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Diagnostic Odyssey: Whole Genome Sequencing (WGS)

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ClinicalTrials.gov Identifier: NCT03458962
Recruitment Status : Enrolling by invitation
First Posted : March 8, 2018
Last Update Posted : March 8, 2018
Sponsor:
Collaborator:
Rady Pediatric Genomics & Systems Medicine Institute
Information provided by (Responsible Party):
Parul Jayakar, Nicklaus Children's Hospital f/k/a Miami Children's Hospital

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.

Condition or disease Intervention/treatment
Genetic Disease Genetic Syndrome Genetic: Genetic Enrollees

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children
Actual Study Start Date : February 20, 2018
Estimated Primary Completion Date : March 2070
Estimated Study Completion Date : March 2070

Group/Cohort Intervention/treatment
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.
Genetic: Genetic Enrollees
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.



Primary Outcome Measures :
  1. Number of patients enrolled per year [ Time Frame: Yearly throughout study completion up to 50 years ]
    Total number of enrolled patients who will undergo WGS testing


Secondary Outcome Measures :
  1. Diagnosis Rate of genetic diseases [ Time Frame: Throughout study completion up to 50 years ]
    Proportion of diagnosis rate of genetic diseases by WGS in previously undiagnosed patients

  2. Clinical Utility [ Time Frame: Throughout study completion up to 50 years ]
    Total number of clinical utility of WGS in the case and management of patients

  3. Phenome [ Time Frame: Throughout study completion up to 50 years ]
    Total number of biological samples and associated clinical data who have a genetic disease and their family members

  4. Clinically-confirmed diagnoses [ Time Frame: Throughout study completion up to 50 years ]
    Proportion of clinically-confirmed genomic diagnoses and treatment guidance through the use of new research technologies


Biospecimen Retention:   Samples With DNA
Blood, saliva, tissue, left-over samples from residual blood, CSF, bone, stool, urine


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children from 0 to 21 years suffering from unknown diagnoses seen at Nicklaus Children's Hospital
Criteria

Inclusion Criteria:

  • 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 Criteria:

  • 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03458962


Locations
United States, Florida
Nickalus Children's Hospital f/k/a Miami Children's Hospital
Miami, Florida, United States, 33155
Sponsors and Collaborators
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Rady Pediatric Genomics & Systems Medicine Institute
Investigators
Principal Investigator: Parul Jayakar, MD Nicklaus Children's Hospital

Publications:
Responsible Party: Parul Jayakar, Director Clinical Genetics and Metabolism, Nicklaus Children's Hospital f/k/a Miami Children's Hospital
ClinicalTrials.gov Identifier: NCT03458962     History of Changes
Other Study ID Numbers: (WGS) Protocol #20172859
First Posted: March 8, 2018    Key Record Dates
Last Update Posted: March 8, 2018
Last Verified: February 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Parul Jayakar, Nicklaus Children's Hospital f/k/a Miami Children's Hospital:
Nicklaus Children's
Pediatric
Genomic
Precision Medicine
Biorepository
Rady Children's

Additional relevant MeSH terms:
Genetic Diseases, Inborn