Bachmann-Bupp syndrome and treatment.
André S Bachmann, Elizabeth A VanSickle, Julianne Michael and 2 others
PMID 37469105WHAT IT FOUND
In the first patient with Bachmann-Bupp syndrome, DFMO treatment led to hair regrowth within two months.
By four months, the child began sitting unassisted and self-feeding. Follicular cysts stopped recurring in two treated patients. This is single-case evidence, not proof of efficacy.
Key findings
01The first patient treated with DFMO showed significant clinical improvement, including eyebrow and scalp hair growth at 1 and 2 months, and the ability to sit unassisted and self-feed at 4 months.
02In two patients treated with DFMO, recurring follicular cysts did not recur after initiation of treatment.
03Biochemical analysis of the first patient's cells confirmed that the condition involves accumulation of enzymatically active ODC protein and elevated putrescine levels, which DFMO normalized in vitro.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The evidence for treatment efficacy is based on a single patient (n-of-1) and a small number of cases (11 published), making it impossible to determine if the improvements were due to the drug, natural development, or concurrent therapies. The paper is a narrative review and case report, not a controlled trial, so there is no comparison group to establish causality. Standardized outcome measures were largely absent across the reported patients, making it difficult to compare severity or progress objectively. The long-term safety and efficacy of DFMO in BABS are unknown, as the reported patient has only been treated for just over 3 years. The authors have significant financial conflicts of interest, including patents and consulting fees related to the treatment discussed.
Declared interests
Authors ASB and CPB are listed inventors of a US patent on the method of treating developmental disorders associated with ODC1 mutations. Michigan State University and Corewell Health have an exclusive licensing agreement with Orbus Therapeutics. CPB provides consulting services for Orbus Therapeutics.
The easy way to misread this
Do not assume DFMO will improve developmental delays or speech outcomes in other patients with BABS. The dramatic motor improvements described occurred in a single child and cannot be separated from the effects of natural development or concurrent rehabilitation therapies.