The Scientist - USA (2021-12)

http://www.integra-biosciences.com

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mal version, which is typically broken down

in the cell within just 20 minutes of its pro-

duction. “In Marley’s case, because that end

of the protein is missing, the mechanism to

clear it is jammed,” Bachmann says.

Shortly after meeting, the team pub-

lished an early account (Am J Med Genet

A, 176:2548–53, 2018) of Marley’s disease

and started brainstorming ways to treat

it. Bachmann had one idea: an ODC-

inhibiting drug called difluoromethy-

lornithine (DFMO). Initially approved in

1990 to treat African sleeping sickness,

DFMO had since shown promise in clini-

cal trials for pediatric neuroblastoma and

colon cancer, while preclinical evidence

from a 1996 mouse model that coinci-

dentally mimicked BABS—the mice also

accumulated ODC and had a similar phe-

notype, including silver hair that quickly

fell out—demonstrated that DFMO

reversed many of their symptoms. To test

the drug against Marley’s specific muta-

tion, the researchers cultured some of

the girl’s skin cells and found that DFMO

reduced ODC activity.

Even with no guarantee of success, the

Berthouds agreed to try DFMO, and Mar-

ley began taking the drug on a compas-

sionate use basis when she was four years

old. A month later, she sprouted the unex-

pected eyebrows. Having known Marley

for most of her life, Bupp recalls the day

he heard about it as “one of the best days

of my life.”

Marley grew not only eyebrows, but

eyelashes and a full head of sandy-blonde

hair; the team documented these and

other changes in a recent eLife publication

(10:e67097, 2021). Within six months,

she was able to sit up by herself, and

today she’s able to scoot around and trade

high fives with her brothers. Last winter,

she tried sledding. Post-treatment MRIs

showed that myelination in the white

matter of her brain had increased, signs

that the drug, which she takes twice daily,

might be spurring neurological improve-

ments. The team also sent blood samples

to a company called Metabolon that spe-

cializes in detecting biomarkers of rare

diseases. Their tests, which involved com-

paring her samples to a reference cohort

of almost 900 pediatric patients, con-

firmed that the drug normalized Marley’s

levels of a well-studied polyamine called

Marley grew not only eyebrows, but eyelashes and a full head

of sandy-blonde hair.