السلام عليكم ورحمة الله وبركاته
في الأوان الأخيرة
بدأت تناقل الأخبار بشأن علاج
PTC124
هو علاج يصلح العطب الجيني المسبب لمرض ضمور العضلات
الحثل العضلي بكل أنواعه
فكرة الدواء جاءت من أمريكا
الممول أمريكا و جمعية جمع التبرعات لمرضى ضمور العضلات
الفكرة كانت من سنوات طويلة انا بعرف عن العلاج من 3 سنوات تقريباً
علاج مهم جداً كان الوعد الأخير لهم انهم ينزلو في الأسواق
هذه السنة سنة 2009
و الحمدلله آخر الاخبار التي نقلتها
تقول
في خبر ورد في شهر 2 من موقع PTC124
الخاص بدواء معالجة الطفرات الجينية عن مرضى ضمور العضلات
و أثبت نجاحو على مرض دوشين و بيكر
و أطلقو الإسم التجاري لدواء و إسم ataluren
هاد حسب ما ورد في الموقع وهاد رابط الخبر باللغة الإنجليزية
http://ptct.client.shareholder.com/releasedetail.cfm?ReleaseID=363177
أنا في إنتظار تسويق الدواء
للأسف وصلني الآن انه الدواء انها فقط المرحلة الثانية من التجارب
و هو بلفعل نجح لاكن بدهم يستمرو ل سنة 2010 و ممكن تطلع النتائج الأخير
في اغسطس 2010 يعني الدواء بده سنة و نصف على الأقل
أنا كنت متخيلة أو فاهمة من الموقع انه خلال هذه السنة
لانهم وعدونا في اخبار حلوة سنة
2009
يا رب
عجل الفرج
يـــا رب
دعواتكم لنا
أحضرت لكم من الموقع
موضوع باللغة الانجليزية يشرح كيفية عمل العلاج
كيف يدخل على العضلة و يمهد امام الغذاء
يعني العطب في مكان معياً و يصلح العطب بحيث
يتمكن الغذا من مواصلة طريقة لجميع عضلات الجسم
و تعدد انواع المرض هو نتيجة مكان وجود العطب
كل مكان له تأثير مختلف عن اماكن اخرى
مثلاً في انواع شديدة تصل إلى
عضلة النتفس
و في انواع مثل مرضي فقط الاطراف
هو هذا يعتمد على مكان وجود العطب
و أخيراً إليكم شرح كيفية عمل الدواء
مع صورة و فيديو
Ataluren (formerly PTC124™) is the first investigational new drug designed to enable the formation of a functioning protein in patients with genetic disorders due a nonsense mutation.
A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. Ataluren is currently being investigated for use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) and nonsense mutation cystic fibrosis (nmCF).
Click here to read Frequently Asked Questions about ataluren.
Figure 1. Translation of an mRNA into protein: comparison of normal translation, premature termination of translation, and treatment with ataluren inducing synthesis of functioning protein.
Mechanism of Action
In healthy individuals, ribosomes translate the informational code in the mRNA into protein until arriving at a normal stop signal in the mRNA, at which point the ribosome appropriately stops translation and a functioning protein results.
Nonsense mutations, however, create a premature stop signal in the mRNA. This premature stop signal causes the ribosome to halt translation before a functioning protein is generated, creating a shortened, nonfunctioning protein. The resulting disease is determined by which protein cannot be expressed in its entirety and is no longer functional (eg, the dystrophin protein in nmDMD or the CFTR protein in nmCF).
Ataluren is designed to allow the ribosome to ignore the premature stop signal and continue translation of the mRNA, resulting in formation of a functioning protein. Ataluren does not cause the ribosomes to read through the normal stop signal.
Ataluren, taken orally, has the potential to address the underlying cause of the disease by overriding the premature stop signal, enabling the synthesis of a functioning protein. Ataluren does not alter the patient’s genetic code or introduce genetic materials into the body.
