CTRI/2023/09/057289招募中Unknown
Investigating the pathomechanisms underlying the RNA exosome component EXOSC1 associated neurodegenerative disorder - EXOSC1
Science and Engineering Research Board (SERB)0 个研究点目标入组 0 人开始时间: 待定最近更新:
试验速览
- 阶段
- Unknown
- 状态
- 招募中
- 发起方
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
入选标准
- •Inclusion criteria (primary fibroblast to iPSC generation): subject with neurodegenerative pontocerebellar hypoplasia type 1F and pathogenic variant in EXOSC1 will be recruited into the study.
- •– Inclusion criteria (primary fibroblast studies): subjects with pathogenic variants in RNA exosome component genes, eg. EXOSC5, EXOSC6, EXOSC7, EXOSC8 etc will be included in the study
排除标准
- •– Exclusion criteria (primary fibroblast to iPSC generation): subjects without pathogenic variants in EXOSC1 will be excluded.
- •– Exclusion criteria (primary fibroblast studies): subjects with no pathogenic variants in RNA exosome genes will be excluded
研究者
相似试验
招募中
不适用
Investigation of the underlying pathomechanisms found in defects of the neurotransmitter, Pterine -, phenyl alanine, and 5-Methyltetrahydrofolate metabolism in induced pluripotent stem cells (iPSC) and derivativesDRKS00010150niversitätsklinikum Heidelberg50
招募中
不适用
Elucidation of the pathophysiological mechanism of dementianeurodegenerative diseasesJPRN-jRCTs031180225Ito Daisuke500
招募中
不适用
Elucidation of the pathophysiological mechanism of dementia and clinical research for creation of drug discovery targetsJPRN-UMIN000032027Keio University, School of Medicine500
招募中
Unknown
Elucidation of the Pathophysiological Basis of Reduced Pain Thresholds in Parkinson's Diseasehealthy subjectsParkinson DiseaseD010300JPRN-jRCT1030230084Abe Mitsunari90
招募中
不适用
nderstaning of mechanisms in coping with grief after bereavementProlonged grief disorderJPRN-UMIN000047781ational Center of Neurology and Psychiatry90