Biomarker study in adult CCHS patients
Part of Blood & lymphatic, Brain & nervous system, Genetic & congenital, Kidney & urinary clinical trials.
This trial is looking at blood and urine samples from adults with Congenital Central Hypoventilation Syndrome (CCHS) who use a breathing machine at night. The goal is to find biological markers (biomarkers) that could help better understand the condition and guide future treatments.
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 Congenital Central Hypoventilation Syndrome (CCHS) and have a specific genetic change called a polyA expansion in the PHOX2B gene.
- You use a breathing machine (ventilator) at night.
- You are not pregnant or breastfeeding.
- You have not had any other major medical problems (like diabetes, cancer, lung disease, or a sleep disorder) in the past year.
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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