medications – and the critical role of collaborative research.

Understanding Bachmann-Bupp Syndrome and the Promise of DFMO

BABS is an ultra-rare genetic disorder, currently diagnosed in just 20 individuals worldwide, caused by mutations in the ODC1 gene. These mutations lead to severe neurodevelopmental delays, poor muscle tone and hair loss. As Dr. Caleb Bupp of Corewell Health explains, identifying and treating these conditions requires a dedicated, collaborative approach. The drug showing promise, difluoromethylornithine – known as DFMO or eflornithine – works by inhibiting the ODC protein, effectively slowing down the activity of the mutated gene. Initial treatments have been encouraging, but as the research team notes, navigating the regulatory hurdles and logistical challenges of expanding access to treatment remains a significant obstacle.

The collaboration between Corewell Health, Michigan State University, and Every Cure, a nonprofit biotech group, is central to this progress. Every Cure’s expertise in navigating regulatory pathways and compliance is proving invaluable, as Dr. Bupp emphasized, opening doors that would otherwise remain closed. This partnership model is particularly noteworthy, demonstrating how non-profit organizations can accelerate medical breakthroughs by bridging the gap between research and practical application. The fact that the first patient diagnosed with BABS, Marley Berthoud of Mattawan, Michigan, benefited from this early treatment underscores the potential impact of this research.

The Broader Context of Drug Repurposing

The story of DFMO and BABS isn’t an isolated incident. Drug repurposing is gaining traction as a faster, more cost-effective alternative to developing entirely new drugs. Traditionally, bringing a new drug to market can take over a decade and cost billions of dollars. Repurposing existing drugs, which have already undergone safety testing, significantly reduces both the time and financial investment. This approach is particularly appealing for rare diseases like BABS, where the small patient population makes traditional drug development financially unviable.

Here in Austin, the Dell Medical School at the University of Texas is actively involved in research exploring drug repurposing strategies. Their focus on personalized medicine aligns perfectly with the potential of DFMO, as the drug’s effectiveness may vary depending on the specific genetic mutation causing BABS in each patient. The Central Texas Rare Disease Consortium, a local organization dedicated to supporting families affected by rare diseases, could play a crucial role in connecting BABS patients with the latest research and treatment options. The presence of major pharmaceutical companies like Pfizer and Eli Lilly in the region likewise creates a potential ecosystem for collaboration and innovation in this field.

Regulatory Challenges and the Path Forward

Despite the promising early results, expanding access to DFMO for BABS patients isn’t straightforward. The drug is currently available under an FDA-approved, single-patient investigational protocol, meaning each patient requires individual approval. Streamlining this process and establishing a broader treatment pathway is a key priority for the research team. Every Cure’s involvement in navigating these regulatory complexities is crucial, but continued advocacy and collaboration with the FDA will be essential. The team is actively seeking patients for a preclinical study, which will provide further data to support broader treatment access.

Navigating the Landscape: A Local Resource Guide for Austin Families

Given my background in genetic counseling and rare disease advocacy, if this trend impacts you or a loved one in the Austin area, here are three types of local professionals you’ll want to connect with:

Pediatric Geneticists

Look for a board-certified pediatric geneticist with experience in diagnosing and managing rare genetic disorders. Specifically, inquire about their familiarity with neurodevelopmental conditions and their involvement in clinical trials. Dell Children’s Medical Center is a leading resource for pediatric genetics in the region.

Neurologists Specializing in Neurodevelopmental Disorders

A neurologist specializing in neurodevelopmental disorders can provide comprehensive assessments and ongoing management of the neurological symptoms associated with BABS. Seek a neurologist affiliated with a major academic medical center, like UT Health Austin, to ensure access to the latest diagnostic and treatment options.

Rare Disease Advocates &amp. Patient Navigators

Navigating the complexities of rare disease diagnosis, treatment, and insurance coverage can be overwhelming. A rare disease advocate or patient navigator can provide invaluable support and guidance. The Central Texas Rare Disease Consortium is an excellent starting point for finding local resources and support groups.

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