Diagnostic Odyssey: Whole Genome Sequencing (WGS)
Recruiting now
Conditions studied: Genetic Disease, Genetic Syndrome
In brief
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.
Key facts
- Study ID
- NCT03458962
- Run by
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
- People needed
- 1000
- Starts
- 2018-02-20
- Expected to finish
- 2070-03-01
- Last updated by the study team
- 2024-11-07
Who can join
Age: any, up to 21. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Symptomatic male or female children ages 0-21 who have un unknown medical condition thought to have an underlying genetic cause after parental consent has been obtained.
- Willingness of referring provider or other qualified medical staff member to participate in this study by facilitating collection of biologic specimens and clinical information.
- Patient whose medical condition can be reasonably attributed to a possible genetic etiology.
- Patient have had at least one diagnostic test without a definite diagnosis.
You may not qualify if…
- Unwillingness to consent to research.
- Affected adults (>21 years of age), unless they are a biological relative of the affected child.
- Any patient whose medical condition cannot be reasonably attributed to a possible genetic etiology or there is a prior diagnosis that explains the child's clinical presentation.
Where it is running
- Nickalus Children's Hospital f/k/a Miami Children's Hospital — Miami, Florida, United States (enrolling)
Full record on ClinicalTrials.gov
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