Gene Therapy Shows Promise For Helping Children With Canavan Disease

Dec 28 2012

Gene Therapy Shows Promise For Helping Children With Canavan Disease

Canavan

The research team concluded that early detection and gene therapy may offer the best results among infants diagnosed with Canavan disease.

Canavan disease is a rare inherited neurological disorder with devastating effect. The lack of a specific enzyme, called aspartoacylase, causes the body’s central nervous system to break down. The disease is usually fatal before a child reaches the teenage years.

A CHOP neuroradiologist, Dr. Larissa Bilaniuk, along with Dr. Dah-Jyuu Wang, CHOP's chief of Magnetic Resonance Spectroscopy, were among the co-authors of a new scientific study reporting on the long-term results of gene therapy for this devastating disorder.

The CHOP investigators performed highly specialized imaging studies on the patients in the phase 1/phase 2 clinical trial, which was led by Dr. Paola Leone from the University of Medicine and Dentistry of New Jersey. The 13 patients, all children, received gene therapy between 2001 and 2005. While not a cure, the gene therapy was safe, reduced the frequency of the patients' seizures, and stabilized their conditions, especially in the youngest patients. The research team concluded that early detection and gene therapy may offer the best results among infants diagnosed with Canavan disease.

The study, published Dec. 19 in Science Translational Medicine, was the first clinical application of a viral-based gene therapy for a neurodegenerative disorder.

To see a Philadelphia Inquirer article about this research, click here.

To read about CHOP's Radiology Department, click here.