Clinical trial NCT06554275: CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)
Official title: CCHS SHARE: A Multi-center Longitudinal Natural History Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Congenital Central Hypoventilation Syndrome
Keywords: Natural History
Rare Disease
Lead sponsor: Ann & Robert H Lurie Children's Hospital of Chicago
Sponsor class: OTHER
Collaborators: name: Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital de la Pitié-Salpêtrière
name: Great Ormond Street Hospital for Children NHS Foundation Trust
name: Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital universitaire Robert Debré
First posted: 2024-08-15
Enrollment: 175
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Any individual with a confirmed CCHS diagnosis treated clinically at any of the participating sites.

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.

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

Primary outcomes:
measure: Patient Quality of Life
timeFrame: Up to every 14 months
measure: Caregiver Burden
timeFrame: Up to every 14 months
measure: Patient and Caregiver Sleep
timeFrame: Up to every 14 months
measure: Autonomic Symptom Profile
timeFrame: Up to every 14 months
measure: Characterize CCHS from a clinical perspective using standardized common data elements (CDEs) in the clinical setting.
timeFrame: Up to every 14 months
Secondary outcomes:
Other outcomes:
Locations:
city: Chicago
country: United States
facility: Ann & Robert H Lurie Children's Hospital of Chicago
state: Illinois
Study officials:
affiliation: Ann & Robert H Lurie Children's Hospital of Chicago
name: Debra E Weese-Mayer, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital de la Pitié-Salpêtrière
name: Maxime Patout, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Great Ormond Street Hospital-London (GOSH)
name: Martin Samuels, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital universitaire Robert Debré
name: Christophe Delclaux, MD
role: PRINCIPAL_INVESTIGATOR
References: