UMIN-ICDS Clinical Trial
| Unique ID issued by UMIN | UMIN000061813 |
|---|---|
| Receipt number | R000070732 |
| Scientific Title | A Multicenter Prospective Study on the Clinical Implementation of Rapid Genomic Diagnosis and the Development of a Family Support Program for Neonates with Differences of Sex Development and Uncertain Legal Sex Assignment |
| Date of disclosure of the study information | 2026/07/01 |
| Last modified on | 2026/06/05 23:21:55 |
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Basic information
Public title
A Multicenter Prospective Study on the Clinical Implementation of Rapid Genomic Diagnosis and the Development of a Family Support Program for Neonates with Differences of Sex Development and Uncertain Legal Sex Assignment
Acronym
Bridging Rapid Investigation, Diagnosis, Genomics, and Engagement for DSD (BRIDGE-DSD)
Scientific Title
A Multicenter Prospective Study on the Clinical Implementation of Rapid Genomic Diagnosis and the Development of a Family Support Program for Neonates with Differences of Sex Development and Uncertain Legal Sex Assignment
Scientific Title:Acronym
Bridging Rapid Investigation, Diagnosis, Genomics, and Engagement for DSD (BRIDGE-DSD)
Region
| Japan |
Condition
Condition
Differences of Sex Development
Classification by specialty
| Endocrinology and Metabolism | Pediatrics |
Classification by malignancy
Others
Genomic information
YES
Objectives
Narrative objectives1
This multicenter, prospective observational (registry) study evaluates the clinical feasibility of rapid genomic diagnosis and the usefulness of a multidisciplinary family-support program for newborns with differences of sex development (DSD) in whom legal sex assignment is difficult. It also assesses the effectiveness of shared decision-making support for sex assignment, longitudinal changes in parental psychological status and family quality of life, and differences in outcomes according to the availability of multidisciplinary care, while establishing a nationwide registry of neonatal DSD.
Basic objectives2
Others
Basic objectives -Others
bservational study and registry to evaluate the feasibility of implementing rapid genomic diagnosis and to assess the usefulness of a family-support program.
Trial characteristics_1
Others
Trial characteristics_2
Developmental phase
Not applicable
Assessment
Primary outcomes
Diagnostic yield: the proportion of patients in whom rapid genomic testing identifies a pathogenic (P) or likely pathogenic (LP) variant and establishes a molecular genetic diagnosis, assessed during the study observation period.
Key secondary outcomes
1. Time to diagnosis: days from the first visit to the date the analysis result is reported to each site, and the corresponding age in days.
2. Time to legal sex assignment: days from the first visit to the date the sex field of the birth registration is submitted, and the corresponding age in days.
3. Distribution of DSD etiologies and distribution of the External Genitalia Score (EGS).
4. Proportion of cases with correction of the legally assigned sex at 1 and 5 years of age.
5. Quality of shared decision-making (SDM-Q-9).
6. Parental scores and longitudinal changes in psychological distress (K10), traumatic stress (IES-R), decision regret (DRS), perceived uncertainty (PPUS), and the concept of gender (HABS, GDS, GES, etc.).
7. Exploratory between-group comparison of the multidisciplinary-team sites and the collaborating sites.
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
| 14 | days-old | >= |
Gender
Male and Female
Key inclusion criteria
1. Newborns with DSD under 14 days of age in whom the attending physician has deferred legal sex assignment, with an External Genitalia Score (EGS) of >=0.5 that is below the 10th percentile for boys by gestational age (10.5 at >=33 weeks, 9.0 at 28-32 weeks, 8.5 at <28 weeks).
