Studying blood and urine clues in congenital central hypoventilation syndrome
Part of Genetic & congenital, Lungs & breathing clinical trials.
This study is looking for biomarkers (biological clues) in blood and urine that could help doctors understand CCHS better and improve care. It involves giving a small sample of blood and urine, and is open to adults with CCHS who use a ventilator at night.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are 18 years old or older
- You have been diagnosed with CCHS (a rare condition that affects breathing, especially during sleep)
- You have the PHOX2B gene mutation (a genetic change linked to CCHS)
- You use a ventilator at night to help you breathe
- You are under care at the CCHS center at Pitié-Salpêtrière Hospital in Paris
- You have not had other major illnesses or sleep disorders in the past year (like diabetes, cancer, or insomnia)
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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This study creates a secure health information hub for people with Congenital Central Hypoventilation Syndrome (CCHS) to help researchers better understand the condition and find new ways to treat it. Being part of this hub may help advance future studies and care options for CCHS.
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