Status:
RECRUITING
Diagnostic Odyssey: Whole Genome Sequencing (WGS)
Lead Sponsor:
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Collaborating Sponsors:
Rady Pediatric Genomics & Systems Medicine Institute
Conditions:
Genetic Disease
Genetic Syndrome
Eligibility:
All Genders
Up to 21 years
Brief Summary
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 underst...
Detailed Description
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, in order ...
Eligibility Criteria
Inclusion
- 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.
Exclusion
- 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.
Key Trial Info
Start Date :
February 20 2018
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
March 1 2070
Estimated Enrollment :
1000 Patients enrolled
Trial Details
Trial ID
NCT03458962
Start Date
February 20 2018
End Date
March 1 2070
Last Update
November 7 2024
Active Locations (1)
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1
Nickalus Children's Hospital f/k/a Miami Children's Hospital
Miami, Florida, United States, 33155