EFFICACY OF A THERAPEUTIC TREATMENT TRIAL IN ANGELMAN SYNDROME

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 Angelman综合征（AS）是一种神经系统疾病，可引起全身发育迟缓、语言障碍、癫痫发作、步态不协调（共济失调）、睡眠障碍以及其他医疗和行为困难。AS是由缺乏障碍，以及其他医疗和行为困难引起的。 AS是由编码定位于染色体15 q11-q13的E6-AP泛素蛋白连接酶（基因符号UBE 3A）的母系遗传基因缺陷引起的。 本研究旨在评估L-5-甲基四氢叶酸（Metafolin）、维生素B12、肌酸和甜菜碱对Angelman综合征（AS）儿童的可能治疗益处。 我们认为，饮食干预可能会增加整体DNA甲基化，从而导致父亲染色体的甲基化增加，并使用这些饮食干预进一步表达Angelman基因，从而改善这种疾病的症状和医疗问题。 研究的所有参与者将包括具有AS分子诊断记录的患者。 参与者将在0个月、6个月和12个月时在贝勒医学院、圣地亚哥儿童医院、波士顿儿童医院和格林伍德遗传学中心接受随访。 将在临床访视和检查期间以及通过审查医疗和实验室记录收集临床和相关历史数据。 入组的受试者将接受联合用药，并在试验开始和结束时（12个月）接受亲自评估。 然后，这些信息将被输入符合HIPAA的临床研究数据库。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Angelman syndrome (AS) is a neurologica disorder that causes global developmental delay, minimal or absent speech, seizures, uncoodinated gait (ataxia), sleep disturbances, and other medical and behavioral difficulties. AS is caused by deficiency of disturbances, and other medical and behavioral difficulties. AS is caused by deficiency of the maternally-transmitted gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A)mapping to chromosome 15q11-q13. This study has been designed to evaluate the possible therapeutic benefits of L-5-methyltetrahdydrofolate (Metafolin) vitamin B12, creatine and betaine in children with Angelman Syndrome (AS). We believe that dietary manipulation may increase global DNA methylation therefore leading to an increased methylation of the paternal chromosome and further expression of the Angelman gene using these dietary interventions causing an amelioration of the symptoms and medical problems in this disorder. All the participants for the study will include patients who have a documented molecular diagnosis of AS. The participants will be seen at Baylor College of Medicine, Children's Hospital of San Diego, Boston Children&'s Hospital and the Greenwood Genetics Center at 0 months, 6 months and at 12 months for follow-up. Clinical and relevant historical data will be collected during the clinical visit and examination and also by revieiwing medical and laboratory records. The enrolled subjects will be given the combination of drugs and evaluated in person at the beginning of the trial and at the end (12 months). This information will then be entered into a HIPAA compliant clinical research database.