PTC Therapeutics, Inc. (PTC) announced that PTC124, the company's
orally delivered investigational new drug for the treatment of genetic
disorders due to nonsense mutations, was featured in a symposium at Myology
2008, the Third Annual Congress of Myology, on Friday, May 30 in Marseilles.
The Congress serves as the annual meeting of The Association Francaise contre
les Myopathies (French Muscular Dystrophy Association) and focuses on
research, therapies and clinical trials for various forms of muscular
dystrophy.
PTC124 is being studied in Duchenne muscular dystrophy (DMD), a
progressive muscle disorder in which patients lack dystrophin, a protein that
is critical to the structural stability of muscle fibers. PTC recently
launched a global, registration-directed Phase 2b trial in DMD and Becker
muscular dystrophy (BMD) to evaluate the efficacy of PTC124 as measured by
improvements in the walking ability of patients with this progressive genetic
disease.
Data from the previous Phase 2a study were presented and discussed by a
panel of leading physicians and researchers, including: Dr. Thomas Voit,
M.D., Medical and Scientific Director of the Myology Institute and Dr.
Richard Finkel, M.D., Director of the Neuromuscular Program, Children's
Hospital of Philadelphia, PA.
"PTC124 represents a promising new therapy for DMD/BMD, as there are
currently no available treatments that address the underlying cause of this
disease," stated Dr. Voit. "The Phase 2b PTC124 clinical trial sets a gold
standard for future clinical trials in muscular dystrophies. I am delighted
to be part of these groundbreaking studies."
Presenters at the symposium also announced that the Phase 2b trial of
PTC124 was recently initiated in France, Belgium and Sweden and will begin
enrolling patients in additional European sites in the coming months,
broadening the reach of the clinical development program.
Genetic disorders, such as DMD and cystic fibrosis (CF), are caused by
genetic alterations, known as mutations. By targeting a specific type of
genetic alteration -- nonsense mutations -- PTC124 bypasses the defect and
leads to the restoration of a functional protein. The company has catalogued
over 2,400 distinct genetic disorders for which nonsense mutations are the
cause of the disease in a significant percentage of patients. Nonsense
mutations inactivate gene function and are known to cause anywhere from five
to 70 percent of the individual cases of most of these inherited diseases.
In preclinical models of genetic diseases harboring nonsense mutations,
PTC124 was shown to regulate post-transcriptional control processes by
restoring full-length, functional proteins. Post-transcriptional control
processes are the cellular regulatory events that take place after an RNA
molecule is copied from DNA. These processes are critical to proper cellular
function and provide an opportunity for therapeutic intervention in a broad
range of genetic disorders through the modulation of protein levels.
"We are pleased to have the opportunity to share our exciting clinical
progress regarding PTC124 with the myology community," said Langdon Miller,
M.D., Chief Medical Officer of PTC. "Through its specificity and novel
mechanism of action, PTC124 has shown potential to address a broad range of
genetic disorders due to nonsense mutations. We look forward to continuing to
advance our clinical programs in DMD and CF and evaluating PTC124 in a number
of additional nonsense-mutation-mediated genetic disorders."
About DMD/BMD
Duchenne and Becker muscular dystrophy (DMD/BMD) are progressive muscle
disorders that cause the loss of both muscle function and independence.
DMD/BMD 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). It is estimated that one in 10 DMD patients are likely
to have a Becker presentation, a milder form of the disease that is
associated with later manifestation of symptoms. In essence, DMD and BMD
represent a continuum of the same disease. More information regarding DMD and
BMD is available through the Muscular Dystrophy Association (mdausa),
Parent Project Muscular Dystrophy (parentprojectmd), and the
Association Francaise contre les Myopathies (afm-france).
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 stop 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. PTC124 has demonstrated pharmacodynamic proof of concept in
Phase 2a clinical trials in nonsense-mutation-mediated Duchenne muscular
dystrophy (DMD) and cystic fibrosis (CF).
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 Subpart E designation for expedited development,
evaluation, and marketing and has granted 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 has been 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 General Clinical Research
Center grants from the National Center for Research Resources (NCRR). For
additional information on the PTC124 clinical trial, please visit
clinicaltrials and search using the keyword: PTC124.
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, visit the company's website ptcbio.
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