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Observational Study: Whole Genome Sequencing for Genetic Conditions in Children

This study, called "Diagnostic Odyssey: Whole Genome Sequencing (WGS)", is looking at how helpful Whole Genome Sequencing (WGS) is in finding genetic diagnoses for children up to 21 years old. These children have medical conditions that doctors suspect might have a genetic cause, such as multiple birth defects, developmental delays, autism, seizures, intellectual disabilities, or metabolic illnesses. The study aims to see how often WGS leads to a diagnosis, if it changes a child's medical care, how much it costs, and what families and doctors think about using this genetic testing. The main goal is to understand the value of WGS in identifying new genetic diagnoses. The study plans to enroll 1000 participants.

Study design
This is an observational study that plans to enroll 1000 children up to 21 years old.
What's involved
You would provide biological samples and clinical information. You would also consent for future access to medical records and future research on samples and data.
Compensation
Not stated in the trial record.
Follow-up
The number of patients enrolled will be measured yearly throughout study completion, up to 50 years.

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NCT03458962

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Active, Not Recruiting
Not specifiedUp to 21Observational
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
~1,000 participants
Updated 2026-08-24 on ClinicalTrials.gov
What's tested:Genetic Enrollees

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of patients enrolled per year
Measured over Yearly throughout study completion up to 50 years

Conditions

Genetic Disease
Genetic Syndrome

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Genetic DisorderJoubert syndrome with congenital hepatic fibrosis

Where it's being run

1 sites across 1 states
Florida1

Study leadership

  • Parul Jayakar, MD · PRINCIPAL_INVESTIGATOR · Nicklaus Children's Hospital

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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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.

What this trial measures

  • Number of patients enrolled per yearYearly throughout study completion up to 50 years

    Total number of enrolled patients who will undergo WGS testing