Genetics of Differences of Sex Development and Hypospadias

• ClinicalTrials.gov Identifier: NCT03102554
• Recruitment Status: Active, not recruiting
• First Posted: April 5, 2017
• Last Update Posted: July 24, 2023
• Sponsor: Boston Children's Hospital
• Information provided by (Responsible Party): Yee-Ming Chan, Boston Children's Hospital

Tracking Information

• First Submitted Date: March 27, 2017
• First Posted Date: April 5, 2017
• Last Update Posted Date: July 24, 2023
• Actual Study Start Date: January 1, 2018
• Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: March 30, 2017)

Decision Regret [ Time Frame: 3 months after return of genetic results ]

Score on Decision Regret Scale

• Original Primary Outcome Measures: Same as current

Current Secondary Outcome Measures (submitted: February 5, 2019)

• Parenting-Related Stress [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Parenting Stress Index
• Child Health-Related Stress [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Child Health Worry Scale
• Anxiety [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Generalized Anxiety Disorder-7
• Depression [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Patient Health Questionnaire-9
• Partner Relationship [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Kansas Marital Satisfaction Scale
• Partner Blame [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on this novel measure
• Stigma [ Time Frame: baseline, 3 months after return of genetic results ]
  Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"
• Quality of Life score [ Time Frame: baseline, 3 months after return of genetic results ]
  Score on Questionnaire, "Quality of Life Related to Having a Child with a Urogenital Condition"

Original Secondary Outcome Measures (submitted: March 30, 2017)

• Parenting-Related Stress [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Parenting Stress Index
• Child Health-Related Stress [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Child Health Worry Scale
• Anxiety [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Generalized Anxiety Disorder-7
• Depression [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Patient Health Questionnaire-9
• Partner Relationship [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on Kansas Marital Satisfaction Scale
• Partner Blame [ Time Frame: 3 months after return of genetic results compared to baseline ]
  Score on this novel measure
• Stigma [ Time Frame: baseline, 3 months after return of genetic results ]
  Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"
• Quality of Life [ Time Frame: baseline, 3 months after return of genetic results ]
  Score on Questionnaire, "Quality of Life Related to Having a Child with a Urogenital Condition"

• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Genetics of Differences of Sex Development and Hypospadias
• Official Title: Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias
• Brief 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.
• Detailed 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.
• Study Type: Interventional
• Study Phase: Not Applicable

Study Design

Allocation: N/A
Intervention Model: Single Group Assignment
Intervention Model Description:

Longitudinal cohort

Masking: None (Open Label)
Primary Purpose: Diagnostic

Condition

• 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.

Study Arms

Experimental: Genetic Testing

Subjects will provide a DNA sample, which will be screened for variants in genes related to DSD/hypospadias. Probands/parents who wish to receive results of genetic testing related to DSD/hypospadias will receive these results directly from the research study. Parents who receive results of genetic testing for probands 17 years old or younger will complete questionnaires at the time of enrollment, right after receiving genetic results, and 3 months after receiving genetic results.

Intervention: Genetic: Return of Genetic Results

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Active, not recruiting
• Estimated Enrollment (submitted: March 30, 2017): 300
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: December 2025
• Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)

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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: Child, Adult, Older Adult
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT03102554
• Other Study ID Numbers: IRB-P00012912
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

IPD Sharing Statement

• Plan to Share IPD: No

• Current Responsible Party: Yee-Ming Chan, Boston Children's Hospital
• Original Responsible Party: Same as current
• Current Study Sponsor: Boston Children's Hospital
• Original Study Sponsor: Same as current
• Collaborators: Not Provided

Investigators

• Principal Investigator: Yee-Ming Chan, MD, PhD; Boston Children's Hospital

• PRS Account: Boston Children's Hospital
• Verification Date: July 2023