Autosomal anomaly

This study compares personalized surgery guided by a special camera during sleep (DISE) to standard tonsil and adenoid removal for treating obstructive sleep apnea in 303 children with Down syndrome, ages 2 to 17. Sleep apnea is very common in these children and standard surgery …

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 matching sleep apnea treatment to the specific cause in each person with Down syndrome works better than a one-size-fits-all approach. 200 children and adults will receive either a combination of two drugs (ato-oxy) or oxygen therapy based on their indivi…

This study tests whether tofacitinib, a drug used for arthritis, can improve thinking skills and immune function in people with Down syndrome aged 6 to 22. Half of the 92 participants will receive the drug for 6 months, and the other half a placebo. Researchers will measure chang…

This phase 2 trial is testing whether adding nivolumab to blinatumomab helps children and young adults (ages 1 to 30) with relapsed B-cell acute lymphoblastic leukemia (B-ALL), including those with Down syndrome. Blinatumomab helps the immune system find and kill cancer cells, wh…

This trial tests whether adding sensory integration therapy to a standard physical therapy program can improve balance and gross motor function in children with Down syndrome. Forty children aged 3 to 5 will be split into two groups: one receiving only physical therapy, and the o…

This study tests whether adding hands-on cooking classes to a standard weight loss program helps young adults (18-35) with mild-to-moderate intellectual disabilities lose more weight and keep it off. Over 24 months, 114 participants will either follow a healthy eating plan with c…

This study tests a new drug, rocbrutinib, against another drug, pirtobrutinib, in people with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) whose cancer has returned or stopped responding to treatment. All participants have already tried a type of BTK inh…

This early-stage trial tests a new drug called EDK060 in 28 adults with Charcot-Marie-Tooth type 1A, a genetic nerve disorder. Participants receive a single dose of EDK060 or a placebo to check safety and how the drug moves through the body. The goal is to see if EDK060 is safe e…

This study tests an experimental vaccine called ACI-24.060 in people with early Alzheimer's and non-demented adults with Down syndrome. The vaccine is designed to help the immune system clear amyloid plaques from the brain, which are linked to Alzheimer's. Researchers will check …

This early-phase trial tests a stem cell product called EN001 in 27 adults with Charcot-Marie-Tooth disease type 1A, a genetic nerve disorder that causes muscle weakness. The study has two parts: first, an open-label phase to check safety and find the right dose; second, a placeb…

This study looks at thinking and mental health issues in people with Velocardiofacial, Williams, and Fragile X syndromes. Researchers will test how well medications like methylphenidate, fluoxetine, and risperidone improve these symptoms. The goal is to better understand and trea…

This study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

This study tests a daily pill called abrocitinib for people with Down syndrome who have eczema or a type of hair loss. About 56 participants will take the drug for up to 60 weeks to see if it safely controls their skin or scalp condition. The goal is to manage symptoms, not cure …

This Phase 3 trial tests a treatment called corneal crosslinking (CXL) for people with Down syndrome who have keratoconus, a condition where the cornea thins and bulges, blurring vision. The procedure uses vitamin B2 eye drops and ultraviolet light to strengthen the cornea. Resea…

This study is testing a specific set of four chemotherapy blocks in children (0-18 years) who have both acute myeloid leukemia (AML) and Down syndrome. The goal is to see if this tailored treatment can improve long-term survival and reduce harsh side effects compared to past appr…

This study tests a new early intervention called HEP (Homeostasis-Enrichment-Plasticity) for infants with Down syndrome, ages 4 to 12 months. The approach is child-centered and family-based, focusing on enriched environments and brain plasticity. Over 12 sessions, researchers wil…

Researchers are collecting blood samples from pregnant women at higher risk of having a baby with a chromosomal condition. The goal is to develop a noninvasive prenatal test that looks at cell-free DNA in the mother's blood to detect Down syndrome. Participants give blood between…

This study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…

This study looks at whether losing weight can help prevent or delay Alzheimer's disease in adults with Down syndrome. About 81 participants without dementia will either follow a reduced-calorie diet with monthly coaching or attend general health education sessions. Over 12 months…

