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Reading every gene: a new quest to end the diagnostic odyssey for sick children

NCT ID NCT03458962

Diagnosis Sponsor: Nicklaus Children's Hospital f/k/a Miami Children's Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Aug 24, 2026 · Last updated Aug 25, 2026 · Updated 1 time

Summary

This study asks whether whole genome sequencing (WGS) can identify the genetic cause of previously undiagnosed diseases in children. Researchers will enroll up to 1,000 children aged 0-21 with suspected genetic conditions, such as developmental delay, seizures, or multiple birth defects, and analyze their complete DNA. The goal is to see how often WGS provides a diagnosis, how it changes clinical care, and whether it is cost-effective. By mapping the full genetic code, this research could shorten the long and often frustrating journey to a diagnosis for families.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
Whole genome sequencing (WGS) as a diagnostic tool
What this could lead to
If successful, this could make whole genome sequencing a standard tool to end the long diagnostic journey for children with mysterious genetic conditions, enabling earlier answers and tailored care.
What could go wrong
The study is observational and exploratory, so it may not prove WGS works for everyone. Sequencing may not find a cause for many children, and results may not always change treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Feb 2018

Expected to finish

Feb 2070

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Children from 0 to 21 years suffering from unknown diagnoses seen at Nicklaus Children's Hospital

Ages

Up to 21 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

hereditary disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Genetic disease Genetic syndrome

Contacts and locations

Locations

  • Nickalus Children's Hospital f/k/a Miami Children's Hospital

    Miami, Florida, 33155, United States

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