Click on the video below to listen to Dr. Langdon Miller, Chief Medical Officer of PTC Therapeutics explain how ataluren (PTC124) works.
http://www.youtube.com/watch?v=7tRN5kC8-_8
في الأوان الأخيرة
بدأت تناقل الأخبار بشأن علاج
PTC124
هو علاج يصلح العطب الجيني المسبب لمرض ضمور العضلات
الحثل العضلي بكل أنواعه
فكرة الدواء جاءت من أمريكا
الممول أمريكا و جمعية جمع التبرعات لمرضى ضمور العضلات
الفكرة كانت من سنوات طويلة انا بعرف عن العلاج من 3 سنوات تقريباً
علاج مهم جداً كان الوعد الأخير لهم انهم ينزلو في الأسواق
هذه السنة سنة 2009
و الحمدلله آخر الاخبار التي نقلتها
تقول
في خبر ورد في شهر 2 من موقع PTC124
الخاص بدواء معالجة الطفرات الجينية عن مرضى ضمور العضلات
و أثبت نجاحو على مرض دوشين و بيكر
و أطلقو الإسم التجاري لدواء و إسم ataluren
هاد حسب ما ورد في الموقع وهاد رابط الخبر باللغة الإنجليزية
http://ptct.client.shareholder.com/releasedetail.cfm?ReleaseID=363177
أنا في إنتظار تسويق الدواء
للأسف وصلني الآن انه الدواء انها فقط المرحلة الثانية من التجارب
و هو بلفعل نجح لاكن بدهم يستمرو ل سنة 2010 و ممكن تطلع النتائج الأخير
في اغسطس 2010 يعني الدواء بده سنة و نصف على الأقل
أنا كنت متخيلة أو فاهمة من الموقع انه خلال هذه السنة
لانهم وعدونا في اخبار حلوة سنة
2009
يا رب
عجل الفرج
يـــا رب
دعواتكم لنا
أحضرت لكم من الموقع
موضوع باللغة الانجليزية يشرح كيفية عمل العلاج
كيف يدخل على العضلة و يمهد امام الغذاء
يعني العطب في مكان معياً و يصلح العطب بحيث
يتمكن الغذا من مواصلة طريقة لجميع عضلات الجسم
و تعدد انواع المرض هو نتيجة مكان وجود العطب
كل مكان له تأثير مختلف عن اماكن اخرى
مثلاً في انواع شديدة تصل إلى
عضلة النتفس
و في انواع مثل مرضي فقط الاطراف
هو هذا يعتمد على مكان وجود العطب
و أخيراً إليكم شرح كيفية عمل الدواء
مع صورة و فيديو
Ataluren (formerly PTC124™) is the first investigational new drug designed to enable the formation of a functioning protein in patients with genetic disorders due a nonsense mutation.
A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. Ataluren is currently being investigated for use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) and nonsense mutation cystic fibrosis (nmCF).
Click here to read Frequently Asked Questions about ataluren.
Figure 1. Translation of an mRNA into protein: comparison of normal translation, premature termination of translation, and treatment with ataluren inducing synthesis of functioning protein.
Mechanism of Action
In healthy individuals, ribosomes translate the informational code in the mRNA into protein until arriving at a normal stop signal in the mRNA, at which point the ribosome appropriately stops translation and a functioning protein results.
Nonsense mutations, however, create a premature stop signal in the mRNA. This premature stop signal causes the ribosome to halt translation before a functioning protein is generated, creating a shortened, nonfunctioning protein. The resulting disease is determined by which protein cannot be expressed in its entirety and is no longer functional (eg, the dystrophin protein in nmDMD or the CFTR protein in nmCF).
Ataluren is designed to allow the ribosome to ignore the premature stop signal and continue translation of the mRNA, resulting in formation of a functioning protein. Ataluren does not cause the ribosomes to read through the normal stop signal.
Ataluren, taken orally, has the potential to address the underlying cause of the disease by overriding the premature stop signal, enabling the synthesis of a functioning protein. Ataluren does not alter the patient’s genetic code or introduce genetic materials into the body.
Click on the video below to listen to Dr. Langdon Miller, Chief Medical Officer of PTC Therapeutics explain how ataluren (PTC124) works.
http://www.youtube.com/watch?v=7tRN5kC8-_8
Nonsense Mutation Genetic Disorders
The National Institutes of Health (NIH) Office of Rare Diseases estimated that rare diseases affect 25 million people in the US and that the majority of these people have genetic disorders. In more than 2,400 genetic disorders, a nonsense mutation causes the disease in an average of 5 to 15% of the patients. Besides nonsense mutation Duchenne muscular dystrophy (nmDMD) and nonsense mutation cystic fibrosis (nmCF), these genetic disorders include a range of serious diseases across multiple therapeutic areas including, spinal muscular atrophy, hemophilia, lysosomal storage disorders, and some forms of cancer.
