Autosomal anomaly

This early-stage trial tests a supplement called MIB-626 (a form of NMN) in 24 adults with Down syndrome. The goal is to see if it is safe and can raise NAD+ levels, which may help protect against Alzheimer's disease. Participants take the pill or a placebo for 28 days and are mo…

This study tests a drug called mivelsiran in 58 adults with Down syndrome who have early-stage Alzheimer's. Participants receive either the drug or a placebo via injection into the spine every few months for two years. The goal is to see if the drug can reduce brain changes linke…

This study tests whether donanemab, given as an IV infusion every 4 weeks, can safely lower amyloid plaques in the brains of 60 adults aged 35–50 with Down syndrome. Participants receive either donanemab or a placebo for 12 months, followed by a 12-month extension where everyone …

This study tests whether a special pacifier, called CURAPROX, can reduce the severity of obstructive sleep apnea (OSA) in infants with Down syndrome. Fifty infants will be enrolled at one month old, with half using the pacifier and half not. At six months, sleep tests will measur…

This early-stage trial will test whether higher-than-standard doses of memantine, a drug already approved for Alzheimer's, are safe and tolerable in 25 adolescents and young adults with Down syndrome. The study also looks for early signs that the drug might improve memory and thi…

This study tests whether adding mini-trampoline exercises (rebound therapy) to standard chest physical therapy can improve lung function in children with Down syndrome. Forty children aged 9 to 13 will be randomly assigned to either chest therapy alone or chest therapy plus rebou…

This study tests whether 4-aminopyridine, a drug already approved for other nerve conditions, can improve symptoms of carpal tunnel syndrome or delay the need for surgery. Researchers will give 160 adults either the drug or a placebo for 6 weeks and track symptom changes using ha…

This study tests whether a resilience training program can help parents of young children with Down syndrome feel more accepting and less burdened. About 50 parents will be randomly assigned to either the training or usual care. Researchers will measure changes in acceptance, rej…

This study tests whether a natural compound called phenolic complex k110-42 can improve attention and thinking in children with Down syndrome. About 108 children aged 4 to 8 will take the compound and have their cognitive skills measured with standard tests. The goal is to ease s…

This study looks at whether a suspension walker is a practical tool for pre-walking infants with Down syndrome to use at home. Twelve infants aged 10-13 months will try using the walker for 20 minutes a day, 5 days a week over three months. Researchers want to see if families can…

This study will use wearable activity trackers to measure how much people with Charcot-Marie-Tooth disease type 1A (CMT1A) move at home. Researchers want to see if sensor data matches standard clinical tests. The goal is to improve patient follow-up and support future trials of n…

This study will collect blood from 3 children with Williams syndrome and 3 healthy children. Scientists will turn blood cells into stem cells and then into brain cells to study how the brain develops differently in Williams syndrome. The goal is to understand the disease better, …

This study looks at how the brains of children with Williams syndrome and autism differ, focusing on social and thinking skills. Researchers will compare 75 children aged 3-12 from three groups: those with Williams syndrome, those with autism, and typically developing kids. No tr…

This study will follow 15 people aged 5 to 50 with 7q11.23 microduplication syndrome, a rare genetic condition linked to autism and social difficulties. Researchers will track developmental milestones, social skills, and behavior using interviews and questionnaires. The goal is t…

This study looks at how people with Down syndrome and Fragile X syndrome decide who to trust. Researchers will use eye-tracking and behavioral tasks to measure how participants read faces, behaviors, and detect deception. The goal is to understand the brain mechanisms behind trus…

This pilot study looks at fatigue in people with Charcot-Marie-Tooth type 1A (CMT1A), a nerve disorder affecting arms and legs. Researchers will compare 22 patients with 22 healthy volunteers to measure how fatigue affects walking and balance. They use tests like muscle strength …

This study will look at 230 children with Down syndrome and their parents to find out how many have a rare form called translocation Down syndrome. Researchers will use blood tests to check if parents carry a balanced translocation that can be passed down. The goal is to better u…