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Clinical trial

Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias

ID
Name
IRB-P00012912
Description
This study seeks to identify genetic causes of conditions that affect the gonads and genitals, and to study the impact on families of receiving genetic results.
Trial arms
Trial start
2018-01-01
Estimated PCD
2025-12-01
Trial end
2025-12-01
Status
Active (not recruiting)
Treatment
Return of Genetic Results
The results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results.
Arms:
Genetic Testing
Size
300
Primary endpoint
Decision Regret
3 months after return of genetic results
Eligibility criteria
Inclusion Criteria: * Genital or gonadal abnormalities as evidenced by physical examination or imaging (including but not limited to hypospadias, microphallus, clitoromegaly, ambiguous genitalia), with no cause identified by standard clinical evaluation Exclusion Criteria: * Inability to provide informed consent
Protocol
{'studyType': 'INTERVENTIONAL', 'phases': ['NA'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'interventionModelDescription': 'Longitudinal cohort', 'primaryPurpose': 'DIAGNOSTIC', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 300, 'type': 'ESTIMATED'}}
Updated at
2023-07-24

1 organization

1 product

2 indications

Organization
Boston Children's Hospital
Product
Genetic Results
Indication
Disorders of Sex Development
Indication
Hypospadias