TREATMENT OF THE CHOLESTEROL DEFECT IN SMITH-LEMLI OPITZ SYNDROME

史密斯-莱姆利·奥皮兹综合征中胆固醇缺陷的治疗

• 批准号: 7380702
• 负责人: MIRA IRONS
• 金额: $ 1.99万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7380702
• 关键词: TREATMENT; CHOLESTEROL; DEFECT; SMITH; LEMLI

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. Children with Smith-Lemli-Opitz (SLO) Syndrome have a severe cholesterol deficiency, caused by an inborn error of metabolism in the cholesterol synthetic pathway. Children with SLO have multiple birth defects and complex medical problems including severe growth failure, mental retardation, endocrine, dermatologic, hematologic, and behavioral problems. This protocol involves giving pure cholesterol in the form of a concentrated suspension, in an effort to raise cholesterol levels, and lower accumulation of the precurson, 7-dehydrocholesterol. The cholesterol is administered enterally (po or pg). Cholesterol deficiency has effects on multiple organ systems. Patients on protocol will be followed to determine if cholesterol treatment effects growth, development, behavior, hematologic, dermatologic and endocrine status.

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。患有Smith-Lemli-Opitz（SLO）综合征的儿童患有严重的胆固醇缺乏症，这是由胆固醇合成途径中的先天性代谢缺陷引起的。患有SLO的儿童有多种出生缺陷和复杂的医学问题，包括严重的生长障碍、智力迟钝、内分泌、皮肤病学、血液学和行为问题。该方案涉及以浓缩悬浮液的形式给予纯胆固醇，以努力提高胆固醇水平，并降低胆固醇，7-脱氢胆固醇的积累。胆固醇经肠给药（po或pg）。胆固醇缺乏会影响多个器官系统。将对方案中的患者进行随访，以确定胆固醇治疗是否影响生长、发育、行为、血液学、皮肤学和内分泌状态。