TREATMENT OF 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: 6308958
• 负责人: ELLEN ELIAS
• 金额: $ 2.88万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2000-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6308958
• 关键词: child (0-11); child behavior; child physical development; cholesterol; clinical research; clinical trial phase I; human subject; human therapy evaluation; inborn lipid /lipoprotein disorder; metabolism disorder chemotherapy; neuroendocrine system; nutrition related tag; skin; syndrome; tube feeding

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.

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代谢错误引起的。SLO儿童有多种出生缺陷和复杂的医疗问题，包括严重的生长障碍、智力低下、内分泌、皮肤病、血液病和行为问题。该方案包括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，并降低前体7-脱氢胆固醇的积累。胆固醇是通过肠道给药的(po或pg)。胆固醇缺乏会对多个器官系统产生影响。按方案治疗的患者将接受跟踪，以确定胆固醇治疗是否影响生长、发育、行为、血液学、皮肤病和内分泌状态。