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Can a simple genetic test improve diagnosis of developmental disorders?

NCT ID NCT02414438

Knowledge-focused Sponsor: Qure Healthcare, LLC 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
Running, but no longer taking on new participants.
Completed This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This completed study looked at whether giving doctors access to genetic tests called FirstStepDx PLUS and NextStepDx PLUS helps them diagnose intellectual disability and developmental delay more accurately and cost-effectively. The study involved 217 pediatric neurologists, developmental pediatricians, and general pediatricians. Doctors were randomly assigned to receive training and test results or not, and their diagnostic decisions were compared using simulated patient cases.

What this could mean

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

Active substance
FirstStepDx PLUS and NextStepDx PLUS genetic tests
What this could lead to
If successful, this study could show that using these genetic tests helps doctors diagnose developmental disorders more accurately and reduce unnecessary healthcare costs.
What could go wrong
This is a small, completed study measuring doctor behavior, not patient outcomes. Results may not apply to all settings or guarantee better patient health.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

217 people

The number who actually took part.

Start date

Aug 2014

Finished

Jan 2015

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

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

Ages

Up to 99 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: 1. Provide consent to participate in the study 2. Currently practicing board-certified physician in the following specialty areas: 1. Pediatric neurologists 2. Developmental pediatricians 3. General pediatricians 3. Have practiced as a board-certified physician for greater than 2 but less than 30 years. 4. English-speaking 5. Community / non-academic based practice setting 6. ≥30 pediatric patients under care annually 7. Access to the internet Exclusion Criteria: 1. Not board certified in their respective area of care 2. Academic-based practice 3. Have previously used FirstStepDx PLUS and/or NextStepDx PLUS in their care delivery 4. Have practiced as a board-certified physician for less than 2 or greater than 30 years. 5. Follow \<30 pediatric patients annually 6. Non-English speaking 7. Unable to access the internet

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Conditions

The condition(s) this trial relates to.

intellectual disability learning disability

As listed by the trial registrant

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

Developmental delay Intellectual disability

Contacts and locations

Locations

  • QURE Healthcare

    San Rafael, California, 94901, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.