Diagnostic Odyssey: Whole Genome Sequencing (WGS)
Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children
1 other identifier
observational
1,000
1 country
1
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 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Feb 2018
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
February 20, 2018
CompletedFirst Submitted
Initial submission to the registry
March 2, 2018
CompletedFirst Posted
Study publicly available on registry
March 8, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 1, 2070
ExpectedStudy Completion
Last participant's last visit for all outcomes
March 1, 2070
November 7, 2024
November 1, 2024
52.1 years
March 2, 2018
November 6, 2024
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Number of patients enrolled per year
Total number of enrolled patients who will undergo WGS testing
Yearly throughout study completion up to 50 years
Secondary Outcomes (4)
Diagnosis Rate of genetic diseases
Throughout study completion up to 50 years
Clinical Utility
Throughout study completion up to 50 years
Phenome
Throughout study completion up to 50 years
Clinically-confirmed diagnoses
Throughout study completion up to 50 years
Study Arms (1)
Genetic Enrollees
Enrollment of patients for whom WGS may be beneficial. Patients who are ill and for whom a genetic diagnosis is suspected but not yet established.
Interventions
Identification 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.
Eligibility Criteria
Children from 0 to 21 years suffering from unknown diagnoses seen at Nicklaus Children's Hospital
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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Nickalus Children's Hospital f/k/a Miami Children's Hospital
Miami, Florida, 33155, United States
Related Publications (2)
McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet. 2004 Jan;74(1):121-7. doi: 10.1086/381053. Epub 2003 Dec 12.
PMID: 14681831BACKGROUNDSawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoey J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22.
PMID: 26283276BACKGROUND
Biospecimen
Blood, saliva, tissue, left-over samples from residual blood, CSF, bone, stool, urine
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Parul Jayakar, MD
Nicklaus Children's Hospital
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 2, 2018
First Posted
March 8, 2018
Study Start
February 20, 2018
Primary Completion (Estimated)
March 1, 2070
Study Completion (Estimated)
March 1, 2070
Last Updated
November 7, 2024
Record last verified: 2024-11
Data Sharing
- IPD Sharing
- Will not share