Syndrome caused by partial chromosomal deletion

This early study tests the safety of TheraSphere PCa, tiny radioactive glass beads injected into the prostate to treat localized prostate cancer. The trial involves 36 men with favorable intermediate-risk cancer and aims to find the maximum safe radiation dose. Researchers will m…

This study aimed to see if the drug clomiphene citrate could help men with a condition called non-obstructive azoospermia, where the body produces little to no sperm. The plan was to give the drug or a placebo for nine months, then check if sperm could be found in the semen or th…

This study tests two treatments—isotretinoin (an acne medication) and hCG (a hormone)—to see if they can help men with low or no sperm count produce moving sperm. About 100 men aged 19 to 50 will take one of the drugs for three months. The goal is to find new options for male inf…

This phase 2 trial tests whether clemastine, a common allergy medication, can improve thinking, motor skills, and social abilities in people with Williams syndrome. The study includes 30 participants aged 6 to 30 and uses a double-blind, placebo-controlled design to measure safet…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study was designed to see if giving a short, mild electrical stimulation to compressed nerves during surgery could speed up recovery of strength and function. It planned to include people with nerve compression in the spine or limbs who were already scheduled for decompressi…

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…

This study aimed to test a focused radiation treatment (HDR brachytherapy) for men whose prostate cancer returned only in the prostate gland after earlier radiation therapy. It planned to enroll adults with biopsy-confirmed recurrence seen on a special PET scan. However, the stud…

This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.