UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000058802 |
|---|---|
| Receipt number | R000067234 |
| Scientific Title | Identification of causative genes in Galloway-Mowat Syndrome |
| Date of disclosure of the study information | 2025/08/15 |
| Last modified on | 2025/08/14 16:29:09 |
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Basic information
Public title
Searching for the genetic cause of Galloway-Mowat Syndrome
Acronym
Searching for the cause of Galloway-Mowat Syndrome
Scientific Title
Identification of causative genes in Galloway-Mowat Syndrome
Scientific Title:Acronym
Galloway-Mowat Syndrome gene study
Region
| Japan |
Condition
Condition
Galloway-Mowat Syndrome
Classification by specialty
| Nephrology | Pediatrics |
Classification by malignancy
Others
Genomic information
YES
Objectives
Narrative objectives1
To advance the elucidation of disease mechanisms by conducting genetic analyses, including whole-genome sequencing and RNA analyses in patients in Japan with confirmed and suspected Galloway-Mowat Syndrome.
Basic objectives2
Others
Basic objectives -Others
Analysis of the relationship between genetic mutations and clinical symptoms.
Trial characteristics_1
Trial characteristics_2
Developmental phase
Assessment
Primary outcomes
To analyze genotype-phenotype correlations -i.e., associations between genetic variants and clinical manifestations- in patients in Japan with confirmed or suspected Galloway-Mowat Syndrome and, where conset is obtained, their biological relatives.
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 whom attending physician has diagnosed as having Galloway-Mowat syndrome or suspected Galloway-Mowat syndrome, in accordance with the following diagnostic criteria of Japan Intractable Disease Information Center.
Key exclusion criteria
Patients who did not provide informed consent to participate in the study.
Target sample size
20
Research contact person
Name of lead principal investigator
| 1st name | Kenji |
| Middle name | |
| Last name | Ishikura |
Organization
Kitasato University School of Medicine
Division name
Department of Pediatrics
Zip code
252-0374
Address
1-15-1 Kitazato Minamiku, Sagamihara, Kanagawa, Japan
TEL
042-778-8111
k-ishikura@umin.ac.jp
Public contact
Name of contact person
| 1st name | Chikako |
| Middle name | |
| Last name | Terano |
Organization
Kitasato University School of Medicine
Division name
Department of Pediatrics
Zip code
252-0374
Address
1-15-1 Kitazato Minamiku, Sagamihara, Kanagawa, Japan
TEL
042-778-8111
Homepage URL
chikatrex@yahoo.co.jp
Sponsor or person
Institute
Kitasato University School of Medicine
Institute
Department
Personal name
Funding Source
Organization
Ministry of Health, Labour and Welfare
Organization
Division
Category of Funding Organization
Japanese Governmental office
Nationality of Funding Organization
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
Kitasato University School of Medicine
Address
1-15-1 Kitazato Minamiku, Sagamihara, Kanagawa, Japan
Tel
042-778-8111
chikatrex@yahoo.co.jp
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
| 2025 | Year | 08 | Month | 15 | 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
| 2025 | Year | 06 | Month | 04 | Day |
Date of IRB
| 2025 | Year | 06 | Month | 04 | Day |
Anticipated trial start date
| 2025 | Year | 06 | Month | 04 | Day |
Last follow-up date
| 2029 | Year | 03 | Month | 31 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
This study collects information using a questionnaire to assess the presence of complications, including central nervous system symptoms, kidney involvement, and external malformations, as well as family history, blood test and urinalysis results, and the participant's condition at the final follow-up.
In addition, blood samples are collected for genetic testing. When available, residual samples from urine, saliva, hair roots, or kidney biopsy specimens are also used to extract genomic DNA and RNA for analysis.
Management information
Registered date
| 2025 | Year | 08 | Month | 14 | Day |
Last modified on
| 2025 | Year | 08 | Month | 14 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000067234
