Endotype-directed treatment for obstructive sleep apnea in people with Down syndrome
Endotype DIrected Treatment for OSA in Down Syndrome
This project will test whether a precision approach—using atomoxetine plus oxybutynin for some people and oxygen for others based on breathing patterns—works better than giving atomoxetine-plus-oxybutynin to everyone with Down syndrome and obstructive sleep apnea.
Quick facts
| Phase | Phase 4 |
|---|---|
| Study type | Interventional |
| Enrollment | 200 (estimated) |
| Ages | 6 Years and up |
| Sex | All |
| Sponsor | University of Arizona Academic / other |
| Locations | 5 sites (Tucson, Arizona and 4 other locations) |
| Trial ID | NCT07280468 on ClinicalTrials.gov |
What this trial studies
Obstructive sleep apnea is very common in people with Down syndrome and current treatments (surgery, PAP) often have limited benefit or poor adherence. This Phase 4 interventional study randomizes participants to two approaches: one group receives atomoxetine-plus-oxybutynin (ato-oxy) universally, while the other group receives endotype-directed therapy that assigns ato-oxy or supplemental oxygen based on individual breathing characteristics. Eligible participants are people with Down syndrome aged 6 years and older with OSA and without key exclusion conditions such as active seizure disorder or untreated hypothyroidism. The trial is conducted at three academic centers and will measure sleep breathing outcomes as well as cognition and quality-of-life measures.
Who should consider this trial
Good fit: Ideal candidates are people with Down syndrome aged 6 years or older who have diagnosed obstructive sleep apnea, are not currently adherent to PAP therapy, and can attend visits at an enrolling study site.
Not a fit: People already adherent to positive airway pressure therapy, or those with exclusionary conditions such as active seizure disorder, untreated hypothyroidism, significant liver disease, certain cardiac clearance issues, or children with 3+ tonsillar hypertrophy may not be eligible or likely to benefit from the interventions tested.
Why it matters
Potential benefit: If successful, the precision approach could increase the chance that medication or oxygen relieves sleep apnea in people with Down syndrome, improving sleep, thinking, and daily functioning while reducing the need for invasive procedures.
How similar studies have performed: Previous smaller trials and early work indicate atomoxetine-plus-oxybutynin can reduce OSA severity and that oxygen benefits some physiological endotypes, but applying a precision endotype-directed approach specifically in Down syndrome is relatively new.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Age 6 years or older 2. Down syndrome diagnosis 3. Any gender or ethnicity 4. Adults without a legally authorized representative must have a caregiver/support person that can co-sign consent and complete study questionnaires. Exclusion Criteria: 1. Currently using and adherent to PAP therapy (\>4 hours per night for 70% of nights in the past 30 days based on device download or parent/caregiver report) 2. MAO inhibitor use 3. Urinary retention 4. Seizure disorder 5. Untreated or inadequately treated hypothyroidism 6. Significant traumatic brain injury 7. Not cleared to participate in the study by their cardiologist for individuals with congenital heart disease requiring follow up with cardiology at least once in the past year 8. History of current, untreated depression 9. History of liver disease (not including metabolic dysfunction-associated steatotic liver disease) 10. 3+ or greater tonsillar hypertrophy (for children only, no restriction for adults)
Where this trial is running
Tucson, Arizona and 4 other locations
- University of Arizona — Tucson, Arizona, United States (Recruiting)
- University of California San Diego — San Diego, California, United States (Not_yet_recruiting)
- University of Miami — Miami, Florida, United States (Not_yet_recruiting)
- Advocate Medical Group Adult Down Syndrome Center — Park Ridge, Illinois, United States (Not_yet_recruiting)
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Daniel Combs, MD — University of Arizona
- Study coordinator: Natalie Provencio-Dean
- Email: nataliep@arizona.edu
- Phone: 520-403-6165
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.