This trial is active, not recruiting.

Conditions disorder of sex development, intersex conditions, congenital adrenal hyperplasia, hypospadias
Treatment decision support tool
Sponsor University of Michigan
Collaborator Patient-Centered Outcomes Research Institute
Start date June 2013
End date May 2016
Trial size 45 participants
Trial identifier NCT01875640, 13-PAF00134, 1360, HUM72007


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Allocation non-randomized
Endpoint classification efficacy study
Intervention model parallel assignment
Masking open label
Primary purpose health services research
(No Intervention)
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.
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.
decision support tool
(No Intervention)
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.

Primary Outcomes

Qualitative Assessment of Focus Groups, Usual Care and DST Implementation
time frame: 2.5 years

Eligibility Criteria

Male or female participants up to 6 years old.

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.

Additional Information

Official title Decision Support for Parents Receiving Information About Child's Rare Disease
Principal investigator David E Sandberg, PhD
Trial information was received from ClinicalTrials.gov and was last updated in June 2016.
Information provided to ClinicalTrials.gov by University of Michigan.