Congenital Central Hypoventilation Syndrome
Conditions
Keywords
Natural History, Rare Disease
Brief summary
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.
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital de la Pitié-Salpêtrière
Great Ormond Street Hospital for Children NHS Foundation Trust
Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital universitaire Robert Debré
Ann & Robert H Lurie Children's Hospital of Chicago
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Patient Quality of Life | Up to every 14 months | Patient reported outcome common data elements reflecting core aspects of CCHS will be captured using the Pediatric Quality of Life Inventory (PedsQL) and the 36-item Short Form Health Survey (SF-36) |
| Caregiver Burden | Up to every 14 months | Caregiver burden will be assessed using the Zarit Burden Interview |
| Patient and Caregiver Sleep | Up to every 14 months | Patient and caregiver sleep will be assessed using PROMIS Sleep Disturbance and Sleep-Related Impairment short forms |
| Autonomic Symptom Profile | Up to every 14 months | Validated measures of autonomic function will be captured including data elements from COMPASS-31 and a patient-reported clinical and disease-specific outcomes symptomatology questionnaire relating to CCHS. |
| Characterize CCHS from a clinical perspective using standardized common data elements (CDEs) in the clinical setting. | Up to every 14 months | CDEs will include key data points from standard of care assessments of respiratory and cardiovascular function, sleep, exercise capacity, neurocognition, and blood labs. |
Countries
United States
Contacts
Primary ContactCasey Rand, MSDS
Backup ContactErin Lonergan, MS
Outcome results
None listed