Gene therapy shows promise in the treatment of Canavan's disease
Researchers at the School of Osteopathic Medicine, part of the University of Medicine and Dentistry of New Jersey, working under the guidance of Dr. Paola Leone, have demonstrated the long-term safety and positive effects of gene therapy for Canavan's disease. This severe hereditary neurological disease leads to the death of patients under the age of 10 years.
Symptoms of Canavan's disease usually appear at the age of 6 months. They are the result of a violation of the formation of the protective myelin sheath around the neurons of the brain. This leads to atrophy of brain tissue, manifested by a complex of symptoms, including severe delay in motor and mental development, epilepsy and, eventually, death. The cause of the disease is a defect in the ASPA gene.
Researchers have created an effective system for delivering a normal copy of the human ASPA gene to cells based on particles of an adeno-associated virus. These viruses are non-pathogenic and at the same time able to infect non-dividing cells and persist in the intracellular space in an extrachromosomal state without integrating into the cell genome, which avoids endogenous activation of oncogenes.
In six brain regions, 13 patients with Canavan's disease (aged 3-96 months) were injected with an adenoviral vector-a carrier of a normal copy of the ASPA gene. The condition of all study participants was monitored for at least 5 years. This study was the first clinical study of gene therapy intended for the treatment of neurological diseases, approved by the National Institute of Neurological Diseases and Stroke.
The results of the analysis of the data collected during the observation period demonstrated a statistically significant decrease in the concentration of N-acetylaspartate in several regions of the patients' brains. An increase in the content of this amino acid, which affects the metabolism of the nervous system, is the main marker of the progression of Canavan's disease.
Among other observations, the severity of atrophy of the posterior regions of the brain was less than one might assume. There were also signs of increased activity, most pronounced in patients of an earlier age, and a decrease in the frequency of seizures. The researchers note that, in general, the younger the patient, the more pronounced the positive effect of experimental gene therapy on his condition.
According to Dr. Leone, the developed method of gene therapy requires further optimization, but it has already proved to be a promising approach to the treatment of young children with a genetic defect that causes Canavan's disease.
Article by Paola Leone et al. The Long-Term Follow-Up After Gene Therapy for Canavan Disease is published in the journal Science Translational Medicine.
Evgeniya Ryabtseva
Portal "Eternal youth" http://vechnayamolodost.ru based on the materials of the University of Medicine and Dentistry of New Jersey:
First Use of a Gene Therapy Shows Promise Against Fatal Childhood Disease.
Portal "Eternal youth" http://vechnayamolodost.ru21.12.2012