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Can a 45-Minute iPad test unlock how CCHS affects the brain?

NCT ID NCT03568669

Knowledge-focused Sponsor: Ilya Khaytin Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Sep 03, 2026 · Last updated Sep 04, 2026 · Updated 1 time

Summary

This study measures thinking, memory, and attention in people with congenital central hypoventilation syndrome (CCHS), a rare condition that can reduce oxygen to the brain. Participants complete a 45-minute app-based cognitive assessment on an iPad, and parents or adult participants fill out a short questionnaire. Researchers will look at how factors like age at diagnosis, genetic mutation type, and history of breathing support relate to cognitive scores. The goal is to better understand and eventually improve long-term neurocognitive outcomes in CCHS.

What this could mean

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

Active substance
NIH Toolbox Cognition Battery, an app-based cognitive assessment
What this could lead to
If this study succeeds, it could identify which factors most affect thinking and memory in people with CCHS, guiding better clinical care and long-term cognitive support.
What could go wrong
This is an observational study, not a treatment trial, so it will not test a therapy. Results depend on participants completing assessments and may not apply to all people with CCHS.

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

Jan 2016

Expected to finish

Dec 2035

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

PHOX2B mutation-confirmed CCHS patients between 3-85 years of age, who speak and read English as a primary language.

Ages

3 to 85 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: * PHOX2B mutation-confirmed CCHS diagnosis * Speaks and reads English as a primary language Exclusion Criteria: * Unsuspected or unconfirmed CCHS * Does not speak or read English as a primary language

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Conditions

The condition(s) this trial relates to.

central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease central sleep apnea syndrome Congenital central hypoventilation syndrome

As listed by the trial registrant

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

CCHS CCHS with Hirschsprung disease CCHS with neural crest tumor CCHS with neuroblastoma Congenital central hypoventilation Congenital central hypoventilation syndrome

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    4 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Ann & Robert H. Lurie Children's Hospital of Chicago

    RECRUITING

    Chicago, Illinois, 60611, United States

  • Children's Hospital Los Angeles

    RECRUITING

    Los Angeles, California, 90027, United States

  • Children's Hospital of Philadelphia

    ENROLLING_BY_INVITATION

    Philadelphia, Pennsylvania, 19104, United States

  • Seattle Children's Hospital

    RECRUITING

    Seattle, Washington, 98105, United States

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