Developmental defect during embryogenesis

This study tests whether ARD-101 can safely reduce extreme hunger and food-related behaviors in people with Prader-Willi syndrome over 12 months. About 90 participants who completed a prior study will take the drug daily and visit the clinic regularly. The goal is to improve qual…

This early-stage study tested a new drug called PF-07284892, alone or with other medicines, in people with advanced solid tumors that had specific genetic changes. The goal was to find the safest dose and check for side effects. The study was stopped early, so results are limited…

This early-stage trial tested an oral drug called TNO155, alone or with another drug (nazartinib), in 227 adults with advanced solid tumors like lung cancer, melanoma, and head/neck cancer. The main goal was to check safety and find the right dose. The study was terminated early,…

This study tested a treatment called Chondron, made from a patient's own cartilage cells, for repairing ankle cartilage defects. The trial aimed to see if the treatment could improve cartilage quality and ankle function over 18 months. However, the study was terminated early and …

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

This Phase 3 trial tested an oral drug called venglustat in 75 adults and children with late-onset Tay-Sachs or Sandhoff disease, rare genetic disorders that cause progressive nerve damage. The drug aimed to lower toxic fat buildup in the brain and slow disease worsening. However…

This study followed one person with microtia (a small or missing outer ear) who had already received an AUR-201 implant — a 3D-printed ear made from their own cartilage cells. Researchers checked how well the implant kept its shape and whether any side effects appeared up to 96 w…

This trial tested a new ear implant called AUR-201 for people with a rare birth defect called microtia, where one ear is small or missing. The implant was custom-made using the patient's own cartilage cells and a 3D-printed scaffold. Only 3 people were enrolled before the study w…

This study tested an experimental implant called AUR-201 to rebuild the outer ear in people with unilateral microtia (one ear that is small or missing). Only 2 people enrolled before the study was stopped early. The goal was to check safety and see if the implant improved ear app…

This study looked at whether adding an immunotherapy drug (pembrolizumab) to a targeted therapy (pemigatinib) works better than the targeted therapy alone or standard care for people with advanced bladder cancer that has a specific gene change (FGFR3). The study was stopped early…

This phase 2 study tested the drug pemigatinib in 111 people with advanced solid tumors that have specific FGFR gene mutations or translocations. The goal was to see if the drug could shrink tumors. The trial was terminated early, so the full results are not available.

This early-phase trial tested a new drug called INCB062079 in 25 people with advanced liver cancer and other solid tumors. The main goal was to check safety and find the best dose. The study was terminated early, so results are limited.

This phase 3 trial tests whether ARD-101 can reduce the intense, constant hunger (hyperphagia) seen in Prader-Willi syndrome. About 90 participants will take either ARD-101 or a placebo daily for 12 weeks. Caregivers will track changes in hunger-related behaviors using a standard…

This study looked at whether blowing a fan with aromatherapy on the face can help reduce breathlessness in people with terminal illness. The trial planned to enroll 26 adults who were near the end of life and had trouble breathing. Participants were randomly assigned to receive a…

This study tested whether propranolol, a beta-blocker usually used for heart conditions, can reduce nosebleeds in people with hereditary hemorrhagic telangiectasia (HHT), a genetic disorder that causes abnormal blood vessels. Fifteen adults with HHT took either propranolol or a p…

This small study tested a special laser (violet and green light) to see if it could tighten loose skin on the belly. Only 9 people signed up, and the study was stopped early. Researchers planned to compare before-and-after photos to judge improvement, but the tiny size and early …

This study tested whether a cannabis-derived compound called CBDV could safely reduce irritability in children and young adults with Prader-Willi syndrome. Only 6 people enrolled before the study was stopped early. The goal was to see if CBDV helped with mood and behavior problem…

This study aimed to find out how common sperm problems are in men with Fabry disease. Researchers planned to check sperm samples from 22 men aged 18 to 65. The study was stopped early, so results are limited.

This study aimed to understand why people with autism or schizophrenia sometimes struggle to recognize emotions on faces. Researchers used brain wave recordings (EEG) and eye-tracking to see how participants processed facial expressions. The study included people with autism, sch…

This study collects small skin samples from children aged 2 to 17 with Costello syndrome or a related condition. Researchers will analyze the cells to understand how a mutation in the HRAS gene affects energy use and mitochondria. The goal is to learn more about the disease's und…

This study aimed to see if orthognathic (jaw) surgery improves quality of life for people born with cleft lip and palate. Researchers planned to compare questionnaire scores before and 6 months after surgery in about 10 participants. The study was terminated early, so results are…

This pilot study aims to understand why people with pseudohypoparathyroidism type 1A (PHP1A) have a higher risk of type 2 diabetes. Researchers will measure insulin sensitivity and beta-cell function in 14 participants with PHP1A or related conditions, comparing them to matched h…

This study aimed to help children aged 6-8 from low-income families learn how to avoid foods they are allergic to. The program used fun, hands-on activities to teach safety skills. The study was stopped early, so we don't have clear results on whether it worked.

This study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagno…

This study looked at a type of spinal cord stimulation (SCS) that doesn't cause tingling, called paresthesia-free SCS, in 10 adults with chronic pain. Researchers wanted to see how well it works and how it affects pain perception. The study was terminated early, so the findings a…

This study looked at women and girls aged 12 to 40 with heavy menstrual bleeding to see if they also have joint hypermobility (loose joints). Researchers wanted to find out if these two issues together might point to an underlying connective tissue disorder. The study was stopped…

This study followed 7 people with Mucolipidosis Type IV (MLIV) to learn how the disease naturally progresses. Researchers used tests like neuropsychological exams, blood and urine tests, and brain MRIs to find better ways to measure the disease. The goal was to improve future cli…

This study looked at whether people born with cytomegalovirus (CMV) infection who have hearing loss or balance problems also have a condition called endolymphatic hydrops (fluid buildup in the inner ear). Researchers used a special MRI scan with a contrast dye to check for this f…

This early-stage study looked at how two common drugs (carbamazepine and itraconazole) change the levels of radiprodil in the blood of 30 healthy adults. The goal was to understand safety and dosing for future use in neurological conditions like tuberous sclerosis. However, the s…