Genetic Testing
Ataluren has the potential to treat any genetic disorder caused by a nonsense mutation. Although current clinical trials involve only nonsense mutation DMD and nonsense mutation CF, future trial are anticipated in other genetic disorders caused by a nonsense mutation. To determine whether a genetic disorder is caused by a nonsense mutation, patients require genetic testing. Genetic testing is done by a simple blood test that is ordered by a physician working in concert with a genetic lab.
Ataluren has the potential to treat any genetic disorder caused by a nonsense mutation. Although current clinical trials involve only nonsense mutation DMD and nonsense mutation CF, future trial are anticipated in other genetic disorders caused by a nonsense mutation. To determine whether a genetic disorder is caused by a nonsense mutation, patients require genetic testing. Genetic testing is done by a simple blood test that is ordered by a physician working in concert with a genetic lab.
Laboratories performing genetic testing vary by disorder and location. The NIH-funded website, www.genetest.org provides a listing of laboratories and contact information.
Ongoing Clinical Trials
Ongoing Clinical Trials
Ataluren has demonstrated proof of concept in Phase 2a clinical trials in nonsense mutation DMD (nmDMD) and nonsense mutation CF (nmCF). PTC has initiated registration-directed clinical studies to understand whether ataluren can improve how patients with nmDMD and nmCF feel and function and to determine if the drug can be given safely over a long period.
nmDMD: PTC has fully enrolled a Phase 2b clinical study of ataluren in nmDMD/BMD. The trial is a multi-center, randomized, double-blind, placebo-controlled study to determine whether ataluren can improve walking activity, muscle function, and muscle strength. It is being conducted at 37 centers around the world with approximately 165 patients. More information is available at www.clincialtrials.gov (search on "PTC124")
nmDMD: PTC has fully enrolled a Phase 2b clinical study of ataluren in nmDMD/BMD. The trial is a multi-center, randomized, double-blind, placebo-controlled study to determine whether ataluren can improve walking activity, muscle function, and muscle strength. It is being conducted at 37 centers around the world with approximately 165 patients. More information is available at www.clincialtrials.gov (search on "PTC124")
nmCF: PTC is planning to initiate a longer-term, clinical study of nmCF in 2009. The trial will be a multi-center, randomized, double-blind, placebo-controlled study.
Completed Clinical Trials
Phase 2a Data nonsense mutation DMD (nmDMD): Data from Phase 2a clinical trials of ataluren in pediatric patients with nmDMD show that administration of ataluren is associated with production of functional dystrophin. Ataluren treatment has also been associated with statistically significant reductions in the leakage of muscle-derived creatine kinase into the blood.
Phase 2a Data nonsense mutation CF(nmCF): Data from Phase 2a clinical trials of ataluren in pediatric and adult patients with nmCF show that administration of ataluren results in production of functional CFTR and statistically significant improvements in CFTR chloride channel function in the airways. Ataluren treatment was associated with reductions in cough frequency and improvements in pulmonary function tests.
Adverse Events and Safety Profile: Across all clinical studies to date, including Phase 1 healthy-volunteer studies, ataluren has been generally well tolerated. In Phase 2a studies, adverse events have been largely consistent with background symptoms and have usually been mild. No concerning adverse findings have been identified based on physical examinations, vital sign measurements, ECGs, or laboratory studies. Consistent with this safety profile, mean compliance has been >90% in all studies.
Grants
The development of ataluren has also been supported by grants from:
Cystic Fibrosis Foundation
Muscular Dystrophy Association
Parent Project Muscular Dystrophy
FDA’s Office of Orphan Products Development
National Center for Research Resources
The FDA has granted PTC124 (ataluren) 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 (ataluren) has also been granted orphan drug status for the treatment of CF and DMD by the European Commission.
Cystic Fibrosis Foundation
Muscular Dystrophy Association
Parent Project Muscular Dystrophy
FDA’s Office of Orphan Products Development
National Center for Research Resources
The FDA has granted PTC124 (ataluren) 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 (ataluren) has also been granted orphan drug status for the treatment of CF and DMD by the European Commission.
Partnership with Genzyme
PTC Therapeutics, Inc. and Genzyme Corporation have an exclusive collaboration to develop and commercialize ataluren. PTC will commercialize ataluren in the United States and Canada and Genzyme will commercialize ataluren in all other countries.
To receive status updates on ataluren, please visit the Contact Us page of the website and join our mailing list.
Patients, families and advocacy groups may also contact Ms. Diane Goetz, Director, Patient and Professional Relations, 908-912-9256 or
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