A research group at Manchester University have used gene therapy to
treat Sanfilippo in mice for the first time, and hope to be testing the treatment in humans within two years.
Sanfilippo syndrome is a rare disease, caused by a deficiency in one of the enzymes needed to break down certain types of sugars in the body. The disease manifests in young children.
Affected infants seem normal to start with, although some mild facial dysmorphism may be noticeable. The stiff joints, hirsuteness and coarse hair occur later. The disease progresses to increasing behavioral disturbance including temper tantrums, hyperactivity, destructiveness, aggressive behavior, pica and sleep disturbance. he life-span of an affected child does not usually extend beyond late teens to early twenties.
The lead researcher, Dr Brian Bigger,
stated that newly-developed new stem cell therapy could offer "a significant correction of the brain disease that children suffer from, and some children may lead more normal lives," he said, noting that, "in the best case scenario it may be largely curative".
