Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

This study is testing a device called ExAblate 4000 that uses focused ultrasound waves to treat non-cancerous brain tumors in children and young adults. The goal is to see if the treatment is safe and can shrink tumors without open surgery. About 20 participants will be enrolled,…

This phase 3 trial compares a once-weekly growth hormone injection (lonapegsomatropin) to a daily one (somatropin) in 186 prepubertal children with growth failure due to Turner syndrome, SHOX deficiency, being small for gestational age, or idiopathic short stature. The goal is to…

This study tests whether adding AGuIX gadolinium-based nanoparticles to standard brain radiation can better control brain metastases that are at high risk of coming back. About 134 adults with certain cancers (like melanoma, lung, breast, or colorectal) that have spread to the br…

This early-stage trial tests an experimental drug called CSTI-500 in 12 people aged 13 to 50 with Prader-Willi syndrome, a genetic condition that causes constant hunger and behavioral issues. The study aims to see if the drug is safe and can reduce excessive eating behaviors. Par…

This study tests a stem cell transplant for people with common variable immunodeficiency (CVID) and other immune disorders. The goal is to replace the faulty immune system with a healthy donor's stem cells. Participants are aged 5 to 40 and will receive a reduced-intensity transp…

This study tests vosoritide, a protein that stimulates bone growth, in 30 children with Noonan syndrome who are not growing well despite growth hormone treatment. The goal is to see if vosoritide can safely increase their growth rate over six months. Participants will receive one…

This study tests whether probiotics and prebiotics can safely help control appetite and weight gain in 60 children with Prader-Willi syndrome, a rare genetic condition that causes severe obesity. Researchers will measure changes in body mass index, body fat, and gut bacteria over…

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 weekly injection called RM-718 in healthy people with obesity and in patients with obesity caused by problems in the MC4R pathway, including hypothalamic obesity and Prader-Willi syndrome. The main goal is to check the drug's safety and how the body processes i…

This study tests tirzepatide, a weight loss medication, in 36 young adults aged 18-26 with obesity from Prader-Willi syndrome, hypothalamic obesity, or general causes. Participants take the drug for 48 weeks to see how much weight they lose and how their health changes. The goal …

This study tests a new way to treat large brain tumors using two different radiation machines. Patients get four daily treatments with a linear accelerator, then a break, followed by one precise Gamma Knife treatment. The goal is to better control tumors while protecting healthy …

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 tests whether showing cartoon video clips and using character voices during a visual field test can help children aged 5-8 stay focused and give more reliable results. Twenty children with certain eye conditions will be tested twice, once with the cartoon intervention …

This study tests a group program to help teens (ages 13-17.5) with Prader-Willi Syndrome and their families learn practical ways to handle irritability, meltdowns, and anxiety. Ten participants will attend weekly 90-minute sessions. The goal is to see if the program improves emot…

This study tests whether bright light therapy can help reduce excessive daytime sleepiness in people with Prader-Willi syndrome. About 50 participants will receive either bright light or a dim placebo light. The goal is to see if the therapy improves alertness, mood, and behavior…

This study tests whether a supplement called MyCondro can help people with knee osteoarthritis move better and feel less joint discomfort. Researchers will give two different doses to 240 adults aged 45 and older who have had knee problems for at least six months. The main goal i…

This Phase 3 trial tests whether pitolisant can reduce excessive daytime sleepiness in people aged 6 and older with Prader-Willi syndrome. About 134 participants will receive either pitolisant or a placebo, and researchers will also look at effects on behavior and appetite. The s…

This study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…

This study tests whether a noninvasive technique called transcranial magnetic stimulation (TMS) can change brain activity related to hunger and fullness in people with Prader-Willi syndrome. Researchers will stimulate a part of the brain called the cerebellum and measure changes …

This study tests whether a gentle brain stimulation technique called tACS, used at home for 5 days a week over 4 weeks, can improve memory and thinking in 40 young people aged 14-25 with 22q11.2 deletion syndrome. The stimulation is personalized based on each participant's MRI an…

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study aims to uncover the genetic causes of a group of eye conditions called MAC (microphthalmia, anophthalmia, and uveal coloboma), which can lead to vision loss or blindness. Researchers will collect DNA samples from 600 people—both those with MAC and their close relatives…

This study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…

This study aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

This research study aims to learn more about children born with small or missing eyes (Microphthalmia, Anophthalmia, and Coloboma, or MAC) and how genetic changes may cause these conditions. Researchers will collect medical histories, saliva, and blood samples, and perform physic…

This study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

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 aims to create a collection of blood and urine samples from 100 people with Noonan syndrome. Researchers will use these samples to study how the disease works and look for factors that predict how it will progress. The study does not test any treatment, but may help gu…

This study looks at cholesterol and blood sugar levels in 200 people with Noonan syndrome and related conditions, aged 2 to 35. Researchers want to see if these levels differ by age, gender, or genetic type. The goal is to improve long-term care by identifying who might be at hig…

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 follows 800 children born with eye malformations like microphthalmia, anophthalmia, aniridia, or anterior segment defects. Researchers will track their vision, brain development, and overall health for up to 10 years to better predict outcomes. No new treatments are be…

This study aims to find genes that cause eye misalignment (strabismus) and related conditions involving the cranial nerves and brainstem. Researchers will analyze DNA from up to 20,000 participants with these disorders. The goal is to better understand the genetic causes, which c…

This study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…

This study creates a registry to collect health information from 200 people with rare forms of primordial dwarfism, such as MOPDII and Meier-Gorlin syndrome. Researchers hope to learn how these conditions change over a person's lifetime and improve future care. Participants provi…

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…