Down syndrome

This large phase 3 study tests whether adding the drug blinatumomab to standard chemotherapy can improve outcomes for children and young adults with newly diagnosed B-cell acute lymphoblastic leukemia or lymphoma, including those with Down syndrome. The trial enrolls over 6,700 p…

This study tests whether core stability exercises or breathing muscle training can improve bone density in children with Down syndrome, who often have lower bone mass. Sixty children aged 10 to 13 will be split into three groups: one doing standard physical therapy, one adding co…

This study is testing a chemotherapy plan specially designed for children with Down syndrome who have a new diagnosis of acute lymphoblastic leukemia (ALL). The treatment uses lower doses of certain drugs to reduce side effects while still fighting the cancer. About 60 children a…

This Phase 2 trial tests three commonly used drugs—lorazepam, IVIG, and tofacitinib—in 66 people aged 8 to 30 with Down Syndrome Regression Disorder (DSRD). DSRD causes sudden severe symptoms like loss of speech, movement, and daily living skills. The study aims to see if these d…

This study tests whether combining a gentle brain-stimulation technique (tDCS) with virtual-reality exercises can improve movement, balance, and thinking skills in children with Down syndrome. Thirty kids aged 6 to 12 will either receive this new combo or standard physical therap…

This study follows children with hypotonia (low muscle tone) who have obstructive sleep apnea. They use a flexible silicone nasal tube called ssNPA at night to keep the airway open. Researchers will check how well it works and if children can tolerate it over a year.

This study tests a device that stimulates a nerve in the neck to treat sleep apnea in 57 teens and young adults (ages 10-21) with Down syndrome. The goal is to see if better sleep leads to improvements in thinking, attention, and language skills over 12 months. Participants must …

This study explores whether parents can use their smartphones to record short videos of their child sleeping to screen for obstructive sleep apnea (OSA). Children with Down syndrome are at higher risk for OSA, but standard sleep studies can be hard to access. Parents will rate th…

This study looks at whether a simple ultrasound observation of the fetal bladder emptying within 40 minutes can help rule out major chromosome issues like Down syndrome. Researchers will monitor 270 pregnant women between 11-14 weeks. If the bladder empties quickly and is very sm…

This study tests whether playing an immersive virtual reality exergame (Beat Saber) for 12 weeks can improve physical fitness, cognitive skills, and quality of life in 20 people with Down syndrome. Participants will do two supervised sessions per week. The goal is to see if gamif…

This study tests a combination of two medicines (atomoxetine and oxybutynin) given at bedtime for 6 months to children aged 6-17 with Down syndrome and obstructive sleep apnea. The goal is to see if the treatment improves sleep quality and thinking skills. About 36 children will …

This study looks at whether a specially designed group resistance training program (called RESID) is safe, enjoyable, and helpful for adults with Down syndrome aged 20 to 45. The program includes exercises like lifting weights or using resistance bands. Researchers want to see if…

This study looks at whether a set of thinking and memory tests can detect changes caused by a stimulant medication in children aged 6 to 17 who have both intellectual disability and ADHD. About 68 participants will receive either the medication or a placebo, then switch after a b…

This study follows up on a previous trial of the drug AEF0217 in people with Down syndrome. Researchers are asking participants and their caregivers to share their impressions of the treatment through a simple questionnaire. The goal is to understand what changes, if any, people …

This study observes heart function in 216 newborns born at 35 weeks or later. Researchers will use ultrasound to measure how the heart relaxes and fills with blood, creating normal reference values. They will also check if factors like mother's health or birth conditions affect h…

This study aims to find out how often children with Down syndrome have neck spine problems, what symptoms they show, and what X-rays reveal. Researchers will study 50 children aged 2 to 18 at Sohag University Hospital. The goal is to better understand and detect these issues earl…

This study aims to create a computer model that can predict how airway surgery will affect obstructive sleep apnea (OSA) in children with Down syndrome. Researchers will measure airway resistance during a sleep MRI to gather data for the model. The goal is to help doctors choose …

This study checks whether sleep questionnaires can reliably detect obstructive sleep apnea (OSA) in children with Down syndrome, who are at higher risk for the condition. Researchers will compare questionnaire results with overnight sleep studies (the gold standard) in about 81 c…

This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.