DRKS00019110招募中不适用
Pathophysiology of L-Dopa responsive Dystonia and other monogenetic disorders - PatDyMonDis
Zentrum für Kinder-und Jugendmedizin Heidelberg Sektion für Neuropädiatrie und Stoffwechselmedizin0 个研究点目标入组 50 人开始时间: 2019年10月29日最近更新:
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 50
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 Days 至 100 Years（—）
- 性别
- All
入选标准
- •Children and adults with confirmed diagnosis of Neurotransmitter disorders
- •o Aromatic amino acid decarboxylase (AADC) deficiency
- •o Tyrosine hydroxylase (TH) deficiency
- •o Dopamine beta-hydroxylase (DßH) deficiency
- •o Monoamine oxidase A (MAOA) deficiency
- •o Dopamine transporter (DAT) deficiency
- •o Vesicular monoamine transporter 2 (VMAT) deficiency
- •Children and adults with confirmed diagnosis of BH4 Deficiencies
- •o Autosomal rezessive GTP cyclohydrolase deficiency
- •o Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease)
- •o 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency
- •o Dihydropteridine reductase (DHPR) deficiency
- •o Sepiapterin reductase (SR) deficiency
- •Children and adults with confirmed diagnosis of cerebral folate deficiencies:
- •o Folate receptor alpha (FOLR1) deficiency
- •o Dihydrofolate reductase (DHFR) deficiency
- •Children and adults with further monogenetic diseases
- •Written informed consent given by the patient, the parents or the legal representatives
排除标准
- 未提供
研究者
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