| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
All-Japan clinical trial on the World’s first Japanese-origin treatment drug for mitochondrial diseases MA-5 |
| Name of principal investigator |
Takaaki Abe |
| Name of institution of the principal investigator |
Graduate School of Biomedical Engineering, Tohoku University |
| Target disease |
Mitochondrial diseases |
| Registry name |
Mitochondrial disease registry at Tohoku University and cooperating institutions |
| 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 study is to extract the skin of the patients with mitochondrial dysfunction, culture fibroblasts and consider the cytoprotective effect of drugs at Tohoku University and cooperating institutions. Lactic acids and TCA cycle-related substances are deposited in blood of patients with mitochondrial diseases which are used as the diagnostic criteria. Therefore, the objective of this study is to develop new treatment drugs by measurement of blood concentration of metabolites from blood and urine obtained from the patients, comprehensive metabolome analysis of low molecular weight compounds in fibroblasts, and consideration of stress response and reactivity of the compounds.
|
| Research item |
Name, Sex, Date of birth, Address, Contact (TEL, FAX, e-mail address, etc.), Information about the current medical institutions of patients, Family history, Past medical history, Complication, History of present illness, History of treatment, Laboratory data
|
| Contact |
|
| E-mail address |
|
| Registry URL |
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* If the E-mail address is shown, replace "●" with "@", please.
