WHAT’S WRONG WITH CONNER?
120 | May• 2019
Meanwhile, at the University of
Missouri, Martin Katz was studying
dogs’ brains for clues to help solve
neuro-developmental problems in
humans. In 2005, he examined tissue
samples from the brain of a one-year-
old dachshund named Frodo that
had died after developing seizures
and ceasing to walk and eat on its
own.
Katz came to a sur-
prising conclusion:
cellular waste that
had accumulated in
Frodo’s brain was es-
sentially identical to
that found in human
subjects who’d died
of Batten disease.
Katz traced Frodo to a
breeder, who agreed
to let Katz adopt two
adult dachshunds,
Captain and Autumn.
Both dogs were per-
fectly healthy; the
genetic mutation that causes Batten
was recessive in their DNA. They
produced several litters, each bearing
a few puppies with Batten disease.
Around 2009, Katz and BioMarin, a
pharmaceutical company that devel-
ops treatments for uncommon genet-
ic disorders, launched a pilot study.
Two puppies received TPP1 infusions
every other week for a few hours at a
time. For a couple of months, Waylon
and Lulu behaved like healthy dogs.
When Batten disease symptoms
finally appeared, they progressed
slowly. Ultimately, Waylon and Lulu
lived 50 per cent longer than the dogs
that didn’t receive TPP1 infusions.
In the summer of 2012, a BioMar-
in researcher presented the study’s
results at a meeting hosted by the
Batten Disease Support and Research
Association. A split-screen video
showed footage of
two puppies that had
had TPP1 injections
to their brains run-
ning around on one
side; on the other, two
dogs of the same age
struggled to walk.
“The whole room
gasped,” said Dr
de los Reyes, who
attended the con-
ference. She initial-
ly considered Katz’s
findings too good to
be true. When her
scepticism subsided,
however, her thoughts turned to the
obvious question: when can we give
this to kids?I
N 2013, BioMarin launched
human trials of the treatment
cerliponase alfa, which it gave
the trade name Brineura. Twenty-one
children would receive infusions at
hospitals in Italy, Germany and Eng-
land. BioMarin also wanted a small
research cohort in the US, and Dr de
los Reyes was adamant that the chil-The
hospital had
concerns.
Delivering
an enzyme
directly to
achild’s
brainwas
a scary
prospect