UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000007374 |
|---|---|
| Receipt number | R000008684 |
| Scientific Title | Gene testing of Gitelman syndrome |
| Date of disclosure of the study information | 2012/02/24 |
| Last modified on | 2012/02/24 16:51:49 |
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Basic information
Public title
Gene testing of Gitelman syndrome
Acronym
DNA analysis of SLC12A3 mutation with patients suspected of Gitelman syndrome and their families.
Scientific Title
Gene testing of Gitelman syndrome
Scientific Title:Acronym
DNA analysis of SLC12A3 mutation with patients suspected of Gitelman syndrome and their families.
Region
| Japan |
Condition
Condition
Gitelman syndrome
Classification by specialty
| Medicine in general | Cardiology | Endocrinology and Metabolism |
| Nephrology |
Classification by malignancy
Others
Genomic information
YES
Objectives
Narrative objectives1
Giltelman syndrome (GS) is a recessive salt-losing tubulopathy of children or young adults caused by a mutation of genes encoding the human sodium chloride cotransporters and magnesium channels in the thiazide-sensitive segments of the distal convoluted tubule. The plasma biochemical picture is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hypereninemic hyperaldosteronism.
The prognosis of GS is generally good, but a few patients may be at risk of developing cardiac arrhythmias. Patients with severe hypokalemia are susceptible to cardiac arrhythmias, which may even be life threatening, when joined with severe hypomagnesemia and alkalosis.
And the patients need to take large amounts of potassium and magnesium for life.
There is no reliable simple load test, genetic testing is useful in doubtful cases.
Basic objectives2
Bio-equivalence
Basic objectives -Others
Trial characteristics_1
Confirmatory
Trial characteristics_2
Developmental phase
Assessment
Primary outcomes
To detect the mutations involve the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC).
Key secondary outcomes
Base
Study type
Interventional
Study design
Basic design
Single arm
Randomization
Non-randomized
Randomization unit
Blinding
Open -but assessor(s) are blinded
Control
Uncontrolled
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment
Intervention
No. of arms
1
Purpose of intervention
Diagnosis
Type of intervention
| Gene |
Interventions/Control_1
collection of 5ml of peripheral blood
Interventions/Control_2
Interventions/Control_3
Interventions/Control_4
Interventions/Control_5
Interventions/Control_6
Interventions/Control_7
Interventions/Control_8
Interventions/Control_9
Interventions/Control_10
Eligibility
Age-lower limit
| Not applicable |
Age-upper limit
| Not applicable |
Gender
Male and Female
Key inclusion criteria
clinically suspected patients and their family
Key exclusion criteria
if the patients or their families refuse this test.
Target sample size
10
Research contact person
Name of lead principal investigator
| 1st name | |
| Middle name | |
| Last name | Yoshiyuki Toya |
Organization
Yokohama City University
Division name
Department of Medical Science and Cardiorenal Medicine
Zip code
Address
3-9 Fukuura, Kanzawa-ku, Yokohama 236-0004, JAPAN
TEL
Public contact
Name of contact person
| 1st name | |
| Middle name | |
| Last name | Midori Kakimoto |
Organization
Yokohama City University
Division name
Department of Medical Science and Cardiorenal Medicine
Zip code
Address
3-9 Fukuura, Kanzawa-ku, Yokohama 236-0004, JAPAN
TEL
045-787-2800
Homepage URL
Sponsor or person
Institute
Department of Medical Science and Cardiorenal Medicine, Yokohama City University Graduate School of Medicine
Institute
Department
Personal name
Funding Source
Organization
Department of Medical Science and Cardiorenal Medicine, Yokohama City University Graduate School of Medicine
Organization
Division
Category of Funding Organization
Self funding
Nationality of Funding Organization
Japan
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
Address
Tel
Secondary IDs
Secondary IDs
NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW
Institutions
Institutions
横浜市立大学附属病院（神奈川県）
弘前大学医学部附属病院（青森県)
Other administrative information
Date of disclosure of the study information
| 2012 | Year | 02 | Month | 24 | Day |
Related information
URL releasing protocol
Publication of results
Unpublished
Result
URL related to results and publications
Number of participants that the trial has enrolled
Results
Results date posted
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
Outcome measures
Plan to share IPD
IPD sharing Plan description
Progress
Recruitment status
Open public recruiting
Date of protocol fixation
| 2012 | Year | 02 | Month | 01 | Day |
Date of IRB
Anticipated trial start date
| 2012 | Year | 02 | Month | 01 | Day |
Last follow-up date
| 2017 | Year | 01 | Month | 01 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
Management information
Registered date
| 2012 | Year | 02 | Month | 24 | Day |
Last modified on
| 2012 | Year | 02 | Month | 24 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000008684
