Decision Support for Parents Receiving Information About Child's Rare Disease



Status:Completed
Conditions:Endocrine, Hematology
Therapuetic Areas:Endocrinology, Hematology
Healthy:No
Age Range:Any
Updated:2/22/2018
Start Date:June 2013
End Date:December 2017

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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.


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.
We found this trial at
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500 S State St
Ann Arbor, Michigan 48109
(734) 764-1817
Principal Investigator: David Sandberg, PhD
University of Michigan The University of Michigan was founded in 1817 as one of the...
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Los Angeles, California 90095
310-825-4321
Principal Investigator: Eric Vilain, Phd, MD
University of California at Los Angeles The University of California, Los Angeles (UCLA) is an...
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1801 N Broad St
Philadelphia, Pennsylvania 19122
(215) 204-7000
Principal Investigator: Laura Siminoff, PhD
Temple University Temple University is many things to many people. A place to pursue life's...
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4800 Sand Point Way NE
Seattle, Washington 98105
(206) 987-2000
Principal Investigator: Margarett Shnorhavorian, MD, MPH
Seattle Children's Hospital Seattle Children’s Hospital specializes in meeting the unique physical, emotional and developmental...
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Seattle, WA
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