Chromosomal disorder

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 study aimed to see if the drug clomiphene citrate could help men with a condition called non-obstructive azoospermia, where the body produces little to no sperm. The plan was to give the drug or a placebo for nine months, then check if sperm could be found in the semen or th…

This study follows about 200 people with Prader-Willi syndrome who are taking or starting VYKAT XR. Researchers will track side effects and how the drug affects their health over time. The goal is to gather more safety information, not to test if the drug cures the condition.

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 study tests two treatments—isotretinoin (an acne medication) and hCG (a hormone)—to see if they can help men with low or no sperm count produce moving sperm. About 100 men aged 19 to 50 will take one of the drugs for three months. The goal is to find new options for male inf…

This phase 3 trial is testing the safety of pitolisant in 150 people with Prader-Willi syndrome who have already taken the drug in a previous study. Participants will receive pitolisant tablets and be monitored for side effects. The goal is to see if pitolisant is safe for long-t…

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 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 a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This phase 2 trial tests setmelanotide (Imcivree), a daily injection, in 18 people aged 6 to 65 with Prader-Willi syndrome who have obesity. The study will check if the drug is safe and helps reduce body weight and hunger over 52 weeks.

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 compares a new microfluidic device, SwimCount Harvester, to standard sperm preparation methods in couples undergoing IVF with genetic testing (PGT-A). About 1,600 couples will be randomly assigned to one of the two methods. The goal is to see if the device leads to mor…

This study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…

This study tests the long-term safety of a nasal spray called carbetocin for people with Prader-Willi syndrome who experience severe, constant hunger (hyperphagia). About 160 participants who completed a previous study will receive the spray three times daily. The goal is to see …

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 offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

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 phase 3 study tests a device that gently stimulates the vagus nerve through the skin (tVNS) to see if it can safely reduce temper outbursts in people with Prader-Willi syndrome. About 102 participants aged 10 to 40 will use either continuous or intermittent stimulation. The …

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 Phase 3 trial tests a nasal spray called carbetocin to reduce the intense, constant hunger (hyperphagia) in people with Prader-Willi syndrome. The study involves 170 participants aged 5 to 30 and lasts 12 weeks. Caregivers will rate changes in hunger-related behaviors using …

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 nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…

This study tracks 80 patients with brain tumors (metastases or meningiomas) who receive stereotactic radiosurgery. Researchers use memory tests and quality-of-life questionnaires before treatment and every 3 months for a year to see if and how brain function changes. By comparing…

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 watches embryos grow using time-lapse cameras and compares their development to genetic test results. Researchers hope to find visual clues that indicate a healthy embryo. 2000 IVF patients are taking part. If a link is found, it could lead to a less invasive way to ch…

This study follows 300 fetuses and children with sex chromosome disorders to track their growth, organ development, and overall health. Researchers will also look at genetic and gut microbiome factors. The goal is to better understand how these conditions affect children over tim…

This study looks at fetuses with sex chromosome disorders (like extra or missing X or Y chromosomes) that were either miscarried or electively aborted. Researchers will analyze the placenta and fetal tissues to see how the chromosome changes affect gene activity and development. …

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…

This pilot study tests whether a short video about prenatal genetics helps pregnant patients feel less conflicted when deciding about genetic testing. About 140 participants will either watch the video or receive standard care, then complete surveys. The goal is to see if the vid…

This study will follow 300 men with Klinefelter syndrome (an extra X chromosome) who are treated at a Danish hospital. Researchers will collect medical records, scans, and blood samples to map how the condition affects growth, hormones, fertility, heart health, and mental well-be…

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.