There has been promising progress in the treatment of Marley Berthoud, the patient in whom the rare genetic condition Bachmann-Bupp Syndrome. Named for Pediatrics and Human Development faculty André Bachmann, PhD and Caleb Bupp, MD, who first identified the novel condition in Marley two years ago, Bachmann-Bupp Syndrome is caused by a rare mutation in the ODC1 gene, which is instrumental in the production of polyamines.
To treat Marley, Drs. Bachmann and Bupp, and fellow MSU researcher Surrender Rajasekaran, MD, considered the therapeutic potential of DFMO, a drug that gained popularity in the 1990s in its treatment African Sleeping Sickness. In 2019, Marley's case became the first FDA-approved single-patient study to treat ODC1 mutation with DFMO. Since, she has shown significant improvement in the intervening months. Once struggling to support the weight of her own head, Marley is now able to sit upright and feed herself.
Read more about Marley's treatment and progress here:
Two years into treatment, girl with genetic disorder discovered by MSU docs drastically improved (Lansing State Journal)
And here:
MSU Miracle for Marley (WILX10)
And here:
Marley's marvelous success (MSU Today)