DRKS00007878招募中不适用
iNTD (International Network on Neurotransmitter related Disorders) Registry - iNTD
niversitätsklinikum Heidelberg0 个研究点目标入组 500 人开始时间: 2015年3月6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
- 500
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
- one 至 one（—）
- 性别
- All
入选标准
- •Children and adults with confirmed diagnosis of Neurotransmitter (biogenic amines) 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
- •o Pterin-4a-carbinolamine dehydratase (PCD) 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 confirmed diagnosis of serine deficiency disorders:
- •o 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency
- •o 3-phosphoserine phosphatase (3-PSP) deficiency
- •o Phosphoserine aminotransferase deficiency
- •Children and adults with confirmed diagnosis of disorders of glycine metabolism:
- •o Glycine encephalopathy (Non-ketotic hyperglycinaemia)
- •Children and adults with confirmed diagnosis of GABA related disorders
- •o GABA-transaminase-deficiency
- •o Succinate-semialdehyde-dehydroxylase deficiency
- •Children and adults with suspicious CSF results (suggesting neurotransmitter related disorder) without known diagnosis
- •Written informed consent given by the patient, the parents or the legal representatives
排除标准
- •Individuals with rare and unrelated serious comorbidities:
- •o Down Syndrome
- •o Intraventricular haemorrhage (°III-IV)
- •o Severe hyperbilirubinemia with Kernikterus,
- •o Embryo fetal alcohol syndrome
- •o Intake of teratogen drugs during pregnancy
研究者
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