Important Information about MYOZYME® (alglucosidase alfa) MYOZYME (alglucosidase alfa) is indicated for use in patients with Pompe disease (GAA deficiency). MYOZYME has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of MYOZYME in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy. WARNING Risk of Anaphylaxis Life-threatening anaphylactic reactions have been observed in some patients during MYOZYME infusions. Therefore, appropriate medical support should be readily available when MYOZYME is administered. Risk of Cardiorespiratory Failure Patients with compromised cardiac or respiratory function may be at risk of serious acute exacerbation of their cardiac or respiratory compromise due to infusion reactions, and require additional monitoring. Risk of Anaphylaxis and Allergic Reactions:  Life-threatening and severe allergic reactions have included anaphylactic shock, cardiac arrest, respiratory distress, hypotension, bradycardia, hypoxia, bronchospasm, throat tightness, dyspnea, angioedema, and urticaria. In clinical trials and postmarketing safety experience with MYOZYME, approximately 1% of patients developed anaphylactic shock and/or cardiac arrest during MYOZYME infusion that required life-support measures.  In clinical trials and expanded access programs with MYOZYME, approximately 14% of patients treated with MYOZYME have developed allergic reactions that involved at least 2 of 3 body systems, cutaneous, respiratory, or cardiovascular systems. (Please see WARNINGS section of the Full Prescribing Information.) Risk of Acute Cardiorespiratory Failure:  Acute cardiorespiratory failure requiring intubation and inotropic support has been observed up to 72 hours after infusion with MYOZYME in infantile-onset Pompe disease patients with underlying cardiac hypertrophy, possibly associated with fluid overload with intravenous administration of MYOZYME.  (Please see Full Prescribing Information for appropriate infusion volumes.) Risk of Cardiac Arrhythmia and Sudden Cardiac Death During General Anesthesia for Central Venous Catheter Placement:  Caution should be used when administering general anesthesia for the placement of a central venous catheter in infantile-onset Pompe disease patients with cardiac hypertrophy.    Infusion Reactions:  The most common adverse reactions requiring intervention were infusion-related reactions which occurred in 20 of 39 (51%) of patients treated with MYOZYME in clinical studies. Some reactions were severe.  Severe infusion reactions reported in more than 1 patient in clinical studies and the expanded access program included: fever, decreased oxygen saturation, tachycardia, cyanosis, and hypotension.  Other infusion reactions reported in more than one patient in clinical studies and the expanded access program included: rash, flushing, urticaria, fever, cough, tachycardia, decreased oxygen saturation, vomiting, tachypnea, agitation, increased blood pressure/hypertension, cyanosis,  irritability, pallor, pruritus, retching, rigors, tremor, hypotension, bronchospasm, erythema, face edema, feeling hot, headache, hyperhidrosis, increased lacrimation, livedo reticularis, nausea, periorbital edema, restlessness, and wheezing. Some patients were pre-treated with antihistamines, antipyretics and/or steroids.  