Diagnostic Odyssey: Whole Genome Sequencing (WGS)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 21
SponsorNicklaus Children's Hospital f/k/a Miami Children's Hospital
About this trial
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.
Eligibility criteria
Qualifiers
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.
Disqualifiers
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.
Trial design
Treatments tested in this trial
- Genetic Enrollees
Treatment groups
1,000 Participants
are divided into 1 treatment groupSponsors and collaborators
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Collaborator
Source ClinicalTrials.gov