This study tests if the drug levetiracetam can prevent epileptic seizures in 120 adults over 40 with Down syndrome and Alzheimer's disease. Participants will receive either the drug or a placebo for 96 weeks. The goal is to see if the drug can stop seizures and possibly slow brai…

This study tests a special nasal airway device (ssNPA) in 40 children with weak throat muscles and obstructive sleep apnea, including those with Down syndrome. The device is designed to keep the airway open during sleep without needing surgery. Researchers will measure how well i…

This trial tests whether adding focal tendon vibration to a two-week intensive rehabilitation program can improve balance in adults with Charcot-Marie-Tooth disease type 1A (CMT1A). CMT1A causes progressive muscle weakness and poor balance, often leading to falls. Participants wi…

This trial tests whether a gentle electrical current applied to the brain, called transcranial direct current stimulation (tDCS), can boost language skills in adolescents and young adults with Down syndrome when paired with speech therapy. Thirty-six participants aged 12 to 21 wi…

This study is testing whether glasses prescriptions made by a computer analyzing detailed eye images can give better vision for children with Down syndrome than standard prescriptions from a routine eye exam. The study will enroll 24 children aged 5 to 12 with Down syndrome. Each…

This study tests whether a smartphone app called HippoCamera can help people with Down syndrome remember specific details from their daily lives. Participants record and replay events using the app, which uses an algorithm to select which memories to revisit. The goal is to see i…

This study compares three methods to reduce pain during corticosteroid injections for arthritis, tendinopathy, or nerve compression in the hand, wrist, or elbow: no anesthesia, a vibrating device, or a cooling spray. Each participant will receive two of the three methods to see w…

This study tests whether a non-invasive brain stimulation technique called tDCS can help adults with Down syndrome who have depression with catatonia (a state of being unresponsive or stuck). 62 participants will receive either real or fake (sham) tDCS for 15 sessions over 5 days…

This study tests whether two months of drumming lessons can improve self-control and timing skills in children with Down syndrome. Thirty children aged 7 to 15 will take lessons from a professional drummer and complete computer tasks and brain recordings. The goal is to see if rh…

This study tests whether an animal-themed play program can improve kinesthesia (body movement awareness) in children with Down syndrome, ages 6-9. Researchers will measure joint position sense before and after the program. The goal is to see if playful animal activities help thes…

This study tests whether playing a bean bag tossing game on a wedge or a balance board can improve balance and walking in children with Down syndrome. Thirty-six children aged 7-12 will be split into two groups and play the game for 30 minutes, three times a week, for four weeks.…

This study tests a new drug called AEF0217 to see if it can improve daily living skills in adults and older teens with Down Syndrome. About 188 participants will take either the drug or a placebo daily for 24 weeks. Researchers will check changes in behavior, thinking, and qualit…

This study looks at whether the OTAGO exercise program can improve balance, endurance, and motor coordination in children with Down syndrome. Researchers will work with 30 children aged 8 to 14 who have mild to moderate intellectual disability. Over ten months, the children will …

This study tests a mindfulness-based therapy designed to improve sleep in people with Down syndrome (age 12+). The program is adapted with visual aids, shorter meditations, and caregiver support. Researchers will compare it to a brief behavioral therapy in 20 participants, measur…

This study compares two types of exercise—cognitive-motor training (combining thinking tasks with movement) and Pilates—to see which better improves balance in children with Down syndrome. Thirty-two children aged 8 to 13 will be randomly assigned to one of the two groups and tra…

This study looks at whether jumping rope can improve foot posture in children with Down syndrome. Researchers will include 32 children aged 4 to 15 who have flat feet. One group will jump rope and play, while the other group only plays. Foot changes will be measured before and af…

This study tests whether taking creatine and HMB supplements for 8 weeks can improve muscle strength, balance, and body composition in people with Down syndrome. Fifty participants will receive either the supplements or a placebo, along with nutrition education. Researchers will …

This study compares two methods of delivering oxygen during sleep in children aged 5-17 with Down syndrome and moderate to severe obstructive sleep apnea. Ten participants will have two sleep studies—one with continuous oxygen flow and one with pulse flow from a portable concentr…

