NOVATO, Calif., Aug. 15, 2011 /PRNewswire/ — Ultragenyx
Pharmaceutical Inc., a biotechnology company focused on developing
treatments for rare and ultra-rare genetic disorders, today
announced the dosing of the first patient in a Phase 1 study of
UX001 for hereditary inclusion body myopathy (HIBM). UX001 is an
extended release formulation of sialic acid intended as a substrate
replacement therapy for HIBM, a severe, progressive, genetic
neuromuscular disease caused by sialic acid deficiency. UX001 is
the first program from the company’s pipeline to enter the clinic
since its founding in 2010.
“Advancing UX001 to the clinic is an important milestone for
both Ultragenyx and for patients suffering with HIBM,” said Emil D.
Kakkis, MD, PhD, Chief Executive Officer of Ultragenyx. “HIBM is
one of many rare diseases that lack treatment, but for which good
science exists on how it might be treated. Ultragenyx’s goal is to
be a leader in rare disease therapeutics by rapidly and efficiently
transforming existing science into effective treatments for rare
diseases that have been neglected in the past.”
The Phase 1 clinical study will evaluate the pharmacokinetics
(PK) and safety of UX001 in 24 HIBM patients at two centers in New
York and Los Angeles. The study will test four different
single-dose levels in each group of six subjects. Subjects will
then undergo repeat dosing at three dose levels over 7 days to
establish the steady-state pharmacokinetics and safety of repeat
doses of UX001. Ultragenyx anticipates data from the Phase 1
study in late 2011.
About HIBM and UX001
HIBM, which is also known as distal myopathy with rimmed
vacuoles (DMRV) and Nonaka disease, is a severe, adult-onset muscle
disease caused by a defect in an enzyme responsible for the first
step of sialic acid biosynthesis. With deficiency of this
enzyme, the patient’s muscles are deficient in sialic acid needed
for the synthesis of proteins and fats. Pat
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