Infusion reactions occurred in some patients after receiving antipyretics, antihistamines, or steroids. Infusion reactions may occur at any time during, or up to 2 hours after, the infusion of MYOZYME, and are more likely with higher infusion rates. In addition to the infusion reactions reported in clinical trials and expanded access programs, the following have been reported during postmarketing use of MYOZYME: cardiac arrest, pharyngeal edema, peripheral edema, chest pain, chest discomfort, muscle spasm, fatigue and conjunctivitis. Patients with advanced Pompe disease may have compromised cardiac and respiratory function, which may predispose them to a higher risk of severe complications from infusion reactions.  Therefore, these patients should be monitored more closely during administration of MYOZYME.   Patients with an acute underlying illness at the time of MYOZYME infusion appear to be at greater risk for infusion reactions.  Careful consideration should be given to the patient’s clinical status prior to administration of MYOZYME. Immune Mediated Reactions:  Severe cutaneous and systemic immune mediated reactions have been reported in postmarketing experience with MYOZYME in at least 2 patients.  Patients should be monitored for the development of systemic immune complex-mediated reactions involving skin and other organs while receiving MYOZYME. Immunogenicity:  The majority of patients in clinical trials developed antibodies to treatment with MYOZYME.  The effect of antibody development on the long term efficacy of MYOZYME is not fully understood.  There is an observation that some patients, who develop high and sustained anti-alglucosidase alfa antibody titers, including those who possess 2 null mutations, have a poorer clinical response. MYOZYME is available by prescription only. Adverse reactions should be reported promptly to Genzyme Medical Information at 800-745-4447, option 2. To learn more, please see the Full Prescribing Information or contact Genzyme Medical Information at 1-800-745-4447, option 2. ALGLUCOSIDASE ALFA(Myozyme)完整的处方:http://www.myozyme.com/PDF/mz_pi.pdf 据预计，全球约有1万名庞培氏症患者。FDA已批准Genzyme公司Myozyme的上市申请。Myozyme用于治疗庞培氏症，这是第一种获准治疗遗传性肌肉疾病的药物。 FDA已批准Myozyme (alglucosidase alfa)的上市申请。Myozyme用于治疗庞培氏症，这是第一种获准治疗遗传性肌肉疾病的药物。据预计，全球约有1万名庞培氏症患者。   庞培氏症患者有多种临床症状。最典型的症状为肌无力和呼吸困难（所有的患者都会出现这类症状），但病情的轻重取决于患者的发病年龄以及受影响器官的范围。若患儿在出生后几个月即发病，则心脏受影响的面积较大，且通常在满周岁之前死亡。 --------------------------------------------------------------- 原产地英文商品名: MYOZYME 50MG VIAL 原产地英文药品名: ALGLUCOSIDASE ALFA 中文参考商品译名: MYOZYME 50毫克瓶 生产厂家中文参考译名: Genzyme公司 生产厂家英文名: Genzyme --------------------------------------------------------------- Myozyme（alglucosidase alfa，α-葡萄糖苷酶） 另外一个新药信息 Lumizyme新药收到FDA回函 Genzyme宣布，收到美国FDA的完整回函，有关Lumizyme新药上市申请，治疗Pompe病，这是一种因酸性α葡萄糖苷酶缺乏，造成多种组织糖元溶酶体储积罕见退行性疾病。 