This study looks at two types of exercise—Cuevas Medak Exercises and Rebound Exercises—to see which one better improves physical fitness in children with Down syndrome. About 22 kids aged 3 to 8 will take part in 12 weeks of supervised sessions. The goal is to find a fun and effe…

This study tests whether using a powerball (a small exercise ball) on a stable surface or on an unstable surface (BOSU ball) can improve upper limb endurance and coordination in children with Down Syndrome. Twenty-eight children aged 6-10 will do 30-minute sessions three times a …

This study tests whether Vojta therapy, a technique that involves gentle stimulation of specific body zones, can improve how children with Down syndrome walk and move. Twenty-eight children aged 2 to 10 will be randomly assigned to receive either Vojta therapy or no extra therapy…

This study aims to better understand trisomy 8 mosaicism, a rare genetic condition where some cells have an extra copy of chromosome 8, and its link to autoinflammatory disease (TRIAD). Researchers will follow affected individuals and their healthy relatives over time, collecting…

Researchers are building a global registry to collect patient-reported surveys, genetic test results, and medical records from people with Charcot-Marie-Tooth disease and related inherited neuropathies. The study is open to children and adults with a confirmed or suspected diagno…

This study aims to understand how the brain develops in children with Williams syndrome or 7q11.23 duplication syndrome, compared to healthy children. Researchers will use MRI scans and cognitive tests to track changes over time. The goal is to learn how these genetic variations …

This study looks at the long-term health of people with Down syndrome who have been treated for acute leukemia. Researchers want to understand what chronic health problems survivors may face and what factors contribute to them. The goal is to create better follow-up care guidelin…

This study is collecting blood and other samples from 5,000 children and young adults (under 21) who are already taking certain medications as part of their regular care. The goal is to understand how these drugs move through and affect children's bodies, so doctors can prescribe…

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 study is testing whether a program delivered remotely (by video or phone) that combines exercise and dementia caregiving support is practical and helpful for older adults with Down syndrome and their caregivers. About 40 participants will take part. The goal is to see if the…

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 pilot study tests whether a body-weight-supported harness used at home can help infants with Down syndrome move around earlier. Delayed crawling and walking are common in Down syndrome, and early mobility may boost learning, communication, and social interaction. Six familie…

This international online study collects medical, behavioral, and developmental information from people with rare genetic changes that are linked to autism and other neurodevelopmental disorders. By partnering with families, researchers aim to build a detailed database to improve…

This natural history study will follow 700 people with Down syndrome and their healthy relatives for up to 15 years. Researchers want to learn how removing part of the thymus during heart surgery affects the immune system over time. Participants will have yearly check-ups, blood …

This study gathers blood and bone marrow samples from 150 adults with myelodysplastic syndrome (MDS), a blood disorder that can turn into acute leukemia. Researchers want to find biological markers that help predict which patients are likely to progress to leukemia. The goal is t…

This study looks at how certain brain cells (cholinergic neurons) change with age in adults with Down syndrome, and how that relates to Alzheimer's disease risk. Researchers will use brain scans and EEGs to measure these changes in 30 adults aged 18-55 who do not have dementia. T…

This study looks at how using very short, simple sentences (like single words or telegraphic speech) affects how young children with Down syndrome process language and learn new words. Researchers will show children pictures and play recordings of different types of sentences to …

This observational study follows up to 2,000 people with Williams syndrome or related chromosome changes, along with their family members. Researchers will track health, development, behavior, and quality of life from childhood through adulthood. They are also building a biobank …

This study looks at blood vessel health in adults with Down syndrome (ages 18-35) compared to adults without Down syndrome. Researchers want to find out if people with Down syndrome have hidden changes in their blood vessels that could raise their risk for heart disease or stroke…

This long-term study will follow up to 1,400 people with Down syndrome of all ages to better understand their health, development, and daily experiences. Participants and their caregivers will answer questions, share medical records, and may provide blood or saliva samples. Some …

This observational study aims to find biological markers (biomarkers) for RAI1-related disorders, including Smith-Magenis and Potocki-Lupski syndromes. Researchers will study 90 participants through clinical exams, blood tests, optional skin biopsies, and sleep studies. The goal …

This study aims to learn more about the medical and behavioral effects of two rare genetic conditions: 3q29 deletion and 3q29 duplication syndromes. Researchers will collect health and behavior data from 800 participants, including those with the syndromes and healthy siblings. T…

