This observational study is looking at how Congenital Central Hypoventilation Syndrome (CCHS), a rare disorder affecting breathing and body functions, impacts brain function. Researchers want to understand factors that affect thinking, memory, and attention in people with CCHS, especially since low oxygen and high carbon dioxide levels can occur. You might be able to join if you are between 3 and 85 years old, have a confirmed CCHS diagnosis due to a PHOX2B gene mutation, and speak and read English. The study uses an app-based test called the NIH Toolbox Cognition Battery to measure brain function. The goal is to improve how CCHS is managed and help patients have better long-term brain health.

Study design

This is an observational study planning to enroll 1000 participants. It is not a drug trial.

What's involved

You would complete an app-based cognitive assessment using the NIH Toolbox Cognition Battery, which takes about 45 minutes on an iPad.

Compensation

Not stated in the trial record.

Follow-up

Neurocognitive outcomes will be measured between January 2016 and December 2030.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.