PKU |Overview
Harvey Levy计划针对苯基酮和相关条件是一项多学科，以患者为中心的计划，针对影响氨基酸代谢的代谢疾病的儿童和成人。这些疾病通常是由有助于分解蛋白质的酶引起的，这可能导致可能有害物质的积累，有时还缺乏正常细胞功能所需的构件。未经治疗状态的症状可能包括发育延迟，智力障碍，心理疾病，肝病和stroke。这些疾病是可以治疗的，大多数人都是通过新生儿筛查诊断的，这可以使人们过着更正常的生活。
这se conditions include:
- 苯酮尿症
- 同囊尿
- 枫糖浆尿液疾病
- 酪氨酸血症
- 相关的辅助障碍
该计划中包括的代谢疾病的治疗历史上已经在波士顿儿童医院提供。欧宝彩票平台可用的疗法现在正在扩展到包括新型和高度影响的疗法，例如酶取代疗法。
项目名称在2019年被授予,命名to honor the contributions of Boston Children’s Hospital’s own metabolic disease and newborn screening pioneer, Dr. Harvey Levy. Through the work of Dr. Levy, Massachusetts was the first state to offer newborn screening for phenylketonuria in 1962, and one of the first to screen for homocystinuria and maple syrup urine disease. Much of his early work helped to understand maternal PKU, leading to improved pregnancy outcomes. In the early days of newborn screening, Dr. Levy had been the director of the Massachusetts Metabolic Disorders Program and later the chief of biochemical genetics in the New England Newborn Screening Program. Dr. Levy served on numerous local, regional, and U.S. national committees and task forces on newborn screening and metabolic disorders. He has been active in many professional societies, notably the Society for Inherited Metabolic Disorders as director-at-large and president. Dr. Levy’s scientific career has focused on the clinical follow-up of inborn errors identified by newborn screening as well as the evaluation of newborn screening methods. In the more recent years Dr. Levy had been involved in the efforts to expand newborn screening by tandem mass spectrometry. Dr. Levy currently directs a clinical research group that is studying the effect of innovative therapies for phenylketonuria and homocystinuria. He has been the (co-)author of over 200 scientific papers.
Why Boston Children’s Hospital?
这代谢计划自1978年以来，在波士顿，儿童一直在照顾所有代谢疾病的患者。我们看到各个年龄段的患者，从新生儿到老年人。我们为这些条件提供综合，个性化的多学科住院和门诊护理，包括进入世界知名专家遗传学，，，，代谢，，，，Nutrition和心理学，并根据需要通过波士顿儿童选择进一步的服务。
我们提供了最新药物的临床试验的访问权限，并且由于我们的试验参与而具有管理新兴疗法的经验。我们的团队与支持小组和患者倡导小组保持着紧密的联系，这些团体为面临类似挑战的家庭提供了其他支持和有用的教育信息。
苯基酮和同囊尿（HCU）的研究
Harvey Levy博士的苯酮尿和相关条件计划正在进行研究，以促进我们对PKU和HCU机制的理解。
正在进行的临床试验：
- Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase
- Nutrition Status of Adults Treated With Pegvaliase
- 成人PKU的基因疗法临床研究（PHENIX）
- PKUDOS：苯酮（PKU）人口统计学，结果和安全注册中心（PKUDOS）
- 胱淀粉β-合酶缺乏症的自然史研究（CBSDH）
- OT-58作为胱淀粉β-合酶缺乏症的患者的酶替代疗法（CBSDH）
Completed clinical trials:
- A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults (165-901)
- 在健康的成人志愿者和苯酮尿尿症（PKU）中，合成1618的安全性和耐受性（PKU）
- Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU (Prism302)
- A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks
- MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria
- 这Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria
- 2阶段的糖叠肽与氨基酸饮食的研究用于治疗苯酮尿症（PKU）
- 苯酮尿症的成年人的大脑，神经功能和神经心理功能：一项试验研究
- A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults (165-901)
- Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU (PKU-015)
- 二羟苯甲酸盐对苯基酮（PKU）患者神经精神症状的安全性和治疗作用