A5071659779- Peroxisome Proliferator-Activated Receptors
- Metabolism and Genetic Disorders
- CRISPR and Genetic Engineering
- Biomedical Ethics and Regulation
- RNA Interference and Gene Delivery
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Alcohol Consumption and Health Effects
- Science, Research, and Medicine
- Endometrial and Cervical Cancer Treatments
- Ovarian cancer diagnosis and treatment
- Biochemical and Molecular Research
- Epilepsy research and treatment
- Glioma Diagnosis and Treatment
- Neurological and metabolic disorders
- Uterine Myomas and Treatments
- Ion Transport and Channel Regulation
- Skin and Cellular Biology Research
Hokkaido University Hospital
2018-2024
Hokkaido University
2024
Hokkaido University of Science
2023
Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on vitro FAO capacity has been reported, vivo remains controversial. Therefore, we conducted clinical trial bezafibrate Japanese patients with FAODs.This was an open-label, non-randomized, and multicenter study treatment 6 very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency 2 carnitine...
Fatty acid oxidation disorders (FAODs) are rare diseases caused by a defective mitochondrial fatty (FAO) enzyme. We recently reported that bezafibrate improved patient quality of life (QOL) based on the SF-36 questionnaire score in patients with FAODs during 50-week, open-label, clinical trial. Herein we conducted further survey assessments trial to define long-term efficacy and safety bezafibrate. This was an non-randomized, multicenter study treatment five very long-chain acyl-CoA...
The efficacy of the mechanistic target rapamycin inhibitor, sirolimus, was recently reported for patients more than 6 years age by Kato et al. We evaluated and safety sirolimus in a 2-year-old patient with recurrent focal seizures impaired consciousness after cortical dysplasia (FCD) type IIa resection.The girl who had undergoing FCD resection at 4 months age. initial dose 0.5 mg/day gradually increased using trough blood concentration before oral administration as an index, evaluation...
Abstract Background The nonclinical as well clinical development of orphan drugs is difficult, owing to unknown pathophysiology and the absence animal models. Both, U.S. Food Drug Administration (FDA) Guidance European Medicines Agency (EMA) Guidelines, for drug describe non-clinical studies, but lack specific information, such species study design. Against this background, aimed elucidate efficient methods evaluating efficacy based on a review report approved in Japan. Results A total 184...
Abstract Background: The nonclinical as well clinical development of orphan drugs is difficult, owing to unknown pathophysiology and the absence model animals. Both, U.S. Food Drug Administration (FDA) Guidance European Medicines Agency (EMA) Guidelines, for drug describe non-clinical studies, but lack specific information, such animal species study design. Against this background, aimed elucidate efficient methods evaluating efficacy based on a review report approved in Japan. Results: A...