NCT06347562Unknown不适用
Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders
IRCCS Eugenio Medea2 个研究点 分布在 1 个国家目标入组 58 人开始时间: 2022年6月15日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 58
- 试验地点
- 2
- 主要终点
- Diagnostic concordance rate
研究概览
简要总结
to evaluate the ability of the Optical genome Mapping (OGM) approach to detect simple and complex constitutional chromosomal aberrations of clinical relevance, which had previously been identified with standard diagnostic approaches (karyotyping, FISH, CNV-microarray) in the context of neurodevelopmental disorders (NDDs) with/wo congenital anomalies (CA)
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis)
排除标准
- 未提供
结局指标
主要结局
Diagnostic concordance rate
时间窗: 30 months
percentage of concordance between optical genome mapping and standard assays (Karyotyping, Chromosomal Microarray Analysis) for all aberrations with clinical significance
次要结局
未报告次要终点
研究者
研究点 (2)
Loading locations...
相似试验
已完成
不适用
Optical genome mapping in addition to cytogenetic characterization based on apparently balanced chromosome translocationsQ99.9Chromosomal abnormality, unspecifiedDRKS00026087niversitätsklinikum FreiburgInstitut für Humangenetik4
已完成
不适用
Impact of Optical Genome Mapping in Acute Myeloblastic LeukemiaAcute Myeloblastic LeukemiaNCT05499611University Hospital, Bordeaux120
招募中
不适用
Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic AbnormalitiesMyeloproliferative NeoplasmOptical Genome MappingCytogeneticsClonalityPrognostic StratificationNCT05714592Centre Hospitalier Universitaire, Amiens300
招募中
不适用
Optical Genome Mapping in Hematological MalignanciesMDSALLOther Hematologic Malignant NeoplasmsNCT05009537University Hospital, Brest200
已完成
不适用
Optical Genome Mapping in Characterization of Multiple MyelomaMultiple MyelomaNCT05786105Institut de cancérologie Strasbourg Europe8