NL-OMON52401招募中不适用
Evaluation of genetic, enzymatic, biochemical and clinical characteristics of OCTN2/CPT2/CACT/BKT deficiency to determine if new born screening is useful and feasible - OCTN2/CPT2/CACT/BKT Deficiency Implementation in Newborn screening: ODI
niversitair Medisch Centrum Utrecht0 个研究点目标入组 380 人开始时间: 待定最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 380
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 0 至 99（—）
入选标准
- •OCTN2 deficiency, confirmed by reduced carnitine transporter activity in
- •cultured fibroblasts and/or mutations in the SLC22A5 gene.
- •Subject referred to academic centre for OCTN2 deficiency because of low
- •carnitine level in NBS.
- •Mother analysed in academic centre for OCTN2 deficiency due to low carnitine
- •level in infant*s NBS.
- •CPT2 deficiency, confirmed by reduced Carnitine palmitoyltransferase II
- •activity in lymphocytes or cultured fibroblasts and/or biallelic mutations in
- •the CPT2 gene.
- •CACT deficiency, confirmed by carnitine acylcarnitine translocase activity in
- •cultured fibroblasts and/or biallelic mutations in the SLC25A20 gene.
- •BKT deficiency, confirmed by reduced 2-methylacetoacetyl-CoA thiolase
- •activity in cultured fibroblasts and/or biallelic mutations in the ACAT1 gene.
排除标准
- •No exclusion criteria. All subjects that meet inclusion criteria are elligible
- •for inclusion
研究者
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