UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000000529 |
|---|---|
| Receipt number | R000000631 |
| Scientific Title | Gene analysis associated with short stature and growth hormone responsiveness |
| Date of disclosure of the study information | 2006/12/01 |
| Last modified on | 2015/05/28 15:19:29 |
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Basic information
Public title
Gene analysis associated with short stature and growth hormone responsiveness
Acronym
Gene analysis associated with short stature and growth hormone responsiveness
Scientific Title
Gene analysis associated with short stature and growth hormone responsiveness
Scientific Title:Acronym
Gene analysis associated with short stature and growth hormone responsiveness
Region
| Japan |
Condition
Condition
famirial short stature, idopathic short stature, Noonan syndrome, and good/poor respoders of growth hormone therapy
Classification by specialty
| Pediatrics |
Classification by malignancy
Others
Genomic information
YES
Objectives
Narrative objectives1
1)Invetigation of the cause of human growth failure in association with known genes related to growth, 2)identification of causing gene of growth failure such as intrauterine growth retardation and Noonan syndrome, and 3)investigation of gene responsiveness to growth hormone therapy
Basic objectives2
Others
Basic objectives -Others
Invstigation of cause of the diseases
Trial characteristics_1
Trial characteristics_2
Developmental phase
Assessment
Primary outcomes
gene analysis and functional assay
Key secondary outcomes
Base
Study type
Observational
Study design
Basic design
Randomization
Randomization unit
Blinding
Control
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment
Intervention
No. of arms
Purpose of intervention
Type of intervention
Interventions/Control_1
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
Patients of growth impairment 1) who are informed that he or she might have agenetic disease, 2) who can see the pediatric endocrinologist and can
Key exclusion criteria
none
Target sample size
100
Research contact person
Name of lead principal investigator
| 1st name | |
| Middle name | |
| Last name | Tomonobu Hasegawa |
Organization
Keio University, School of Medicine
Division name
Department of Pediatrics
Zip code
Address
35 Shinanomachi, Shinjuku-ku, Tokyo
TEL
03-3353-1211
thaseg@a6.keio.jp
Public contact
Name of contact person
| 1st name | |
| Middle name | |
| Last name | Tomonobu Hasegawa |
Organization
Keio University, School of Medicine
Division name
Department of Pediatrics
Zip code
Address
35 Shinanomachi, Shinjyuku-ku, Tokyo
TEL
03-3353-1211
Homepage URL
thaseg@a6.keio.jp
Sponsor or person
Institute
Keio University, School of Medicine
Institute
Department
Personal name
Funding Source
Organization
Foundation for Growth Science
Organization
Division
Category of Funding Organization
Non profit foundation
Nationality of Funding Organization
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
Other administrative information
Date of disclosure of the study information
| 2006 | Year | 12 | Month | 01 | Day |
Related information
URL releasing protocol
Publication of results
Published
Result
URL related to results and publications
http://press.endocrine.org/doi/abs/10.1210/jc.2013-3525
Number of participants that the trial has enrolled
Results
We identified heterozygous NPR2 mutations in 2% of Japanese patients with short
stature. Our in vitro findings indicate that NPR2 mutations have a dominant negative effect, and
their dominant-negative mechanisms vary corresponding to the molecular pathogenesis of the
mutations. (J Clin Endocrinol Metab 99: E713, 2014)
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
Completed
Date of protocol fixation
| 2004 | Year | 06 | Month | 01 | Day |
Date of IRB
Anticipated trial start date
| 2004 | Year | 06 | Month | 01 | Day |
Last follow-up date
| 2009 | Year | 05 | Month | 01 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
We identified heterozygous NPR2 mutations in 2% of Japanese patients with short
stature.
Management information
Registered date
| 2006 | Year | 11 | Month | 27 | Day |
Last modified on
| 2015 | Year | 05 | Month | 28 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000000631
| Research Plan | |
|---|---|
| Registered date | File name |
| Research case data specifications | |
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| Registered date | File name |
| Research case data | |
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| Registered date | File name |
