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Genetics of Differences of Sex Development and Hypospadias

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03102554
Recruitment Status : Recruiting
First Posted : April 5, 2017
Last Update Posted : February 9, 2023
Sponsor:
Information provided by (Responsible Party):
Yee-Ming Chan, Boston Children's Hospital

Study Description
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Top of Page Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information
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.

Condition or disease Intervention/treatment Phase
Disorders of Sex Development Hypospadias Genetic: Return of Genetic Results Not Applicable

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 Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 300 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Intervention Model Description: Longitudinal cohort
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias
Actual Study Start Date : January 1, 2018
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

Resource links provided by the National Library of Medicine


Arms and Interventions
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Arm Intervention/treatment
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.
 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.


Outcome Measures
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Primary Outcome Measures :
  1. Decision Regret [ Time Frame: 3 months after return of genetic results ]
    Score on Decision Regret Scale


Secondary Outcome Measures :
  1. Parenting-Related Stress [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Parenting Stress Index

  2. Child Health-Related Stress [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Child Health Worry Scale

  3. Anxiety [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Generalized Anxiety Disorder-7

  4. Depression [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Patient Health Questionnaire-9

  5. Partner Relationship [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Kansas Marital Satisfaction Scale

  6. Partner Blame [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on this novel measure

  7. Stigma [ Time Frame: baseline, 3 months after return of genetic results ]
    Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"

  8. 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"


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03102554


Contacts
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Contact: Alayna Dutcher, BA 6173550741 alayna.dutcher@childrens.harvard.edu
Contact: Sarah Schlegel, MD sarah.schlegel@childrens.harvard.edu

Locations
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United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Alayna Dutcher, BA       alayna.dutcher@childrens.harvard.edu   
Sponsors and Collaborators
Boston Children's Hospital
Investigators
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Principal Investigator: Yee-Ming Chan, MD, PhD Boston Children's Hospital
More Information
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Responsible Party: Yee-Ming Chan, Assistant Professor of Pediatrics, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT03102554    
Other Study ID Numbers: IRB-P00012912
First Posted: April 5, 2017    Key Record Dates
Last Update Posted: February 9, 2023
Last Verified: February 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Yee-Ming Chan, Boston Children's Hospital:
Exome Sequencing
Additional relevant MeSH terms:
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Hypospadias
Disorders of Sex Development
Urogenital Abnormalities
Female Urogenital Diseases
Female Urogenital Diseases and Pregnancy Complications
Urogenital Diseases
Penile Diseases
 Genital Diseases, Male
Genital Diseases
Male Urogenital Diseases
Congenital Abnormalities
Gonadal Disorders
Endocrine System Diseases