Genetics of Differences of Sex Development and Hypospadias

Hypospadias Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03102554
• Other study ID #: IRB-P00012912
• Status: Active, not recruiting
• Phase: N/A
• Start date: January 1, 2018
• Est. completion date: December 2025

Study information

• Verified date: July 2023
• Source: Boston Children's Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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.

Description:

This study seeks to understand the genetic causes of conditions that affect the development of the genitals, such as differences of sex development (DSD) and hypospadias, and the impact on families of receiving genetic results. The investigators are recruiting individuals with DSD and/or hypospadias without a clear genetic cause along with their family members for our research study. The investigators will collect samples for genetic studies. The investigators will review the clinical record for history, labs and physical exam information. The investigators will also build a tissue bank of blood, urine, and discarded tissues from surgeries. The investigators will return results of genetic testing to parents/guardians of children with DSD/hypospadias and have them complete questionnaires to assess the impact of receiving these results.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 300
• Est. completion date: December 2025
• Est. primary completion date: December 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Disorders of Sex Development
• Hypospadias

Intervention

Genetic:
• 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.

Locations

Country	Name	City	State
United States	Boston Children's Hospital	Boston	Massachusetts

Sponsors (1)

Lead Sponsor	Collaborator
Boston Children's Hospital

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Decision Regret	Score on Decision Regret Scale	3 months after return of genetic results
Secondary	Parenting-Related Stress	Score on Parenting Stress Index	3 months after return of genetic results compared to baseline
Secondary	Child Health-Related Stress	Score on Child Health Worry Scale	3 months after return of genetic results compared to baseline
Secondary	Anxiety	Score on Generalized Anxiety Disorder-7	3 months after return of genetic results compared to baseline
Secondary	Depression	Score on Patient Health Questionnaire-9	3 months after return of genetic results compared to baseline
Secondary	Partner Relationship	Score on Kansas Marital Satisfaction Scale	3 months after return of genetic results compared to baseline
Secondary	Partner Blame	Score on this novel measure	3 months after return of genetic results compared to baseline
Secondary	Stigma	Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"	baseline, 3 months after return of genetic results
Secondary	Quality of Life score	Score on Questionnaire, "Quality of Life Related to Having a Child with a Urogenital Condition"	baseline, 3 months after return of genetic results