Congenital Central Hypoventilation SyndromeNCT06554275
CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)
An observational study of Congenital Central Hypoventilation Syndrome, run by Ann & Robert H Lurie Children's Hospital of Chicago at 1 site in United States.
Trial 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 Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Central Hypoventilation Syndrome
- How many people
- 125 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Sep 2024to 31 Aug 2028
- How long will I take part?
- 15 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Any individual with a confirmed CCHS diagnosis treated clinically at any of the participating sites.
Who may be able to join
- Participants with a confirmed CCHS diagnosis (confirmed alveolar hypoventilation and PHOX2B mutation testing results), of all ages and genders, who are followed clinically.
Who cannot join
- An unconfirmed diagnosis of CCHS or unconfirmed PHOX2B mutation or not followed clinically
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Ann & Robert H Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Casey M Rand, MSDS, 312-227-3300, Crand@luriechildrens.org
Erin Lonergan, MS, 312-227-3300, Ersmith@luriechildrens.org
About this study
Official title: CCHS SHARE: A Multi-center Longitudinal Natural History Study
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
Read the 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.
- Keywords
- Natural History, Rare Disease
- Medical subject headings
- Congenital central hypoventilation syndrome, Rare Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient Quality of Life
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)
Measured: Up to every 14 months
Caregiver Burden
Caregiver burden will be assessed using the Zarit Burden Interview
Measured: Up to every 14 months
Patient and Caregiver Sleep
Patient and caregiver sleep will be assessed using PROMIS Sleep Disturbance and Sleep-Related Impairment short forms
Measured: Up to every 14 months
Autonomic Symptom Profile
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.
Measured: Up to every 14 months
Characterize CCHS from a clinical perspective using standardized common data elements (CDEs) in the clinical setting.
CDEs will include key data points from standard of care assessments of respiratory and cardiovascular function, sleep, exercise capacity, neurocognition, and blood labs.
Measured: Up to every 14 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Aug 2024
- Study start1 Sep 2024
- Primary completion1 Jun 2028 (estimated)
- Study completion31 Aug 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Central Hypoventilation SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 125 participants (estimated)
- Target duration
- 15 Years
Sponsor and investigators
- Lead sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
- Sponsor type
- University, hospital or other
- Collaborators
- Groupe Hospitalier Pitie-Salpetriere, Great Ormond Street Hospital for Children NHS Foundation Trust, Hopital Universitaire Robert-Debre
- Responsible party
- Sponsor
- Investigators
- Debra E Weese-Mayer, MD, Principal investigator, Ann & Robert H Lurie Children's Hospital of ChicagoMaxime Patout, MD, Principal investigator, Groupe Hospitalier Pitie-SalpetriereMartin Samuels, MD, Principal investigator, Great Ormond Street Hospital-London (GOSH)Christophe Delclaux, MD, Principal investigator, Hopital Universitaire Robert-Debre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06554275
- Sponsor's protocol ID
- 2024-7201
- Other IDs
- 1R01FD008217-01
- Status last verified
- Jul 2025
- First submitted
- 9 Aug 2024
- Last updated
- 16 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- CCHS SHARE: A Multi-center Longitudinal Natural History Study
- ClinicalTrials.gov ID
- NCT06554275
- Acronym / sponsor ID
- 2024-7201
- Keywords
- Natural History, Rare Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 125 participants (estimated)
- Lead sponsor
- Ann & Robert H Lurie Children's Hospital of ChicagoUniversity, hospital or other
- Collaborators
- Groupe Hospitalier Pitie-Salpetriere, Great Ormond Street Hospital for Children NHS Foundation Trust, Hopital Universitaire Robert-Debre
- Study start
- 1 Sep 2024 (actual)
- Primary completion
- 1 Jun 2028 (estimated)
- Study completion
- 31 Aug 2028 (estimated)
- First posted
- 15 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 15 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Any individual with a confirmed CCHS diagnosis treated clinically at any of the participating sites.
Key inclusion criteria (1 listed)
- Participants with a confirmed CCHS diagnosis (confirmed alveolar hypoventilation and PHOX2B mutation testing results), of all ages and genders, who are followed clinically.
Key exclusion criteria (1 listed)
- An unconfirmed diagnosis of CCHS or unconfirmed PHOX2B mutation or not followed clinically
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Patient Quality of Life
Time frame: 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
Time frame: Up to every 14 months
Caregiver burden will be assessed using the Zarit Burden Interview
Patient and Caregiver Sleep
Time frame: 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
Time frame: 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.
Time frame: 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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jul 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Debra E Weese-Mayer, MD principal investigator
Ann & Robert H Lurie Children's Hospital of Chicago
Maxime Patout, MD principal investigator
Groupe Hospitalier Pitie-Salpetriere
Martin Samuels, MD principal investigator
Great Ormond Street Hospital-London (GOSH)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Central Hypoventilation Syndrome, run by Ann & Robert H Lurie Children's Hospital of Chicago at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 16 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Casey Rand, MSDS (312-227-3300, Crand@luriechildrens.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patient Quality of Life (time frame: Up to every 14 months). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jul 2025.