| Item | Content |
|---|---|
| Research project name | Research Project on the Rare / Intractable Disease |
| Study title | Construction of the registration system, national survay and establishment of early diagnostic method of inherited GPI deficiency |
| Name of principal investigator | Yoshiko Murakami |
| Name of institution of the principal investigator | Research Institute for Microbial Diseases, Osaka University |
| Target disease | Inherited glucosylphosphatidylinositol (GPI) deficiency |
| Registry name | Registration form of patients with inherited GPI-anchor deficiency (IGD) |
| 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, Sample collection, Investigation of biomarkers |
| Overview of registry | Online entry of present status, clinical information, test findings including images and the details of treatment for diagnosed patients. |
| Research item | Sex, Date of birth, Family history, Past medical history, Complication, History of present illness, History of treatment, Laboratory data, Degree of severity, Clinical course, ADL, QOL, Functional prognosis, Prognosis, Cause of death |
| Contact | Shin Nabatame |
| E-mail address | nabatames●ped.med.osaka-u.ac.jp |
| Registry URL | http://igd.biken.osaka-u.ac.jp |
* If the E-mail address is shown, replace "●" with "@", please.