Clinical trial NCT01875640: Decision Support for Parents Receiving Information About Child's Rare Disease
Official title: Decision Support for Parents Receiving Information About Child's Rare Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Disorder of Sex Development
Intersex Conditions
Congenital Adrenal Hyperplasia
Hypospadias
Keywords: disorder of sex development
intersex
46,XX congenital adrenal hyperplasia
hypospadias
decision support tool
Lead sponsor: University of Michigan
Sponsor class: OTHER
Collaborators: name: Patient-Centered Outcomes Research Institute
name: Virginia Commonwealth University
name: Temple University
name: University of California, Los Angeles
name: Seattle Children's Hospital
First posted: 2013-06-12
Enrollment: 63
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: DSD

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.


Eligibility criteria: 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.

Primary outcomes:
measure: In-clinic communications
timeFrame: 2.5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: University of California Los Angeles
state: California
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: Philadelphia
country: United States
facility: Temple University
state: Pennsylvania
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
Study officials:
affiliation: University of Michigan
name: David E Sandberg, PhD
role: PRINCIPAL_INVESTIGATOR
References: