The Natural History of Pediatric Onset Cutaneous and Systemic Mastocytosis

儿童发病的皮肤和系统性肥大细胞增多症的自然史

• 批准号: 8336336
• 负责人: melody c carter
• 金额: $ 26.38万
• 依托单位: NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8336336
• 关键词: Adult; Affect; Biological Markers; Birth; Bone marrow biopsy; Child; Childhood; Classification; Cutaneous Mastocytosis; Diffuse Cutaneous Mastocytosis; Disease; Disease Management; Disease Progression; Disease regression; Enrollment; Family member; Goals; Indolent Systemic Mastocytosis; Lead; Mast Cell Neoplasm; Mutation; Natural History; Patients; Prognostic Marker; Protocols documentation; Serum; Systemic Mastocytosis; Tryptase; Urticaria Pigmentosa; Variant; aged; design; improved; mastocytosis; novel

The protocol is designed to evaluate children with cutaneous or systemic mastocytosis. Patients with all variants of pediatric-onset mastocytosis: urticaria pigmentosa, diffuse cutaneous mastocytosis, mastocytoma, and indolent systemic mastocytosis, are being studied. The information we are collecting from subjects enrolled in the protocol provides the much needed information required to identify factors that may be associated with disease that does not resolve. Moreover, in those children with indolent systemic mastocytosis, this protocol will identify prognostic markers for disease progression into adulthood. In our recent studies, we have thus found serum tryptase to reflect extent of disease and to serve as an important biomarker of both disease regression and progression. We have also identified unique bone marrow biopsy findings that may similarly be used to predict disease progression and may lead the way to an improved classification of pediatric onset mastocytosis.

该方案旨在评估儿童皮肤或全身肥大细胞增多症。 儿童期肥大细胞增多症的所有变异型患者：色素性荨麻疹、弥漫性皮肤肥大细胞增多症、肥大细胞瘤和惰性系统性肥大细胞增多症，正在研究中。 我们从入组方案的受试者中收集的信息提供了识别可能与未消退疾病相关的因素所需的急需信息。此外，在那些患有惰性系统性肥大细胞增多症的儿童中，该方案将确定疾病进展至成年的预后标志物。 在我们最近的研究中，我们发现血清类胰蛋白酶可以反映疾病的程度，并作为疾病消退和进展的重要生物标志物。 我们还发现了独特的骨髓活检结果，这些结果同样可以用于预测疾病进展，并可能导致儿童肥大细胞增多症的分类改进。