CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Congenital Central Hypoventilation Syndrome. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
CCHS SHARE: A Multi-center Longitudinal Natural History Study
Overview
The purpose of this study is to capture longitudinal natural history data in Congenital Central Hypoventilation Syndrome (CCHS). This will include capturing standardized clinical data from standard of care assessments at several CCHS referral centers. Funding source-FDA OOPD
Detailed description
The natural history of a disease is how a disease progresses over time and impacts the lives of patients and their families. In Congenital Central Hypoventilation Syndrome (CCHS), as in all rare diseases, collecting enough information to understand disease natural history is challenging. Knowledge and data sharing is a key to overcoming this challenge. Investigators at Lurie Children's are collaborating with teams at other CCHS medical and research centers and patient advocacy groups to build a shared resource called the CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE). CCHS SHARE will advance knowledge of CCHS natural history and guide future research studies and clinical trials. The purpose of this study is to collect and store CCHS natural history data over the course of many years in CCHS SHARE. Collected information will include patient and family self-reports surrounding their health and its impact on daily life, information collected during standard clinical care (medical records), family history, and other related information from patients. Information in CCHS SHARE will be used for medical research to better understand CCHS and to develop new treatments.
Primary outcome measures
- Patient Quality of Life [Time frame: Up to every 14 months]
- Caregiver Burden [Time frame: Up to every 14 months]
- Patient and Caregiver Sleep [Time frame: Up to every 14 months]
- Autonomic Symptom Profile [Time frame: Up to every 14 months]
- Characterize CCHS from a clinical perspective using standardized common data elements (CDEs) in the clinical setting. [Time frame: Up to every 14 months]
Eligibility criteria
Inclusion criteria
Participants with a confirmed CCHS diagnosis (confirmed alveolar hypoventilation and PHOX2B mutation testing results), of all ages and genders, who are followed clinically.
Exclusion criteria
An unconfirmed diagnosis of CCHS or unconfirmed PHOX2B mutation or not followed clinically
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Ann & Robert H Lurie Children's Hospital of Chicago — Chicago
Identifiers
NCT: NCT06554275 · 2024-7201 · 1R01FD008217-01