Success for Enzyme Replacement Therapy

Hypophosphatasia is a very rare disease with limited treatment available to those that have it. It is most commonly seen in children and occurs when the blood enzyme, alkaline phosphatase, levels are very low. This causes incredibly weak bones. A person with the disease can have intrauterine problems, stillbirths, and symptoms that resemble osteoporosis. Though this disease has been recognized and diagnosed for almost 20 years, there are still limited treatments.

Enzyme replacement in children with this disease is becoming a convincing method of treating this disease. Researchers at the St. Louis Shriners Hospital for Children and Washington University School of Medicine have done work with this method. They injected a purified form of alkaline phosphatase that targeted bones. The treatment, known as ENB-40, was given to patients three times a week for six months. This enzyme replacement proved very successful for the researchers. Bone health improved and levels of alkaline phophatase increased to normal levels. Not only did this improve the enzyme levels, but hormonal advantages were seen too. A hormone known as parathyroid hormone, increased to normal levels. This hormone is usually responsible for mineralization in the bones. When the patients had X-ray’s taken, the bones looked significantly healthier. It was said that children that had trouble walking at the beginning of the study, were playing outside and riding bikes at the end of the treatment.

This article was so interesting to me because I am very interested in working with children with rare and terminal illnesses when I graduate. I find this research to be remarkable and promising to any child with a rare disease because it gives hope that they will one day find a cure.

Link: http://www.biomedicalblog.com/a-success-for-enzyme-replacement-therapy/40900/

Alicia Capps