| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
Study on development of clinical basis for promotion of treatment for fragile X syndrome and fragile X-associated tremor ataxia syndrome |
| Name of principal investigator |
Kaori Adachi |
| Name of institution of the principal investigator |
Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University |
| Target disease |
Fragile X syndrome and related diseases |
| Registry name |
Fragile X syndrome and related disease 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, Sample collection, Investigation of biomarkers, Genetic analysis study, Provision of information to registered patients, Provision of information to physicians in charge
|
| Overview of registry |
- Collection of epidemiological information on fragile X syndrome and related diseases (number of patients, clinical information, genetic analysis information)
- Recruitment of subjects to clinical trials on fragile X syndrome and related diseases
- Investigation of biomarkers involved in fragile X syndrome and related diseases
- Basis of information dissemination to registered patients and physicians in charge |
| Research item |
Information about the current medical institutions of patients, Family history, Complication, History of present illness, History of treatment, Laboratory data, Others (physical findings, development history)
|
| Contact |
Kaori Adachi |
| E-mail address |
adachika●med.tottori-u.ac.jp |
| Registry URL |
|
* If the E-mail address is shown, replace "●" with "@", please.
