2023 Volume 40 Issue 4 Pages 526-530
Recent technological innovations in nucleic acid medicine have opened the way for personalized gene therapy for rare neurological diseases for which there is no cure. In 2018, at Harvard Medical School Boston Children's Hospital, a personalized nucleic acid medicine was developed and manufactured targeting the unique genetic sequence of a girl with neuronal ceroid lipofuscinosis (Batten disease) ; the fatal neurodegenerative disease, and was administered in a physician–driven N–of–1 clinical trial within one year of development. Since this pioneering effort, “N–of–1+ trials” using nucleic acid medicine for one or a few patients have started in the United States. “N–of–1+ trial” is a new approach for the rapid development of treatment for rare diseases with a severe prognosis that have no treatment, and it can be applied to many inherited rare neurological diseases. However, it requires collaboration and coordination among healthcare professionals, patients and patient groups, pharmaceutical companies, and regulatory agencies.
