CTRI/2024/03/063469招募中Unknown
Delineating the genomic basis of neurodegeneration and mitochondrial disorders associated with defective DNA break repair - NI
Sanjiban Chakrabarty0 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
- •1. Individuals with clinical features, radiological findings, and biochemical analysis suggestive of a mitochondrial disorder using Mitochondrial Disease Criteria(Score more than 5).
- •2. Clinical presentation – Motor developmental delay, myopathy, dystonia, ataxia, seizures, exercise intolerance, spasticity, growth failure, hearing and vision impairment, cardiomyopathy, gastrointestinal issues.
排除标准
- •1. Individuals having a score of less than 5 utilizing mitochondrial disease criteria(MDC) regardless of age of onset or presentation.
- •2. Participate with non-genetic disorders, such as autoimmune or inflammatory infections, endocrine or hypoxic insults in the neonatal period, medications, or toxins exposure
研究者
相似试验
招募中
Unknown
eurodegeneration disorderCTRI/2023/07/054772Strand Life Sciences Private Limited
招募中
不适用
Elucidation of pathomechanisms of neurodegenerative diseases by 7 Tesla MRIParkinson's disease Alzheimer's disease Tauopathy Spinocerebellar degeneration REM sleep behavior disorderJPRN-UMIN000035234Kyoto University190
招募中
不适用
Investigating Genetic Status in Patients Presenting to ClinicDementia, FrontotemporalAlzheimer Dementia (AD)Lewy Body Dementia (LBD)NCT05911932London Health Sciences Centre Research Institute and Lawson Research Institute of St. Joseph's1,000
招募中
不适用
Implementation of Molecular Diagnostic PathwaysGenetic DiseaseNCT03084224Neuromed IRCCS1
已完成
不适用
The relation between neurodegeneration and other pathology in multiple sclerosis: an in vivo MRI studyMS1000381610012303multiple sclerosisNL-OMON36150Vrije Universiteit Medisch Centrum85