This study enrolls adults with Down syndrome ages 25-55 into a ready-to-test group. Researchers will track memory, thinking, and brain changes over time to better understand how Alzheimer's disease develops in this population. The goal is to make future clinical trials faster and…

This study looks at how the autonomic nervous system—which controls heart rate and blood pressure—works in people with Down syndrome. Researchers will measure stress responses using virtual reality, cold water, pain patches, caffeine, and exercise in 200 participants. The goal is…

This study looks at how often people with Charcot-Marie-Tooth disease (CMT) have problems with their autonomic nervous system, which controls things like heart rate and sweating. Researchers will use questionnaires and simple, non-invasive tests to measure these symptoms in 50 ad…

This study looks at medical records of 1000 children with conditions like autism, epilepsy, and Down syndrome to find common biological patterns. Researchers want to understand what causes these disorders and how children respond to treatments. The goal is to improve diagnosis an…

This study aims to find early biological markers (biomarkers) for Charcot-Marie-Tooth disease type 1A (CMT1A), a common inherited nerve disorder. Researchers will analyze blood and nerve samples from 70 people aged 10-30 with CMT1A, along with animal models, to identify signs tha…

This study looks at 30 six-month-old infants with Down syndrome to see if their sucking patterns are linked to the severity of obstructive sleep apnea (OSA). Researchers will measure sucking bursts and compare them to sleep study results. The goal is to find a simple way to scree…

This study explores whether a non-invasive method using light, sound, and vibration can safely change brain activity in adults with Down syndrome. Researchers will measure brain waves and check for side effects during a single 30-60 minute session. The goal is to see if this appr…

This study looks at how a 2-week, personalized therapy program helps children aged 4-12 with conditions like cerebral palsy, autism, or genetic disorders. Kids get about 2.5 hours of tailored therapy each day, focusing on skills like movement, attention, and communication. The go…

This study follows 75 adults with CMT1A and 25 healthy volunteers over five years to track how the disease progresses. Researchers will analyze blood and skin samples to find biomarkers that could make future clinical trials faster and more reliable. The goal is to better underst…

This study looks at how nerves work in people with Charcot-Marie-Tooth disease and other nerve disorders like CIDP. Researchers will use special electrical tests and ultrasound to measure nerve and muscle changes. The goal is to better understand these conditions, not to test a n…

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

This study uses non-invasive eye scans (OCT and OCTA) to look for changes in the retina that might be linked to brain diseases like Alzheimer's, Parkinson's, and multiple sclerosis. Researchers aim to find early markers that could help diagnose or track these conditions. The stud…

This study looks at children with Down Syndrome who have pneumonia to see if there is a link between their immune system and how well they breathe. Researchers will measure immune markers in the blood and breathing rate and oxygen levels. The goal is to better understand these re…

This study looks at how doctors currently screen and treat obstructive sleep apnea in children with Down syndrome at one hospital. By reviewing past records of 30 children, researchers hope to create a standard care plan that can be used across France. The goal is to improve brea…

This study is gathering medical and educational information from up to 4,000 people with chromosome 18 abnormalities and their families. The goal is to better understand these rare conditions and provide better resources and care. Participants must be at least one year old and in…

This study reviews medical records of 200 children with obstructive sleep apnea who had tonsil surgery. Researchers want to find out how often breathing problems happen after surgery, especially in children with obesity, Down syndrome, or other health issues. The goal is to bette…

This study looks at how hearing sensitivity (hyperacusis) might help language skills in children and adults with Williams syndrome. Researchers will use EEG and NIRS brain scans along with questionnaires to compare participants with Williams syndrome, Down syndrome, and typical d…

This study creates a large collection of blood, saliva, urine, and other samples from 2,500 people with and without Down syndrome. The goal is to help researchers better understand Down syndrome and its related medical conditions. Participants must be between 6 months and 89 year…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This study aims to find new genes that cause Charcot-Marie-Tooth disease (CMT) and discover why symptoms differ among people with the same genetic change. Researchers will analyze DNA from up to 1,050 participants to identify genetic modifiers and unknown causes. The goal is to b…