DNA repair disease

This study tested a surgical technique called a dermal roll flap to support the nostril base in 45 people who had a previous cleft lip repair. The flap uses extra skin from the lip to lift and stabilize the nostril on the cleft side. Researchers measured changes in nostril positi…

This early-stage study tested two drugs, cabozantinib and pamiparib, together in 44 people with advanced solid tumors that had stopped responding to standard treatments. The goal was to find the safest dose and understand side effects. The drugs work by blocking certain enzymes t…

This early-phase trial tested the safety of combining two drugs—L-NMMA and pembrolizumab (Keytruda)—in 12 adults with various advanced cancers. Pembrolizumab helps the immune system recognize cancer cells, while L-NMMA may remove a chemical barrier that blocks immune attack. The …

This study tested whether quercetin, a natural substance found in some foods, could help prevent a type of mouth cancer in people with Fanconi anemia, a rare genetic condition that raises cancer risk. 48 participants took quercetin to see if it reduced certain cell changes linked…

This study looked at people with three rare genetic conditions—xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD)—that affect the body's ability to repair DNA. Researchers examined 709 participants to understand how these defects relate to cancer ri…

This study gave 6 healthy adults a single tiny dose of labeled microplastics to track how much gets absorbed into the blood and how it leaves the body through urine and stool. Participants provided samples over 5 days. The goal is to understand basic movement of microplastics in …

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This pilot study tested whether a combination of two drugs (G-CSF and plerixafor) could safely collect enough stem cells from the blood of children with Fanconi anemia for future gene therapy. Only 4 patients took part, and the main goal was to see if the cell collection process …