Important Information about MYOZYME® (alglucosidase alfa) MYOZYME (alglucosidase alfa) is indicated for use in patients with Pompe disease (GAA deficiency). MYOZYME has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of MYOZYME in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy. WARNING Risk of Anaphylaxis Life-threatening anaphylactic reactions have been observed in some patients during MYOZYME infusions. Therefore, appropriate medical support should be readily available when MYOZYME is administered. Risk of Cardiorespiratory Failure Patients with compromised cardiac or respiratory function may be at risk of serious acute exacerbation of their cardiac or respiratory compromise due to infusion reactions, and require additional monitoring. Risk of Anaphylaxis and Allergic Reactions:  Life-threatening and severe allergic reactions have included anaphylactic shock, cardiac arrest, respiratory distress, hypotension, bradycardia, hypoxia, bronchospasm, throat tightness, dyspnea, angioedema, and urticaria. In clinical trials and postmarketing safety experience with MYOZYME, approximately 1% of patients developed anaphylactic shock and/or cardiac arrest during MYOZYME infusion that required life-support measures.  In clinical trials and expanded access programs with MYOZYME, approximately 14% of patients treated with MYOZYME have developed allergic reactions that involved at least 2 of 3 body systems, cutaneous, respiratory, or cardiovascular systems. (Please see WARNINGS section of the Full Prescribing Information.) Risk of Acute Cardiorespiratory Failure:  Acute cardiorespiratory failure requiring intubation and inotropic support has been observed up to 72 hours after infusion with MYOZYME in infantile-onset Pompe disease patients with underlying cardiac hypertrophy, possibly associated with fluid overload with intravenous administration of MYOZYME.  (Please see Full Prescribing Information for appropriate infusion volumes.) Risk of Cardiac Arrhythmia and Sudden Cardiac Death During General Anesthesia for Central Venous Catheter Placement:  Caution should be used when administering general anesthesia for the placement of a central venous catheter in infantile-onset Pompe disease patients with cardiac hypertrophy.    Infusion Reactions:  The most common adverse reactions requiring intervention were infusion-related reactions which occurred in 20 of 39 (51%) of patients treated with MYOZYME in clinical studies. Some reactions were severe.  Severe infusion reactions reported in more than 1 patient in clinical studies and the expanded access program included: fever, decreased oxygen saturation, tachycardia, cyanosis, and hypotension.  Other infusion reactions reported in more than one patient in clinical studies and the expanded access program included: rash, flushing, urticaria, fever, cough, tachycardia, decreased oxygen saturation, vomiting, tachypnea, agitation, increased blood pressure/hypertension, cyanosis,  irritability, pallor, pruritus, retching, rigors, tremor, hypotension, bronchospasm, erythema, face edema, feeling hot, headache, hyperhidrosis, increased lacrimation, livedo reticularis, nausea, periorbital edema, restlessness, and wheezing. Some patients were pre-treated with antihistamines, antipyretics and/or steroids.  Infusion reactions occurred in some patients after receiving antipyretics, antihistamines, or steroids. Infusion reactions may occur at any time during, or up to 2 hours after, the infusion of MYOZYME, and are more likely with higher infusion rates. In addition to the infusion reactions reported in clinical trials and expanded access programs, the following have been reported during postmarketing use of MYOZYME: cardiac arrest, pharyngeal edema, peripheral edema, chest pain, chest discomfort, muscle spasm, fatigue and conjunctivitis. Patients with advanced Pompe disease may have compromised cardiac and respiratory function, which may predispose them to a higher risk of severe complications from infusion reactions.  