Have you ever heard of Bachmann-Bupp Syndrome (BABS)? If not, don’t worry, you’re not alone. In fact, BABS was only first discovered over the past few years. According to Medical XPress, one patient who spurred part of the discovery was 3-year-old Marley Berthoud. When Marley’s parents first brought her to Caleb Bupp at the Helen DeVos Children’s Hospital in 2018, Marley presented unique symptoms: developmental delays, a large head size, alopecia (hair loss/baldness), inability to communicate or hold her head up, and low muscle tone. After partial exome sequencing, Bupp discovered an ODC1 gene mutation. Remembering having listened to prior studies on ODC1, Bupp reached out to Dr. André Bachmann, a specialist in the field who has been studying ODC1 for over 25 years.
Between Bachmann and Bupp, the pair were able to identify this particular mutation as causing a novel condition, hence the name. More so, the pair were initially able to identify a list of symptoms associated with BABS. But over the last 16 months, Bachmann and Bupp pulled off something amazing: developing a successful treatment option for Marley and any other patients who are found to have BABS. The treatment is difluoromethylornithine (DFMO), a drug already used for African sleeping sickness and other therapies, which can be repurposed for BABS. Interested in learning more? Take a look at the study published in eLife.
Bachmann-Bupp Syndrome (BABS)
Because Bachmann-Bupp Syndrome (BABS) is still a relatively new condition, the information and knowledge around the condition are also still developing. But here’s what we know so far.
According to OMIM, BABS may also be referred to as Neurodevelopmental Disorder with Alopecia and Brain Abnormalities (NEDABA). The syndrome is inherited in an autosomal dominant pattern, meaning patients require only one defective gene. As described by OMIM, BABS is:
a neurometabolic disorder associated with global developmental delay, ectodermal abnormalities including alopecia, absolute or relative macrocephaly, dysmorphic features, and characteristic neuroimaging features.
Thus far, potential symptoms associated with BABS include:
- Alopecia
- Macrocephaly (abnormally large head size)
- Drooping eyelids
- Developmental delays
- Cerebral calcification
- Abnormally large distance between the eyes
- Broad, high forehead
- Low muscle tone
- Hearing loss
- Brain abnormalities
- Undescended testicles
- High palate
The Research
In Marley’s case, her genetic mutation caused ODC protein to accumulate throughout her body. Through prior research, DFMO was shown to reduce or inactivate ODC protein. Additionally, the therapy was shown to be relatively safe and well-tolerated. Thus, researchers considered that DFMO might be an adequate BABS treatment. In 2019, Marley was treated with DFMO for the first time. Many times, treating a patient with a rare disease or condition – especially a relatively new one – takes a lot of time. For Marley, it took just 16 months.
So how has Marley progressed so far while taking DFMO? Pretty well, according to everyone involved! In addition to growing her muscle tone, Marley also now has a full head of hair, can crawl and feed herself without assistance, and is even able to communicate using sign language. Testing via Metabolon has also shown that, biologically, Marley’s body is responding well to treatment.
