Assessing neurocognition in patients with congenital central hypoventilation syndrome
Official title: Neurocognitive Outcome as a Metric for Evaluating Therapeutic Intervention and Treatment Mechanisms in Congenital Central Hypoventilation Syndrome (CCHS): A Multi-Site Study Using The NIH Toolbox
Run by Ann & Robert H Lurie Children's Hospital of Chicago · NCT03568669 · Data updated 2026-11-12
This study is trying to see how a special set of tests can help understand the thinking and memory skills of people with congenital central hypoventilation syndrome and what factors might affect their cognitive health.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 3 Years to 85 Years |
| Sex | All |
| Enrollment | 1000 (estimated) |
| Sponsor | Ann & Robert H Lurie Children's Hospital of Chicago Academic / other |
| Locations | 4 sites (Los Angeles, California and 3 other locations) |
| Status | Recruiting |
| Started | January 2016 |
| Main results expected | December 2030 |
| Study ends | December 2035 |
| Registry record updated | September 3, 2026 |
| Trial ID | NCT03568669 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals with a confirmed PHOX2B mutation diagnosis of CCHS who are proficient in English.
✕Probably not a fit
Patients without a confirmed diagnosis of CCHS or those who do not speak or read English will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study focuses on congenital central hypoventilation syndrome (CCHS), a rare genetic disorder affecting respiratory regulation and oxygen delivery to the brain. The research aims to implement the NIH Toolbox to measure cognitive health in CCHS patients and explore how various intrinsic factors, such as age at diagnosis and specific genetic mutations, influence neurocognitive outcomes. By identifying these factors, the study seeks to optimize clinical management and improve long-term cognitive performance in affected individuals.
Why it matters
Potential benefit: If successful, this study could lead to improved clinical management strategies that enhance cognitive outcomes for patients with CCHS.
How similar studies have gone: While this approach is novel in the context of CCHS, similar studies have successfully utilized cognitive assessment tools in other genetic disorders.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
Children's Hospital Los Angeles
Los Angeles, California, United States Recruiting -
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States Recruiting -
Seattle Children's Hospital
Seattle, Washington, United States Recruiting -
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States Enrolling by invitation
Study contacts
- Study coordinator: Casey Rand, BS
- Email: crand@luriechildrens.org
- Phone: 312-227-3300
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Collecting data on Congenital Central Hypoventilation Syndrome
This study is gathering information about Congenital Central Hypoventilation Syndrome from different hospitals and families to better understand the condition and improve future treatments.
-
International registry for Congenital Central Hypoventilation Syndrome
This study is creating a global registry to collect information about people with Congenital Central Hypoventilation Syndrome to better understand how the condition affects them over time.
-
Locus Coeruleus and PHOX2B Mutations in Ondine Syndrome
Researchers will see if cognitive issues in young people with Ondine Syndrome relate to the severity of their PHOX2B mutation and dysfunction in the locus coeruleus by using EEG, pupil measurements, MRI, cognitive tests, and heart rate data.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.