PTC Therapeutics Initiates Phase 2 Study of PTC124 in Duchenne Muscular Dystrophy

27 Jan, 2006, 00:00 ET from PTC Therapeutics, Inc.

    SOUTH PLAINFIELD, N.J., Jan. 27 /PRNewswire/ -- PTC Therapeutics, Inc.
 (PTC), a biopharmaceutical company focused on the discovery, development, and
 commercialization of small-molecule drugs targeting post-transcriptional
 control mechanisms, today announced the initiation of a Phase 2 study of
 PTC124 in patients with Duchenne muscular dystrophy (DMD) due to a nonsense
 mutation.  PTC124 is a novel, orally administered drug that targets nonsense
 mutations and is being investigated initially as a treatment for DMD and
 cystic fibrosis (CF), with the potential to treat a number of other genetic
 disorders caused by nonsense mutations.
     (Logo:  http://www.newscom.com/cgi-bin/prnh/20010919/PTCLOGO )
     "The initiation of the Phase 2 study of PTC124 in DMD marks a wonderful
 milestone for PTC in its search for new treatments for DMD," commented Stuart
 W. Peltz, Ph.D., President and CEO of PTC, adding, "We share the gratification
 of this achievement with patients, their families, patient advocacy groups,
 and investigators who have supported and helped guide our efforts.  We hope
 that information gained from this study will support the further development
 of PTC124, and complement our efforts to discover and develop additional
 therapies for boys with DMD."
     The Phase 2 clinical study is enrolling patients who have DMD due to the
 presence of a nonsense mutation in the dystrophin gene.  The primary endpoint
 of this Phase 2 multi-site, open-label, dose-ranging clinical study is
 assessment of muscle dystrophin expression in response to treatment with
 PTC124.  Other assessments include the presence of dystrophin mRNA and
 dystrophin-related proteins, muscle function, compliance with treatment,
 safety, and pharmacokinetics.
     "With the initiation of the Phase 2 study, we hope to establish proof-of-
 concept for PTC124 in nonsense-mutation-mediated DMD," said Langdon Miller,
 M.D., Chief Medical Officer at PTC.  "Building on the positive preclinical
 data with PTC124 that Doctors Lee Sweeney and Elisabeth Barton have generated
 in their laboratories at the University of Pennsylvania, we have worked
 closely with scientists and investigators to design a study that can examine
 whether the encouraging preclinical findings with PTC124 translate to the
 clinical setting.  Demonstration of pharmacological activity in this study
 would be an important step toward evaluating the longer-term clinical benefits
 of PTC124."
     Dr. Valerie Cwik, Medical Director of the Muscular Dystrophy Association
 (MDA), commented: "The start of the PTC124 study opens a new era in clinical
 trials for DMD, by testing a drug specifically aimed at overcoming the genetic
 defect that causes the disease.  We at MDA are very excited that this
 potential treatment is now in clinical trials for DMD."
     PTC has commenced recruitment for the Phase 2 study in DMD at the
 Children's Hospital of Philadelphia in Philadelphia, PA, the Cincinnati
 Children's Hospital Medical Center in Cincinnati, OH and the University of
 Utah in Salt Lake City, UT.  More details regarding the design and conduct of
 this study are available at http://www.clinicaltrials.gov.
     "Given the lack of effective targeted treatment for DMD, there is
 tremendous interest in the development of PTC124 within the DMD patient and
 scientific communities," commented Dr. Richard Finkel, Director, Neuromuscular
 Program, Children's Hospital of Philadelphia.  "We are excited by the results
 in the animal model and are delighted to collaborate with PTC and the other
 investigational sites in designing and conducting this important study in boys
 with DMD."
     PTC also has Phase 2 clinical trials for PTC124 underway with CF patients
 in the United States and in Israel.  More information regarding these trials
 can be found at http://www.clinicaltrials.gov.
 
     About PTC Therapeutics, Inc.
     PTC is a privately-held biopharmaceutical company focused on the
 discovery, development, and commercialization of small-molecule drugs
 targeting post-transcriptional control mechanisms.  Post-transcriptional
 control processes are the sequence of events in the cell that ultimately
 regulate the rate and timing of all protein production.  PTC discovers and
 develops small molecule drugs that alter these processes by selectively
 modulating how RNA is used to produce proteins.  This approach enables PTC to
 advance its drug discovery programs rapidly from targets to preclinical and
 clinical drug candidates, building a pipeline across multiple therapeutic
 areas including genetic disorders, oncology, and infectious diseases.
 
