Actively Recruiting
Diagnostic Odyssey: Whole Genome Sequencing (WGS)
Led by Nicklaus Children's Hospital f/k/a Miami Children's Hospital · Updated on 2024-11-07
1000
Participants Needed
1
Research Sites
2714 weeks
Total Duration
On this page
Sponsors
N
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Lead Sponsor
R
Rady Pediatric Genomics & Systems Medicine Institute
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Diagnostic Odyssey: Whole Genome Sequencing (WGS)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Symptomatic male or female children ages 0-21 who have an 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 will not qualify if you...
- 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.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Nickalus Children's Hospital f/k/a Miami Children's Hospital
Miami, Florida, United States, 33155
Actively Recruiting
Research Team
D
Diana Soler, CRC
CONTACT
J
Jenny Esteves, MBA/MHSA
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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