New Gene Therapy Could Help AHDS Patients

By Hamodia Staff

Dr. Gad Vatine, of Ben-Gurion University’s Department of Physiology and Cell Biology. (BGU)

YERUSHALAYIM – A new gene therapy approach promises a treatment pathway for patients with Allan-Herndon-Dudley syndrome (AHDS), a rare brain development disorder that causes severe intellectual disability and problems with movement. 

“The ability of this gene therapy approach to provide long-term rescue of neurological phenotypes in this mouse model is an important proof of concept to move this therapy to humans,” said lead researcher Dr. Gad Vatine, of Ben-Gurion University’s Department of Physiology and Cell Biology. Vatine worked with colleagues at Cedars-Sinai and at the University of Chicago.

There is currently no effective treatment available for AHDS.

The disorder, typically diagnosed in childhood and only in males, is caused by a mutation in a thyroid hormone “transporter” known as MCT8, that is tasked with carrying thyroid hormones across the blood-brain barrier and into brain cells. This process is critical for human brain development and function. A breakdown in the process leads to serious intellectual disability and problems with speech and movement. Most affected children do not walk or talk. 

The researchers tested the potential of a viral gene therapy, AAV9-MCT8, to determine whether it could correct brain defects in mice that carry the mutation and possess symptoms of the disease. The AAV9 vector acts as a carrier that helps deliver genetic material, like MCT8, into cells. 

The mice showed an improvement in their learning curve, suggesting that the treatment has beneficial effects on cognitive and motor functions. 

To Read The Full Story

Are you already a subscriber?
Click to log in!