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

This study is ongoing, but not recruiting participants.
Patient-Centered Outcomes Research Institute
Virginia Commonwealth University
Temple University
University of California, Los Angeles
Seattle Children's Hospital
Information provided by (Responsible Party):
David E. Sandberg, PhD, University of Michigan Identifier:
First received: May 30, 2013
Last updated: June 29, 2016
Last verified: June 2016

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 and tested DST that will be available for parents to use with their child's health care team as they are first learning their child may have a DSD.

Condition Intervention
Disorder of Sex Development
Intersex Conditions
Congenital Adrenal Hyperplasia
Behavioral: Decision Support Tool

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Health Services Research
Official Title: Decision Support for Parents Receiving Information About Child's Rare Disease

Resource links provided by NLM:

Further study details as provided by University of Michigan:

Primary Outcome Measures:
  • Qualitative Assessment of Focus Groups, Usual Care and DST Implementation [ Time Frame: 2.5 years ]
    To assess characteristics of communications during focus groups and between health care providers and parents before and during the implementation of the DST audiofiles will be coded and analyzed using SCCAP (Siminoff Communication Content & Affect Program). SCCAP© is a new computerized coding scheme used to facilitate, organize, and code health communication data. It is designed so that coders can code directly from audio recordings, allowing the coder to take advantage of the vocalic cues inherent in speech intonations. Transcriptions can also be uploaded and coded so specific text can be viewed and tagged for future use.

Estimated Enrollment: 45
Study Start Date: June 2013
Estimated Study Completion Date: December 2017
Primary Completion Date: May 2016 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
No Intervention: 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.
Experimental: 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.
Behavioral: Decision Support Tool
No Intervention: Focus Groups
Focus group members, recruited from advocacy organizations and by medical chart review, will provide feedback on the content and appearance of a preliminary Decision Support Tool (DST). Their comments will guide the development and implementation of the DST.


Ages Eligible for Study:   up to 6 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

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. No surgical procedures (internal or external genitalia) have been performed or other decisions made (excluding those driven by medical urgency) regarding diagnostic testing or clinical management.

Exclusion Criteria:

  • Turner syndrome, Klinefelter syndrome, bladder or cloacal exstrophy.
  Contacts and Locations
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Please refer to this study by its identifier: 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 Identifier: NCT01875640     History of Changes
Other Study ID Numbers: 1360
13-PAF00134 ( Other Identifier: University of Michigan )
HUM72007 ( Other Identifier: University of Michigan )
Study First Received: May 30, 2013
Last Updated: June 29, 2016

Keywords provided by 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 processed this record on May 23, 2017