     About PTC124
     PTC124 represents a first-in-class, orally delivered investigational new
 drug 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.  In pre-clinical trials, PTC124 allowed the cellular
 machinery to bypass the nonsense mutation, continue the translation process,
 and thereby restore the production of a full-length, functional protein.
 PTC124 has demonstrated activity in preclinical genetic disease models
 harboring nonsense mutations.  In Phase 1 clinical studies, PTC124 was
 generally well tolerated, achieved target plasma concentrations that have been
 associated with activity in preclinical models, and did not induce ribosomal
 readthrough of normal stop codons.  Pharmacokinetic modeling of the Phase 1
 results has allowed development of a dosing regimen for the Phase 2 studies in
 cystic fibrosis (CF) and Duchenne muscular dystrophy (DMD).  It is estimated
 that 10% of the cases of CF and 15% of the cases of DMD are due to nonsense
 mutations.  In addition to CF and DMD, other potential indications include
 hemophilia, neurofibromatosis, retinitis pigmentosa, epidermolysis bullosa,
 and lysosomal storage disorders.  PTC124 may represent a unique opportunity to
 use a single small-molecule drug to address multiple chronic and life-
 threatening diseases of high unmet medical need.  The FDA has granted PTC124
 fast-track designation for the treatment of CF 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 DMD and CF by the
 Committee for Orphan Medicinal Products (COMP) of the European Medicines
 Agency (EMEA).  PTC124's development is supported by grants from the Muscular
 Dystrophy Association (MDA), Cystic Fibrosis Foundation Therapeutics, Inc.
 (CFFT), FDA's Office of Orphan Products Development (OOPD), and by General
 Clinical Research Center grants from the National Center for Research
 Resources (NCRR).
 
     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 (http://www.mdausa.org) and the Parent Project Muscular
 Dystrophy (http://www.parentprojectmd.org).
 
 

SOURCE PTC Therapeutics, Inc.
    SOUTH PLAINFIELD, N.J., Jan. 27 /PRNewswire/ -- PTC Therapeutics, Inc.
 (PTC), a biopharmaceutical company focused on the discovery, development, and
 commercialization of small-molecule drugs targeting post-transcriptional
 control mechanisms, today announced the initiation of a Phase 2 study of
 PTC124 in patients with Duchenne muscular dystrophy (DMD) due to a nonsense
 mutation.  PTC124 is a novel, orally administered drug that targets nonsense
 mutations and is being investigated initially as a treatment for DMD and
 cystic fibrosis (CF), with the potential to treat a number of other genetic
 disorders caused by nonsense mutations.
     (Logo:  http://www.newscom.com/cgi-bin/prnh/20010919/PTCLOGO )
     "The initiation of the Phase 2 study of PTC124 in DMD marks a wonderful
 milestone for PTC in its search for new treatments for DMD," commented Stuart
 W. Peltz, Ph.D., President and CEO of PTC, adding, "We share the gratification
 of this achievement with patients, their families, patient advocacy groups,
 and investigators who have supported and helped guide our efforts.  We hope
 that information gained from this study will support the further development
 of PTC124, and complement our efforts to discover and develop additional
 therapies for boys with DMD."
     The Phase 2 clinical study is enrolling patients who have DMD due to the
 presence of a nonsense mutation in the dystrophin gene.  The primary endpoint
 of this Phase 2 multi-site, open-label, dose-ranging clinical study is
 assessment of muscle dystrophin expression in response to treatment with
 PTC124.  Other assessments include the presence of dystrophin mRNA and
 dystrophin-related proteins, muscle function, compliance with treatment,
 safety, and pharmacokinetics.
     "With the initiation of the Phase 2 study, we hope to establish proof-of-
 concept for PTC124 in nonsense-mutation-mediated DMD," said Langdon Miller,
 M.D., Chief Medical Officer at PTC.  "Building on the positive preclinical
 data with PTC124 that Doctors Lee Sweeney and Elisabeth Barton have generated
 in their laboratories at the University of Pennsylvania, we have worked
 closely with scientists and investigators to design a study that can examine
 whether the encouraging preclinical findings with PTC124 translate to the
 clinical setting.  Demonstration of pharmacological activity in this study
 would be an important step toward evaluating the longer-term clinical benefits
 of PTC124."
     Dr. Valerie Cwik, Medical Director of the Muscular Dystrophy Association
 (MDA), commented: "The start of the PTC124 study opens a new era in clinical
 trials for DMD, by testing a drug specifically aimed at overcoming the genetic
 defect that causes the disease.  We at MDA are very excited that this
 potential treatment is now in clinical trials for DMD."
     PTC has commenced recruitment for the Phase 2 study in DMD at the
 Children's Hospital of Philadelphia in Philadelphia, PA, the Cincinnati
 Children's Hospital Medical Center in Cincinnati, OH and the University of
 Utah in Salt Lake City, UT.  More details regarding the design and conduct of
 this study are available at http://www.clinicaltrials.gov.
     "Given the lack of effective targeted treatment for DMD, there is
 tremendous interest in the development of PTC124 within the DMD patient and
 scientific communities," commented Dr. Richard Finkel, Director, Neuromuscular
 Program, Children's Hospital of Philadelphia.  "We are excited by the results
 in the animal model and are delighted to collaborate with PTC and the other
 investigational sites in designing and conducting this important study in boys
 with DMD."
     PTC also has Phase 2 clinical trials for PTC124 underway with CF patients
 in the United States and in Israel.  More information regarding these trials
 can be found at http://www.clinicaltrials.gov.
 
