Autosomal anomaly

This trial investigates whether a long-acting liquid stimulant medication (Quillivant XR) can safely and effectively reduce ADHD symptoms in children with Down syndrome, who are at higher risk for ADHD but often go untreated. The study will compare the medication against a placeb…

This early study tests the safety of TheraSphere PCa, tiny radioactive glass beads injected into the prostate to treat localized prostate cancer. The trial involves 36 men with favorable intermediate-risk cancer and aims to find the maximum safe radiation dose. Researchers will m…

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 trial tests a one-time gene therapy injection for people with Charcot-Marie-Tooth disease type 1A (CMT1A), a genetic nerve disorder that causes progressive muscle weakness. The therapy delivers a gene that produces a protein to support nerve health. Three adults aged 18 to 3…

This study tests a program called PIXI that coaches parents of infants diagnosed with rare neurogenetic disorders (such as Fragile X, Angelman, or Down syndrome) during the first year of life. The program combines education about the disorder, guided parent-child interaction acti…

This study tests a personalized medicine called an antisense oligonucleotide, designed specifically for one person with autosomal dominant leukodystrophy (ADLD), a rare genetic brain disease. The treatment aims to slow or stop the disease by targeting the underlying genetic mutat…

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 study compares a single-stage surgery using implants coated with an antibiotic-loaded hydrogel to the standard two-stage surgery for treating chronic hip prosthesis infections. The single-stage approach aims to remove the infected implant and place a new one in the same oper…

This phase 2 trial tests whether clemastine, a common allergy medication, can improve thinking, motor skills, and social abilities in people with Williams syndrome. The study includes 30 participants aged 6 to 30 and uses a double-blind, placebo-controlled design to measure safet…

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 tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

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 was designed to see if giving a short, mild electrical stimulation to compressed nerves during surgery could speed up recovery of strength and function. It planned to include people with nerve compression in the spine or limbs who were already scheduled for decompressi…

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 aimed to test a focused radiation treatment (HDR brachytherapy) for men whose prostate cancer returned only in the prostate gland after earlier radiation therapy. It planned to enroll adults with biopsy-confirmed recurrence seen on a special PET scan. However, the stud…

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…