Actively Recruiting
Neurocognitive Outcome as a Metric for Evaluating Therapeutic Intervention and Treatment Mechanisms in Congenital Central Hypoventilation Syndrome Using the NIH Toolbox
Led by Debra Weese-Mayer ยท Updated on 2024-08-09
1000
Participants Needed
4
Research Sites
260 weeks
Total Duration
On this page
Sponsors
D
Debra Weese-Mayer
Lead Sponsor
A
Ann & Robert H Lurie Children's Hospital of Chicago
Collaborating Sponsor
AI-Summary
What this Trial Is About
This research aims to study neurocognitive health in patients with congenital central hypoventilation syndrome (CCHS), a rare genetic disorder affecting autonomic and respiratory regulation that can impact oxygen delivery to the brain. The study evaluates how genetic factors like PHOX2B mutation type and clinical factors such as age at diagnosis and artificial respiratory support affect cognitive function measured by the NIH Toolbox. The goal is to optimize care and improve long-term cognitive outcomes in individuals with CCHS. Participants will complete the NIH Toolbox Cognition Battery, a 45-minute app-based test on an iPad assessing executive function, attention, memory, and language. Additionally, parents or adult participants will fill out a 15-minute electronic questionnaire collecting information about genetics, diagnosis age, ventilation methods, and disease history. Data collection occurs initially during clinical visits or family network meetings and then annually for longitudinal follow-up. Participants will be assessed through cognitive testing and questionnaires to track neurocognitive performance over time. Researchers will analyze the impact of intrinsic genetic and extrinsic respiratory support factors on cognitive outcomes. The study runs through December 2030 for primary outcome measurement and continues through December 2035. This ongoing observation supports better understanding and management of cognitive health in CCHS patients.
CONDITIONS
Brief Title
Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- PHOX2B mutation-confirmed CCHS diagnosis
- Speaks and reads English as a primary language
You will not qualify if you...
- Unsuspected or unconfirmed CCHS
- Does not speak or read English as a primary language as their main language at home or work environment
- Participants without genetic confirmation of CCHS diagnosis or language barriers preventing study participation are excluded
- Individuals unable to complete the NIH Toolbox assessments due to language limitations are excluded
- Participants must not have an unconfirmed diagnosis of CCHS or inability to read English primarily to participate
- Participants unable to provide accurate questionnaire responses due to language barriers are excluded
- Those without PHOX2B mutation confirmation are not eligible for this study
- Individuals without primary English proficiency are excluded from participation
- Unconfirmed or suspected cases of CCHS are not eligible
- Non-English primary speakers are excluded from the study
- Participants must have confirmed CCHS diagnosis and English proficiency to be included
- Participants without confirmed diagnosis or English language skills are excluded
- Those who do not primarily speak or read English cannot participate
- Individuals with unconfirmed CCHS are not eligible
- Participants must be able to understand and complete electronic questionnaires and NIH Toolbox testing in English
- Participants lacking English language proficiency are excluded
- Those with unconfirmed diagnosis or language barriers are excluded
- Participants not meeting language or genetic confirmation criteria are excluded
- Unconfirmed CCHS diagnosis excludes participation
- Non-primary English speakers are excluded
- Individuals with suspected but unconfirmed CCHS cannot participate
- Participants unable to complete study assessments due to language are excluded
- Those without genetic confirmation of CCHS are excluded
- English language proficiency is required for participation
- Participants must have a confirmed diagnosis and English proficiency
- Participants without confirmed CCHS diagnosis or who do not speak English primarily are excluded
- Participants unable to complete the NIH Toolbox or questionnaires in English are excluded
- Those with unconfirmed or suspected CCHS diagnosis are excluded
- Non-English speakers are excluded
- Participants without confirmed diagnosis or English language skills are excluded
- Participants must be able to complete all study assessments in English
- Individuals without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Unconfirmed diagnosis or non-English speakers are not eligible
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study tools in English are excluded
- Participants without genetic confirmation of CCHS or English proficiency are excluded
- Participants with unconfirmed diagnosis or language limitations are excluded
- Non-primary English speakers are excluded
- Participants must have confirmed diagnosis and English proficiency
- Individuals with unconfirmed CCHS diagnosis are excluded
- Participants unable to complete cognitive testing or questionnaires in English are excluded
- Participants without confirmed CCHS diagnosis or English skills are excluded
- Participants must be confirmed CCHS cases and English speakers
- Participants unable to complete study assessments in English are excluded
- Participants without genetic confirmation of CCHS are excluded
- Unconfirmed or suspected CCHS cases are excluded
- Participants who do not speak or read English primarily are excluded
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English speakers are excluded
- Participants unable to complete NIH Toolbox assessments and questionnaires in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English primary speakers are excluded
- Participants unable to complete NIH Toolbox testing and questionnaires in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English speakers are excluded
- Participants unable to complete study assessments in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English speakers are excluded
- Participants unable to complete study assessments in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English speakers are excluded
- Participants unable to complete study assessments in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English speakers are excluded
- Participants unable to complete study assessments in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English speakers are excluded
- Participants unable to complete study assessments in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English speakers are excluded
- Participants unable to complete study assessments in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English speakers are excluded
- Participants unable to complete study assessments in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS diagnosis and English proficiency
- Participants unable to complete study assessments in English are excluded
- Participants without confirmed diagnosis or English proficiency are excluded
- Participants with unconfirmed or suspected CCHS are excluded
- Non-English speakers are excluded
- Participants unable to complete study assessments in English are excluded
- Participants without PHOX2B mutation confirmation are excluded
- Participants with unconfirmed diagnosis or language barriers cannot participate
- Participants must have confirmed CCHS diagnosis and English proficiency
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Ongoing from initial participation through annual visits up to December 2030
Participants complete a 45-minute cognitive assessment using the NIH Toolbox on an iPad, and parents or adult participants complete a 15-minute electronic questionnaire providing information about genetic diagnosis, respiratory assistance, and disease history.
Initial assessment and questionnaire at clinical visits or family meetings, followed by annual assessments
Trial Site Locations
Total: 4 locations
1
Children's Hospital Los Angeles
Los Angeles, California, United States, 90027
Actively Recruiting
2
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States, 60611
Actively Recruiting
3
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Enrolling by Invitation
4
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Actively Recruiting
Research Team
C
Casey Rand, BS
E
Erin S Lonergan, BS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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