Syndrome caused by partial chromosomal deletion

This study tested a drug called clomastine fumarate in 28 children aged 3-12 with Williams syndrome, a genetic condition that causes developmental delays. The goal was to see if the drug could improve thinking, movement, and social skills by repairing brain myelin. The study used…

This study tested a combination of pomalidomide and dexamethasone in 63 patients with multiple myeloma that had returned or stopped responding to treatment, and who had specific high-risk genetic changes. The goal was to see how well the drugs controlled the disease and what side…

This phase II study tested a combination of three drugs—ibrutinib, fludarabine, and pembrolizumab—in 15 people with high-risk or relapsed/refractory chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). The goal was to see if the combo could produce a complete r…

This study tested a drug called acalabrutinib in 48 adults with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) who had a specific high-risk genetic change (deletion 17p). Some participants had already tried other treatments, while others were newly diagnos…

This phase II trial tested two drugs—sirolimus and azacitidine—in 57 people with high-risk myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) that had come back or didn't respond to standard treatment. The goal was to see if the combination could shrink or control the…

This study tested whether minoxidil, a blood pressure medicine, can improve blood vessel health in children with Williams-Beuren syndrome. The condition causes weak blood vessels due to a missing gene. 21 children took minoxidil or a placebo for 12 months, and researchers measure…

This study tested a gel called ZYN002, applied to the skin, in 20 children and teens (ages 4-17) with 22q11.2 deletion syndrome. The main goal was to see if the gel is safe and tolerable over 38 weeks. Researchers also looked at whether it could improve behavior and other symptom…

This study looked at how stretchy the skin and blood vessels are in people with Williams syndrome, a genetic condition that can cause heart problems. Researchers measured skin and pulse speed in 43 participants aged 5 to 70. The goal was to learn how these tissues change over tim…

This study used PET scans to measure blood flow in the frontal lobe while participants performed thinking tasks. It included healthy volunteers and people with schizophrenia or Parkinson's disease. The goal was to understand how the frontal lobe works during cognitive activities …

This study looked at how blood vessel stiffness affects organs like the heart, brain, kidneys, and gut in people with Williams Syndrome (WS) or supravalvular aortic stenosis (SVAS). Researchers compared 159 participants (ages 3–85) with these conditions to healthy volunteers over…

This study used advanced brain imaging (MRI and MEG) to look for differences in brain structure, chemistry, and activity between people with schizophrenia and healthy volunteers. Over 3,200 adults took part. The goal was to better understand the brain changes linked to schizophre…

This study collected DNA, tissue, and medical history from 305 people with Williams syndrome or supravalvar aortic stenosis (SVAS), as well as their family members and healthy volunteers. The goal was to create a resource for future research to understand why symptoms vary so muc…

This completed study surveyed 390 physiotherapy students in Turkey to see how their confidence in disaster response, psychological preparedness, and readiness to work with other healthcare professionals are related. Participants filled out online questionnaires during their regul…

This study followed 60 heart transplant patients for one year to see if levels of a harmless virus called TTV in the blood are linked to infections or organ rejection. Researchers took monthly blood samples alongside routine care. The goal is to find a new way to monitor transpla…

This study looked at whether a blood test measuring certain hormones (Inhibin B and FSH) can predict the type of testicular damage in men with a condition called non-obstructive azoospermia, where no sperm are found in the semen. Researchers analyzed data from 73 men who had a su…

This study tested a new parent questionnaire called ORALQUEST to assess feeding and eating disorders in children aged 9 months to 6 years. Researchers included 338 children with chronic conditions like heart defects or autism, as well as those with picky eating. The goal was to s…

This study measured how children with and without autism look at faces, body movements, and objects using eye-tracking technology. Researchers wanted to see if visual patterns could help understand social differences in autism. 150 children took part, including those with autism …

This completed study followed 477 women in Denmark who had a planned cesarean delivery. Researchers used text-message surveys to track pain levels, medication use, and how pain affected daily life over several months. The goal was to better understand how common persistent pain i…