| Item | Content |
|---|---|
| Research project name | Practical Research Project for Rare / Intractable Diseases |
| Study title | Development of gene therapies for pediatric neurological disorder and congenital metabolic disorders including AADC deficiency |
| Name of principal investigator | Takanori Yamagata |
| Name of institution of the principal investigator | Department of Pediatrics, Jichi Medical University |
| Target disease | AADC deficiency |
| Registry name | Registry of patients with AADC deficiency |
| Purpose of registry | Survey of natural history, Investigation into the number or the distribution of patients, Patient recruitment for clinical trials or other interventional studies, Investigation of biomarkers, Genetic analysis study, Provision of information to registered patients, Provision of information to physicians in charge |
| Overview of registry | This registry registers patients and selects patients eligible for clinical studies and subsequent clinical trials. |
| Research item | Name, Sex, Date of birth, Address, Contact (TEL, FAX, e-mail address, etc.), Information about the current medical institutions of patients, Place of birth, Situation of public financial support, Situation of specific disease medical support, 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 | Karin Kojima |
| E-mail address | aadc-2016●jichi.ac.jp |
| Registry URL | http://www.jichi.ac.jp/usr/pedi/aadc/index.html |
* If the E-mail address is shown, replace "●" with "@", please.