Unique ID issued by UMIN | UMIN000027868 |
---|---|
Receipt number | R000029083 |
Scientific Title | Gene research for familial hypercholesterolemia using next-generation sequencing technology |
Date of disclosure of the study information | 2017/06/23 |
Last modified on | 2020/06/24 10:18:51 |
Gene research for familial hypercholesterolemia using next-generation sequencing technology
Gene research for familial hypercholesterolemia
Gene research for familial hypercholesterolemia using next-generation sequencing technology
Gene research for familial hypercholesterolemia
Japan |
Familial hypercholesterolemia
Familial hypocholesterlemia
Medicine in general |
Others
YES
The objectives of this study is to elucidate the mutation in the lipid metabolism gene among familial dyslipidemia patients using next-generation sequencing technique.
Others
To elucidate the new mutation in the lipid metabolism gene if well-known gene mutation is not detected.
Exploratory
Explanatory
Not applicable
The ratio of gene mutation in lipid metabolism gene among familial dyslipidemia patients
Interventional
Single arm
Non-randomized
Open -no one is blinded
Uncontrolled
NO
NO
1
Diagnosis
Other |
Blood sampling for parents of diagnosed familial dyslipidemia patients
20 | years-old | <= |
Not applicable |
Male and Female
Patients who are suspected for familial dyslipidemia and meet one of the below criteria.
1)LDL-C > 250 mg/dl
2)LDL-C < 30 mg/dl
3)HDL-C > 130 mg/dl
4)HDL-C < 25 mg/dl
5)TG > 1200 mg/dl
6)TG < 20 mg/dl
1) Patients with severe liver damage
2) Patients with severe kidney damage
3) Patients with severe metal disorder such as shizophrenia
50
1st name | Masahiko |
Middle name | |
Last name | Kurabayashi |
Gunma University Graduate School of Medicine
Department of Medicine and Biological Science
3718511
3-35-19 Showa, Maebashi, Gunma , Japan
027-220-8145
mkuraba@gunma-u.ac.jp
1st name | Yoshiaki |
Middle name | |
Last name | Ohyama |
Gunma University Hospital
Clinical Investigation and Research Unit
3718511
3-35-19 Showa, Maebashi, Gunma , Japan
027-220-8740
yoshiaki-ohyama@gunma-u.ac.jp
Gunma University
none
Other
Gunma University Ethical Review Board for Medical Research Involving Human Subjects
3-39-15 Showa, Maebashi, Gunma, Japan
027-220-7111
hitotaisho-ciru@ml.gunma-u.ac.jp
NO
2017 | Year | 06 | Month | 23 | Day |
none
Unpublished
none
3
3 patients were included. No mutation for dyslipidemia was detected.
2020 | Year | 06 | Month | 24 | Day |
3 Patients who are suspected for ideopathic hyperlipidemia
written informed consent
none
mutation for ideopathic hyperlipidemia
Completed
2017 | Year | 01 | Month | 06 | Day |
2017 | Year | 01 | Month | 06 | Day |
2017 | Year | 01 | Month | 06 | Day |
2018 | Year | 03 | Month | 31 | Day |
2018 | Year | 03 | Month | 31 | Day |
2017 | Year | 06 | Month | 22 | Day |
2020 | Year | 06 | Month | 24 | Day |
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000029083