Gentamicin for Junctional Epidermolysis Bullosa

This study tests whether gentamicin — an antibiotic that has a lesser-known ability to help cells "read through" certain genetic errors — can improve skin healing in patients with junctional epidermolysis bullosa (JEB), a rare and severe genetic skin disorder. JEB is caused by mutations in genes like LAMB3 that affect proteins holding the skin's layers together. The result is extremely fragile skin that blisters at the slightest touch. When the mutation is a specific type called a "nonsense mutation," gentamicin may allow the body to partially override the genetic error and produce more of the needed protein, potentially reducing blistering. The study is open to JEB patients of any age who have nonsense mutations in the LAMB3 gene. It focuses specifically on patients where the gentamicin approach is scientifically most likely to work. You may be eligible if: - You have been diagnosed with junctional epidermolysis bullosa (JEB) - You have a nonsense mutation in the LAMB3 gene in one or both copies You may NOT be eligible if: - Your JEB is not caused by a nonsense mutation in LAMB3 - You have a known hearing impairment - You have known kidney problems - You are allergic to aminoglycoside antibiotics (like gentamicin) or sulfate compounds - You are pregnant Talk to your doctor to see if this trial is right for you.