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Genetics of Differences of Sex Development and Hypospadias

Primary Purpose

Disorders of Sex Development, Hypospadias

Status

Active

Phase

Not Applicable

Locations

United States

Study Type

Interventional

Intervention

Return of Genetic Results

About this trial

This is an interventional diagnostic trial for Disorders of Sex Development focused on measuring Exome Sequencing

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

Boston Children's Hospital

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Genetic Testing

Arm Description

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.

Outcomes

Primary Outcome Measures

Decision Regret

Score on Decision Regret Scale

Secondary Outcome Measures

Parenting-Related Stress

Score on Parenting Stress Index

Child Health-Related Stress

Score on Child Health Worry Scale

Anxiety

Score on Generalized Anxiety Disorder-7

Depression

Score on Patient Health Questionnaire-9

Partner Relationship

Score on Kansas Marital Satisfaction Scale

Partner Blame

Score on this novel measure

Stigma

Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"

Quality of Life score

Score on Questionnaire, "Quality of Life Related to Having a Child with a Urogenital Condition"

Full Information

NCT ID

NCT03102554

First Posted

March 27, 2017

Last Updated

July 20, 2023

Sponsor

Boston Children's Hospital

1. Study Identification

Unique Protocol Identification Number

NCT03102554

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

Study Type

Interventional

2. Study Status

Record Verification Date

July 2023

Overall Recruitment Status

Active, not recruiting

Study Start Date

January 1, 2018 (Actual)

Primary Completion Date

December 2025 (Anticipated)

Study Completion Date

December 2025 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Principal Investigator

Name of the Sponsor

Boston Children's Hospital

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

Data Monitoring Committee

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Disorders of Sex Development, Hypospadias

Keywords

Exome Sequencing

7. Study Design

Primary Purpose

Diagnostic

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Model Description

Longitudinal cohort

Masking

None (Open Label)

Allocation

N/A

Enrollment

300 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title

Genetic Testing

Arm Type

Experimental

Arm Description

Intervention Type

Genetic

Intervention Name(s)

Return of Genetic Results

Intervention Description

The results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results.

Primary Outcome Measure Information:

Title

Decision Regret

Description

Score on Decision Regret Scale

Time Frame

3 months after return of genetic results

Secondary Outcome Measure Information:

Title

Parenting-Related Stress

Description

Score on Parenting Stress Index

Time Frame