PTC
Therapeutics Announces Additional Results from Phase 2 Study
of PTC124 in Duchenne Muscular Dystrophy
Data
Presented at
the World Muscle Society International Congress
Patients with DMD are boys
and young men who lack dystrophin, a protein that is critical to the structural
stability of muscle fibers. This
Phase 2 multi-site, open-label, dose-ranging clinical trial enrolled 38 boys
with loss of dystrophin due to a nonsense mutation in the dystrophin gene. Participants also had substantially
elevated serum creatine kinase levels due to the disease, and symptoms
associated with DMD. Boys enrolled
in the trial received 28 days of PTC124 treatment at one of three dose levels,
with the primary endpoint of the trial being an increase in dystrophin
expression in muscle. Pre- and
post-treatment muscle biopsies and blood analyses to assess muscle-derived
creatine kinase were available from all 38 patients.
An in vitro analysis
demonstrated PTC124-induced dystrophin expression in cultured muscle cells from
all 35 (100%) of the boys with samples evaluable in this analysis. The in vivo data indicated that, across
all three dose levels of PTC124, 18/38 (47%) of patients demonstrated visible
improvement in the staining for dystrophin from muscle biopsies. Response did not appear to be dependent
on type of nonsense mutation.
Blood levels of
muscle-derived creatine kinase were also measured as assessments of muscle
integrity. Statistically
significant reductions in the concentrations of muscle-derived creatine kinase
were observed during PTC124 treatment. In addition, several parents and teachers
reported that boys participating in the study had improvements in terms of
greater activity level and increased endurance during the study duration.
“We are very encouraged by
these results, which show improvements in critical biomarkers of DMD,” said
presenter and study investigator, Carsten
Bönnemann,
M.D., Assistant Professor Neurology and Pediatrics, Children's
“Coupled with the emerging
safety profile of PTC124, these data provide the impetus for moving forward
rapidly to initiate longer-term studies for boys with DMD,” said Langdon Miller,
M.D., Chief Medical Officer of PTC. “We are actively working with our
clinical investigators and the regulatory agencies to finalize plans for
additional clinical trials and we look forward to commencing these studies in
the coming months.”
Stuart W. Peltz, Ph.D.,
President and Chief Executive Officer of PTC Therapeutics added, “These results,
combined with the data presented earlier this month at the Child Neurology
Society meeting and North American Cystic Fibrosis
About
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy
(DMD) is a progressive muscle disorder that causes the loss of both muscle
function and independence. DMD is
perhaps the most prevalent of the muscular dystrophies and is the most common
lethal genetic disorder diagnosed during childhood today. Each year, approximately 20,000 children
worldwide are born with DMD (one of every 3,500 male children). More information regarding DMD is
available through the Muscular Dystrophy Association (www.mdausa.org) and the
Parent Project Muscular Dystrophy
(www.parentprojectmd.org).
About PTC124
PTC124 is an orally
delivered investigational new drug in Phase 2 clinical development for the
treatment of genetic disorders due to nonsense mutations. Nonsense mutations are single-point
alterations in the genetic code that prematurely halt the translation process,
producing a shortened, non-functional protein. PTC124 has restored production of
full-length, functional proteins in preclinical genetic disease models harboring
nonsense mutations. In Phase 1
clinical trials, PTC124 was generally well tolerated, achieved target plasma
concentrations that have been associated with activity in preclinical models and
did not induce ribosomal read through of normal stop codons. PTC is currently conducting Phase 2
clinical trials of PTC124 in nonsense-mutation-mediated cystic fibrosis (CF) and
Duchenne muscular dystrophy (DMD).
It is estimated that 10% of
the cases of CF and 13% of the cases of DMD are due to nonsense mutations. PTC believes that PTC124 is potentially
applicable to a broad range of other genetic disorders in which a nonsense
mutation is the cause of the disease. The FDA has granted PTC124 Fast-Track
designations and Orphan Drug designations for the treatment of CF and DMD due to
nonsense mutations. PTC124 has also
been granted orphan drug status for the treatment of CF and DMD by the European
Commission. PTC124’s development is
supported by grants from the Muscular Dystrophy Association (MDA), Cystic
Fibrosis Foundation Therapeutics, Inc. (CFFT), Parent Project Muscular Dystrophy
(PPMD), FDA’s Office of Orphan Products Development (OOPD) and by
About
PTC Therapeutics, Inc.
PTC is a biopharmaceutical
company focused on the discovery, development and commercialization of orally
administered, proprietary, small-molecule drugs that target post-transcriptional
control processes. Post-transcriptional control processes
regulate the rate and timing of protein production and are of central importance
to proper cellular function. PTC’s
internally-discovered pipeline addresses multiple therapeutic areas, including
genetic disorders, oncology and infectious diseases. In addition, PTC has developed
proprietary technologies and extensive knowledge of post-transcriptional control
processes that it applies in its drug discovery and development activities,
including the Gene Expression Modulation by Small-molecules (GEMS) technology
platform, which has been the basis for collaborations with leading
pharmaceutical and biotechnology companies such as Pfizer, Celgene, CV
Therapeutics and Schering-Plough.
For more
information
Jane
Baj PTC
Therapeutics,
Inc. (908)
222-7000, x167 jbaj@ptcbio.com
|
Sheryl
Seapy Pure
Communications (949)
608-0841 |