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
This trial does not accept healthy volunteersQualifiers
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 population
Children from 0 to 21 years suffering from unknown diagnoses seen at Nicklaus Children's Hospital
Trial design
Design model
Family-based
Time perspective
Prospective
Treatments tested in this trial
Genetic Enrollees
GeneticIdentification of new genetic diagnoses in children with multiple congenital anomalies, developmental delay, autism, seizures, intellectual disabilities, neurodegenerative disorders and metabolic illness. Samples and data will be stored in a pediatric biorepository. A subset of samples will undergo genetic/genomic analysis.
Treatment groups
1,000 Participants
are divided into 1 treatment groupGroup A: Genetic Enrollees1 intervention
Trial outcomes
Primary outcomes
1
Number of patients enrolled per year
Total number of enrolled patients who will undergo WGS testing
Time frame
Yearly throughout study completion up to 50 yearsSecondary outcomes
1
Diagnosis Rate of genetic diseases
Proportion of diagnosis rate of genetic diseases by WGS in previously undiagnosed patients
Time frame
Throughout study completion up to 50 years2
Clinical Utility
Total number of clinical utility of WGS in the case and management of patients
Time frame
Throughout study completion up to 50 years3
Phenome
Total number of biological samples and associated clinical data who have a genetic disease and their family members
Time frame
Throughout study completion up to 50 years4
Clinically-confirmed diagnoses
Proportion of clinically-confirmed genomic diagnoses and treatment guidance through the use of new research technologies
Time frame
Throughout study completion up to 50 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Collaborator
Source ClinicalTrials.gov