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Decision Support for Parents Receiving Information About Child's Rare Disease (DSD DST)

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. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01875640
Recruitment Status : Active, not recruiting
First Posted : June 12, 2013
Last Update Posted : June 16, 2017
Information provided by (Responsible Party):

Study Description
Brief Summary:

The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g., should there be surgery? what kind? when?) are not obvious. While there have been large advances in diagnostic assessments like genetic and endocrine testing, the tests do not always show what caused the DSD. And, even when the tests do reveal an explanation for the DSD, knowing what happened genetically or hormonally does not usually lead to a single "correct" treatment plan. Instead, it is likely that there are different acceptable treatment options - and parents will need to make decisions based, in part, on their personal preferences, values, and cultural background. Adding more stress to the situation is knowledge that many of the decisions that need to be made by parents early in a child's life are irreversible and exert life-long consequences for the child and the family.

To support parents becoming actively involved in making such decisions, and to reduce the likelihood of future worry and regret about decisions that have been made, the investigators will create a decision support tool (DST). The DST will help educate families about typical and atypical sex development of the body, the process by which DSD are diagnosed (especially how to interpret genetic test results), and possible relationships between diagnostic/genetic testing, decisions about care, and known consequences of those decisions on their child and entire family. The DST will be used by parents of young children together with their child's health care provider.

The investigators will bring together a network of researchers, health care providers, representatives of patient support and advocacy organizations, and parents of children with DSD to share their experiences. Participants of this network will be involved at each stage of creating the DST, revising it, and putting it into practice. At the end of this project, the investigators will have a fully formed DST that will be available for parents to use with their child's healthcare team as they are first learning their child may have a DSD.

Condition or disease
Disorder of Sex Development Intersex Conditions Congenital Adrenal Hyperplasia Hypospadias

Study Design

Study Type : Observational
Estimated Enrollment : 45 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Decision Support for Parents Receiving Information About Child's Rare Disease
Study Start Date : June 2013
Primary Completion Date : May 2016
Estimated Study Completion Date : December 2017

Groups and Cohorts

Usual Care
After obtaining consent, we will audio-record standard clinical consultations with specialists represented on the DSD team. These appointments will not utilize the Decision Support Tool. A qualitative analysis of these recordings will assess quality assurance and provide guidance for the development of the Decision Support Tool.
Use of Decision Support Tool
After obtaining consent, we will audio-record standard clinical consultations with specialists represented on the DSD team. These appointments will utilize the Decision Support Tool (DST). A qualitative analysis of these recordings will assess the practicality of use and possible benefits of the DST's implementation.

Outcome Measures

Primary Outcome Measures :
  1. In-clinic communications [ Time Frame: 2.5 years ]
    To assess characteristics of communications between parents/caregivers of young children with DSD and the children's healthcare providers by audio-recording standard-of-care appointments at DSD clinic.

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Inclusion Criteria:

  • Must be a parent/caregiver of a patient who is newborn through 5 years old (i.e., 5.9 yrs).
  • Patient clinical diagnosis of ambiguous genitalia (eg, 46,XX,Prader 2+; proximal hypospadias with uni/bilateral undescended testes) or sex chromosomes discordant with genital phenotype.
  • Condition must be newly ascertained where decisions regarding surgical procedures (internal or external genitalia), diagnostic testing, and/or other aspects of clinical management have yet to be made.

Exclusion Criteria:

  • Turner syndrome, Klinefelter syndrome, bladder or cloacal exstrophy.
Contacts and Locations

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): NCT01875640

United States, California
University of California Los Angeles
Los Angeles, California, United States, 90095
United States, Michigan
University of Michigan
Ann Arbor, Michigan, United States, 48104
United States, Pennsylvania
Temple University
Philadelphia, Pennsylvania, United States, 19122
United States, Washington
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Sponsors and Collaborators
University of Michigan
Patient-Centered Outcomes Research Institute
Virginia Commonwealth University
Temple University
University of California, Los Angeles
Seattle Children's Hospital
Principal Investigator: David E Sandberg, PhD University of Michigan
More Information

Responsible Party: David E. Sandberg, PhD, Professor of Pediatrics, University of Michigan
ClinicalTrials.gov Identifier: NCT01875640     History of Changes
Other Study ID Numbers: 1360
13-PAF00134 ( Other Identifier: University of Michigan )
HUM72007 ( Other Identifier: University of Michigan )
First Posted: June 12, 2013    Key Record Dates
Last Update Posted: June 16, 2017
Last Verified: June 2017

Keywords provided by David E. Sandberg, PhD, University of Michigan:
disorder of sex development
46,XX congenital adrenal hyperplasia
decision support tool

Additional relevant MeSH terms:
Rare Diseases
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Adrenocortical Hyperfunction
Disorders of Sex Development
Pathologic Processes
Disease Attributes
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Adrenal Gland Diseases
Endocrine System Diseases
Gonadal Disorders
Penile Diseases
Genital Diseases, Male