EFFICACY OF A THERAPEUTIC TREATMENT TRIAL IN ANGELMAN SYNDROME

天使综合症治疗试验的疗效

• 批准号: 8166677
• 负责人: Carlos A. Bacino
• 金额: $ 0.11万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-12-01 至 2010-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8166677
• 关键词: Angelman Syndrome; Behavioral; Betaine; Boston; Child; Chromosomes; Clinical; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Creatine; DNA Methylation; Data; Databases; Developmental Delay Disorders; Dietary Intervention; Disease; Drug Combinations; Enrollment; Funding; Gait Ataxia; Genes; Genetic; Grant; Health Insurance Portability and Accountability Act; Institution; Laboratories; Ligase Gene; Maps; Medical; Medicine; Methylation; Molecular Diagnosis; Participant; Patients; Pediatric Hospitals; Persons; Records; Research; Research Personnel; Resources; Seizures; Sleep disturbances; Source; Speech; Symptoms; Therapeutic; Ubiquitin-Protein Ligase Complexes; United States National Institutes of Health; Visit; Vitamin B 12; college; design; follow-up; treatment trial; ubiquitin-protein ligase

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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 Angelman综合征（AS）是一种神经科疾病，会导致全球发育延迟，最小或缺失的言语，癫痫发作，未备受感染的步态（共济失调），睡眠障碍以及其他医学和行为困难。由于干扰以及其他医学和行为困难所致。 这是由编码E6-AP泛素 - 蛋白连接酶（基因符号UBE3A）映射到染色体15q11-Q13染色体的母体转移基因的缺乏。 这项研究旨在评估L-5-甲基四氢叶酸盐（Metafolin），维生素B12，肌酸和Betaine在Angelman综合征（AS）儿童中的可能益处。 我们认为，饮食中的操纵可能会增加全球DNA甲基化，因此，使用这些饮食干预措施增加了父亲染色体的甲基化增加，并进一步表达了Angelman基因的表达，从而改善了这种疾病中症状和医疗问题。 该研究的所有参与者都将包括具有AS分子诊断的患者。 参与者将在贝勒医学院，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时在0个月，6个月和12个月的后续活动中看到。 临床和相关的历史数据将在临床访问和检查期间以及Revieiwing医疗和实验室记录中收集。 在试验开始时（12个月）时，将向注册的受试者组合药物并亲自评估。 然后将将此信息输入到符合HIPAA的临床研究数据库中。