Therefore, these patients should be monitored more closely during administration of MYOZYME.   Patients with an acute underlying illness at the time of MYOZYME infusion appear to be at greater risk for infusion reactions.  Careful consideration should be given to the patient’s clinical status prior to administration of MYOZYME. Immune Mediated Reactions:  Severe cutaneous and systemic immune mediated reactions have been reported in postmarketing experience with MYOZYME in at least 2 patients.  Patients should be monitored for the development of systemic immune complex-mediated reactions involving skin and other organs while receiving MYOZYME. Immunogenicity:  The majority of patients in clinical trials developed antibodies to treatment with MYOZYME.  The effect of antibody development on the long term efficacy of MYOZYME is not fully understood.  There is an observation that some patients, who develop high and sustained anti-alglucosidase alfa antibody titers, including those who possess 2 null mutations, have a poorer clinical response. MYOZYME is available by prescription only. Adverse reactions should be reported promptly to Genzyme Medical Information at 800-745-4447, option 2. To learn more, please see the Full Prescribing Information or contact Genzyme Medical Information at 1-800-745-4447, option 2. 美国FDA批准庞培氏病（Pompe）的首个药物 Myozyme （美国FDA发布；2006年4月28日）  FDA当天批准了Myozyme（通用名：alglucosidase alfa, rhGAA）的生物制品许可申请(biologics license application，BLA)，Myozyme是首个治疗庞培氏病（Pompe）的药物。庞培氏病是一种罕见但严重的衰竭性疾病（debilitating disease），急剧降低了人的肌肉及呼吸功能，该病在每4万到30万人中影响1人。Myozyme已被批准为FDA指定罕见病药，并被批准优先审查。罕见病产品的开发，用于治疗在美国影响少于20万人的罕见疾病或症状，《罕见病药品法》（Orphan Drug Act）给获得一个指定罕见病药上市批准的首个申请者提供了7年的市场独占期。  “该批准是罕见病药计划益处的又一个例子，激励了用于治疗在美国影响少于20万患者的疾病的药物开发，”FDA的药物评价与研究中心主任Steven Galson博士称，“直到现在，庞培氏病尚无已获批准的药物。”  庞培氏病是一种酸性α-葡萄糖苷酶（enzyme acid alpha-glucosidase）缺乏或缺失引起的遗传疾病，这种酶是正常的肌肉生长及肌肉功能所必需的。该病通常导致呼吸衰竭死亡，在新生婴儿中迅速致命。  FDA批准Myozyme通过静脉输液给药。在两项独立临床试验中，对39位1个月至3.5岁的患有庞培氏病的婴幼儿的首次给药评估了Myozyme的安全性及有效性。  使用该药治疗的婴幼儿患者与未使用该药的同龄同病况患者的已知高致命性相比，无需侵入型吸氧（invasive ventilatory）维持生命的存活率比预计的明显增高。该药在其他形式庞培氏病中的安全性和有效性，尚未得到充分研究。  对Myozyme最严重的不良反应报道是心脏与肺衰竭及过敏性休克。最常见的反应包括肺炎、呼吸衰竭与呼吸困难、感染及发烧。Myozyme标签中包含的一个加框警告称可能存在威胁生命的过敏反应。  Myozyme由美国马塞诸塞州剑桥市的Genzyme公司生产 心肌糖原沉积病[庞培氏(Pompe)病] 心肌糖厚沉积病由Pompe(1932)提出，为糖原合成和分解代谢中所需一系列酶的缺陷所致病变，是一种先天性代谢病，本病罕见，是引起婴儿心脏迅速增大的疾病之一，亦即所谓特发性心脏肥大。 [病因] 为糖原分解酶(如a-1，4-葡萄糖苷酶)的缺陷，不能分解为葡萄糖而造成糖原质和量的代谢障碍，使组织中的糖原累积，因此近年把这类疾患总称为糖原沉积病，由于受累的组织或器官不同，可区别为+或+ -型，绝大多数与常染色体隐性遗传有关。实际上可分为肝，心，肌肉三大类，如1型称为肝糖原沉积病（GSDI 亦称VonGierke病），2型为心肌糖原沉积病（GSDI，pampe病等）。3型即肌性糖原沉积病。 [病理] 由于组织中糖原积累，造成器官的肿大与功能不全，如心脏明显增大，主要是心室壁增厚，左室可厚达30毫米（正常为7~10毫米）糖原代谢了肌纤维，并有空泡形成，退行性坏死，但无炎症改变，同时可累及肝，肾和有纹肌等。 [临床情况] 1.病人出生后数周或数月发病，男女相等，病情发展快，常早年死于心力衰竭或呼吸道感染，但也有见于成人者。 2.心脏明显增大但一般无杂音，肌肉软弱无力，巨舌，面容与呆小症或伸舌痴愚相似，肝脾肿大常不明显。 3.胃纳差，呕吐，呼吸困难，紫绀，水肿以及营养不良，发育迟缓等表现。 4.心电图左心肥厚，T波倒置，S~T段下降，血液检查末梢白细胞的酸性麦芽糖酶（葡萄糖苷酶）的活性显著降低。 [X线表现] 心脏呈对称性的原形或球形明显扩大，主要是心室，不侵犯心房，搏动减弱，并可压迫左上支气管，引起左上叶肺不张，晚期有时合并肺郁血或肺炎的表现。 2，心血管造影，显示左心室壁增厚，血液循环正常，有时左肺动脉压升高。 [鉴别诊断] 应与心内膜弹力纤维增生症鉴别，二者X线表现大致相同，又可并存。其它如支气管肺炎伴心力衰竭，先天性心血管畸形，心肌炎等相区别。 参考资料：特殊病征临床X线诊断学