2. Patients who began care at a participating site of this study.
3. Patients for whom written consent has been obtained from a parent (legally authorized representative).
Key exclusion criteria
1. Patients with a prenatally identified numerical sex-chromosome abnormality or similar finding.
2. Patients with a high likelihood of congenital adrenal hyperplasia, such as those with skin hyperpigmentation.
3. Patients judged to have a poor life prognosis due to serious comorbidities.
4. Any other patient judged unsuitable by the principal investigator.
Target sample size
50
Research contact person
Name of lead principal investigator
| 1st name | Tomohiro |
| Middle name | |
| Last name | Ishii |
Organization
Tokyo Metropolitan Children's Medical Center
Division name
Department of Endocrinology and Metabolism
Zip code
183-8561
Address
2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan
TEL
042-300-5111
tomishii@keio.jp
Public contact
Name of contact person
| 1st name | Tomohiro |
| Middle name | |
| Last name | Ishii |
Organization
Tokyo Metropolitan Children's Medical Center
Division name
Department of Endocrinology and Metabolism (Study Office)
Zip code
183-8561
Address
2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan
TEL
042-300-5111
Homepage URL
tomishii@keio.jp
Sponsor or person
Institute
Tokyo Metropolitan Children's Medical Center
Institute
Department
Personal name
Tomohiro Ishii
Funding Source
Organization
Japan Agency for Medical Research and Development (AMED)
Organization
Division
Category of Funding Organization
Japanese Governmental office
Nationality of Funding Organization
Japan
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
"Central Research Ethics Committee of Tokyo Metropolitan Organization
Address
2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan
Tel
042-300-5111
tmerp_erb@tmhp.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
東京都立小児総合医療センター（東京都）、倉敷中央病院（岡山県）、長野県立こども病院（長野県）、大阪市立総合医療センター（大阪府）、あいち小児保健医療総合センター（愛知県）、大阪母子医療センター（大阪府）、名古屋市立大学（愛知県）、慶應義塾大学（東京都）、滋賀医科大学（滋賀県）、新潟大学（新潟県）、鹿児島大学（鹿児島県）、兵庫県立こども病院（兵庫県）、成育医療研究センター（東京都）、福岡市立こども病院（福岡県）、岡山大学（岡山県）、東京科学大学（東京都）、宮城県立こども病院（宮城県）、関西医科大学（大阪府）、愛知医科大学（愛知県）、東京大学（東京都）、浜松医科大学（静岡県）、秋田大学（秋田県）、北海道大学（北海道）、国立病院機構甲府病院（山梨県）、長崎大学（長崎県）、国立病院機構小倉医療センター（福岡県）、広島大学（広島県）、旭川医科大学（北海道）、山梨大学（山梨県）、国立病院機構岡山医療センター（岡山県）、岐阜大学（岐阜県）、千葉大学（千葉県）、熊本大学（熊本県）、静岡県立こども病院（静岡県）、弘前大学（青森県）、大分大学（大分県）、東北大学（宮城県）、沖縄県立中部病院（沖縄県）、大阪大学（大阪府）、埼玉医科大学（埼玉県）、奈良県立医科大学（奈良県）、藤田医科大学（愛知県）、東京歯科大学市川総合病院（千葉県）、川崎市立川崎病院（神奈川県）、京都府立医科大学（京都府）、産業医科大学（福岡県）、福岡大学（福岡県）、富山大学（富山県）、新潟市民病院（新潟県）、東京慈恵会医科大学（東京都）、順天堂大学（東京都）、明治大学（東京都）
Other administrative information
Date of disclosure of the study information
| 2026 | Year | 07 | Month | 01 | 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
Preinitiation
Date of protocol fixation
| 2026 | Year | 06 | Month | 05 | Day |
Date of IRB
| 2026 | Year | 02 | Month | 12 | Day |
Anticipated trial start date
| 2026 | Year | 07 | Month | 01 | Day |
Last follow-up date
| 2035 | Year | 03 | Month | 31 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
Nothing particular
Management information
Registered date
| 2026 | Year | 06 | Month | 05 | Day |
Last modified on
| 2026 | Year | 06 | Month | 05 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000070732
