Assessing neurocognition in patients with congenital central hypoventilation syndrome
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
Ann & Robert H Lurie Children's Hospital of Chicago · NCT03568669
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 |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 3 Years to 85 Years |
| Sex | All |
| Sponsor | Ann & Robert H Lurie Children's Hospital of Chicago (other) |
| Locations | 4 sites (Los Angeles, California and 3 other locations) |
| Trial ID | NCT03568669 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a confirmed PHOX2B mutation diagnosis of CCHS who are proficient in English.
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.
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 performed: While this approach is novel in the context of CCHS, similar studies have successfully utilized cognitive assessment tools in other genetic disorders.
Eligibility criteria
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 this trial is running
Los Angeles, California and 3 other locations
- 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)
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (ENROLLING_BY_INVITATION)
- Seattle Children's Hospital — Seattle, Washington, United States (RECRUITING)
Study contacts
- Study coordinator: Casey Rand, BS
- Email: crand@luriechildrens.org
- Phone: 312-227-3300
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Congenital Central Hypoventilation Syndrome, Congenital Central Hypoventilation, CCHS, CCHS With Hirschsprung Disease, CCHS With Neural Crest Tumor, CCHS With Neuroblastoma, NIH Toolbox, Toolbox