     About PTC Therapeutics, Inc.
     PTC is a privately-held biopharmaceutical company focused on the
 discovery, development, and commercialization of small-molecule drugs
 targeting post-transcriptional control mechanisms.  Post-transcriptional
 control processes are the sequence of events in the cell that ultimately
 regulate the rate and timing of all protein production.  PTC discovers and
 develops small molecule drugs that alter these processes by selectively
 modulating how RNA is used to produce proteins.  This approach enables PTC to
 advance its drug discovery programs rapidly from targets to preclinical and
 clinical drug candidates, building a pipeline across multiple therapeutic
 areas including genetic disorders, oncology, and infectious diseases.
 
     About PTC124
     PTC124 represents a first-in-class, orally delivered investigational new
 drug 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.  In pre-clinical trials, PTC124 allowed the cellular
 machinery to bypass the nonsense mutation, continue the translation process,
 and thereby restore the production of a full-length, functional protein.
 PTC124 has demonstrated activity in preclinical genetic disease models
 harboring nonsense mutations.  In Phase 1 clinical studies, PTC124 was
 generally well tolerated, achieved target plasma concentrations that have been
 associated with activity in preclinical models, and did not induce ribosomal
 readthrough of normal stop codons.  Pharmacokinetic modeling of the Phase 1
 results has allowed development of a dosing regimen for the Phase 2 studies in
 cystic fibrosis (CF) and Duchenne muscular dystrophy (DMD).  It is estimated
 that 10% of the cases of CF and 15% of the cases of DMD are due to nonsense
 mutations.  In addition to CF and DMD, other potential indications include
 hemophilia, neurofibromatosis, retinitis pigmentosa, epidermolysis bullosa,
 and lysosomal storage disorders.  PTC124 may represent a unique opportunity to
 use a single small-molecule drug to address multiple chronic and life-
 threatening diseases of high unmet medical need.  The FDA has granted PTC124
 fast-track designation for the treatment of CF 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 DMD and CF by the
 Committee for Orphan Medicinal Products (COMP) of the European Medicines
 Agency (EMEA).  PTC124's development is supported by grants from the Muscular
 Dystrophy Association (MDA), Cystic Fibrosis Foundation Therapeutics, Inc.
 (CFFT), FDA's Office of Orphan Products Development (OOPD), and by General
 Clinical Research Center grants from the National Center for Research
 Resources (NCRR).
 
     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 (http://www.mdausa.org) and the Parent Project Muscular
 Dystrophy (http://www.parentprojectmd.org).
 
 SOURCE  PTC Therapeutics, Inc.