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Can a global patient registry unlock the secrets of a rare breathing disorder?

NCT ID NCT03088020

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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

Researchers are building an international registry to collect health information from people with congenital central hypoventilation syndrome (CCHS), a rare condition that affects breathing control. The study asks patients with a confirmed PHOX2B gene mutation to fill out surveys about their medical history and well-being. By tracking these details over time, the team hopes to understand how the disease changes with age and how different mutations affect symptoms. This knowledge could help doctors worldwide provide better care and prepare for future treatment trials.

What this could mean

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

What this could lead to
If this registry gathers enough detailed health data, it could help doctors anticipate the needs of people with CCHS as they age and guide more precise care worldwide.
What could go wrong
This is an observational registry, not a treatment trial, so it will not directly test any therapy. Participation is voluntary and relies on accurate self-reported information, which may limit how broadly the findings apply.

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

Jun 2013

Expected to finish

Dec 2032

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

CCHS patients with confirmed PHOX2B mutations

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: * Individuals with PHOX2B mutation-confirmed CCHS. Exclusion Criteria: * Individuals without PHOX2B mutation-confirmed CCHS.

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Conditions

The condition(s) this trial relates to.

central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Congenital central hypoventilation syndrome gangliocytoma ganglioneuroblastoma Hirschsprung disease neuroblastoma

As listed by the trial registrant

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

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

    1 site. 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 and the Stanley Manne Children's Research Institute

    RECRUITING

    Chicago, Illinois, 60611, United States

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