| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
Developmental study on treatment of familial Mediterranean fever (FMF) and abnormal inflammasome signaling with genomic drug discovery |
| Name of principal investigator |
Atsushi Kawakami |
| Name of institution of the principal investigator |
Nagasaki University Graduate School of Biomedical Sciences |
| Target disease |
Familial Mediterranean fever (FMF) (including suspected and atypical cases) |
| Registry name |
Familial Mediterranean Fever (FMF) Biobank |
| 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, Sample collection, Investigation of biomarkers, Genetic analysis study, Provision of information to physicians in charge
|
| Overview of registry |
This registry is a biobank for cases and samples with requested genetic and biomarker analyses and confirmed written informed consent on the study of suspected FMF nationwide. It primarily analyzes MEFV gene, exome, whole genome, serum, plasma, hemocytes, protein and gene expression, couples with the clinical information for diagnosis of FMF and integrated analysis of degree of severity.
|
| Research item |
Name, Sex, Date of birth, 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, ADL, QOL, Functional prognosis, Prognosis, Cause of death
|
| Contact |
Tomohiro Koga |
| E-mail address |
tkoga●nagasaki-u.ac.jp |
| Registry URL |
|
* If the E-mail address is shown, replace "●" with "@", please.
