Experimental Treatments

Gene therapy is an experimental method that either inactivates a defective gene or replaces it with a healthy copy to slow or halt the progression of a disease. Gene therapies are still in the early stages of development for Angelman syndrome. Read more about them below.

Minocycline is an antibiotic that has been used for years to treat bacterial infections. Scientists also have explored its potential to improve nerve function in children with Angelman syndrome. It was last studied in a Phase 2 trial for Angelman, but results published in 2018 showed a lack of benefit for patients.

Topoisomerase inhibitors are compounds that block the activity of an enzyme called topoisomerase 1 (Top1), which is primarily involved in DNA structural changes during cell division. So far, topoisomerase inhibitors such as topotecan and indotecan have only been evaluated in in mouse models, and there have been no studies in humans yet.

OV101, also known as gaboxadol or THIP, is an oral small molecule derived from a compound called muscimol, which is found naturally in a mushroom named Amanita muscaria. After failing a Phase 3 trial, the development of OV101 has been paused and its developer is evaluating next steps.