The natural history of Mucolipidosis type IV. (Schiffmann)

IV 型粘脂沉积症的自然史。

• 批准号: 8381334
• 负责人: RAPHAEL SCHIFFMANN
• 金额: $ 4.6万
• 依托单位: UNIVERSITY OF MINNESOTA
• 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/8381334
• 关键词: Awareness; Brain Diseases; Caring; Cations; Cerebral Palsy; Clinical; Clinical Trials; Code; Detection; Development; Diagnosis; Diagnostic; Disease; Education; Future; Ganglioside Sialidase Deficiency Disease; Genetic; Goals; Lysosomes; Natural History; Neurodegenerative Disorders; Neurologic; Newly Diagnosed; Outcome Measure; Patients; Physicians; Process; Rare Diseases; Recruitment Activity; Research; Research Proposals; Retinal; Retinal Degeneration; Retinal Diseases; Retinal Dystrophy; Time; base; cohort; disease-causing mutation; experience; improved; patient population

Mucolipidosis type IV (MLIV) is a rare autosomal recessive neurodegenerative disease caused by mutations of MCOLN1, which codes of mucolipin-1 a putative cation channel located in lysosomes. This research proposal aims to study the natural history of neurological and retinal manifestations of MLIV It also aims to increase awareness and improve diagnosis of MLIV among patients with cerebral palsy and those with retinal dystrophy of unknown cause. Over the past decade we have been studying prospectively various clinical and genetic aspects of MLIV in the only study of its kind. We hypothesize that MLIV is a combination of mostly developmental abnormality in the CMS and a degenerative retinal process. In this application we propose to 1) recruit known and newly diagnosed patients with MLIV and systematically study the neurological and retinal function over time. 2) Contact practicing physicians that take care of cerebral palsy patients and those with retinal dystrophy to increased awareness and improve diagnosis of MLIV. Based on our experience, we believe that many MLIV patients go undiagnosed. This project will help characterize and quantify the clinical abnormalities of MLIV and thus help define a patient population and outcome measures for future clinical trials.

IV 型粘脂沉积症 (MLIV) 是一种罕见的常染色体隐性遗传神经退行性疾病，由 MCOLN1 突变引起，MCOLN1 编码位于溶酶体中的假定阳离子通道 mucolipin-1。本研究计划旨在研究 MLIV 的神经和视网膜表现的自然史，还旨在提高脑瘫和不明原因视网膜营养不良患者对 MLIV 的认识并改善其诊断。在过去的十年中，我们一直在前瞻性地研究 MLIV 的各种临床和遗传方面，这是唯一的此类研究。我们假设 MLIV 是 CMS 发育异常和视网膜退行性过程的结合。在此应用中，我们建议 1) 招募已知和新诊断的 MLIV 患者，并随着时间的推移系统地研究神经和视网膜功能。 2) 联系照顾脑瘫患者和视网膜营养不良患者的执业医师，以提高对 MLIV 的认识并改进诊断。根据我们的经验，我们相信许多 MLIV 患者未能得到诊断。该项目将有助于描述和 量化 MLIV 的临床异常，从而帮助确定未来临床试验的患者群体和结果指标。