| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
Elucidation of pathological conditions of D4ST1-deficient Ehlers-Danlos syndrome and development of treatment |
| Name of principal investigator |
Tomoki Kosho |
| Name of institution of the principal investigator |
Center for Medical Genetics, Shinshu University Hospital |
| Target disease |
D4ST1-deficient Ehlers-Danlos syndrome (DDEDS) |
| Registry name |
DDEDS registry |
| Purpose of registry |
Survey of natural history, Investigation into the number or the distribution of patients, Epidemiological study, 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 DDEDS (e.g., patient distribution, complications, prognosis, prognostic factors, gene mutations), investigation of biomarkers useful for evaluation of pathology and therapeutic effect with future treatment of DDEDS, and basis of information dissemination for DDEDS
|
| Research item |
Past medical history, Complication, History of present illness, History of treatment, Degree of severity, Clinical course, ADL, QOL, Prognosis, Cause of death
|
| Contact |
Tomoki Kosho |
| E-mail address |
ktomoki●shinshu-u.ac.jp |
| Registry URL |
|
* If the E-mail address is shown, replace "●" with "@", please.
