Syndrome caused by partial chromosomal deletion

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 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 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 Stanford study tests whether injecting a man's own platelet-rich plasma (PRP) into his testicles can help produce sperm. Ten men with nonobstructive azoospermia who previously failed sperm retrieval will receive the injection. Three months later, doctors will check for sperm…

This phase 2 trial tests the drug venetoclax (a pill) in 110 people with relapsed or refractory chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). The study includes two groups: those with a specific genetic change (17p deletion) and those who have failed oth…

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 trial tests whether sertraline, a widely used antidepressant, can reduce anxiety in children and teens aged 8 to 17 with neurodevelopmental disorders such as autism, ADHD, Fragile X syndrome, and Tourette syndrome. Participants receive either sertraline or a placebo for seve…

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 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 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 …

22q11.2 deletion syndrome can cause heart defects, facial differences, and learning challenges, but its severity differs widely from person to person. This study analyzes DNA from 1,000 people with the deletion to identify genetic variations that might influence how the disorder …

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 study investigates whether a specific mitochondrial DNA variant (MT-ND1 m.3700G>A) is associated with severe male infertility, specifically conditions where sperm production is absent or extremely low. Researchers analyzed existing medical records and biological samples from…

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 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 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 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 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…