| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
Study on development of the diagnostic system with next-generation sequencer for rare inherited pediatric blood disorders |
| Name of principal investigator |
Seiji Kojima |
| Name of institution of the principal investigator |
Nagoya University Graduate School of Medicine |
| Target disease |
Rare inherited pediatric blood disorders |
| Registry name |
Rare inherited pediatric blood disorder registry |
| Purpose of registry |
Survey of natural history, Investigation into the number or the distribution of patients, Epidemiological study, Patient recruitment for clinical trials or other interventional studies, Application as a control group in clinical trials, Application for post-marketing surveillance, Sample collection, Investigation of biomarkers, Genetic analysis study, Provision of information to physicians in charge
|
| Overview of registry |
The objective of this study is establishment of the central diagnostic system based on comprehensive genetic analysis for rare inherited pediatric blood disorders. The patient registry to collect natural history, investigation of biomarkers, and clinical information has been established in addition to the genetic analysis results for cases underwent genetic analysis with this diagnostic system.
|
| Research item |
Sex, Information about the current medical institutions of patients, Family history, Past medical history, Complication, History of present illness, History of treatment, Laboratory data, Degree of severity, Clinical course, Prognosis, Cause of death
|
| Contact |
Seiji Kojima |
| E-mail address |
kojimas●med.nagoya-u.ac.jp |
| Registry URL |
|
* If the E-mail address is shown, replace "●" with "@", please.
