Children with rare, incurable brain disease improve after gene therapy
 

http://news.ufl.edu/2012/05/16/gene/

Children with rare, incurable brain disease improve after gene therapy
, May 16, 2012.

GAINESVILLE, Fla. — Using gene transfer techniques pioneered by University of Florida faculty, Taiwanese doctors have restored some movement in four children bedridden with a rare, life-threatening neurological disease.
The first-in-humans achievement may also be helpful for more common diseases such as Parkinson’s that involve nerve cell damage caused by lack of a crucial molecule in brain tissue. The results are reported today in the journal Science Translational Medicine.

The children in the study, who ranged in age from 4 to 6, inherited a rare disease known as aromatic L-amino acid decarboxylase deficiency, or AADC. Patients with AADC are born without an enzyme that enables the brain to produce the neurotransmitter dopamine. They generally die in early childhood.

In a phase 1 clinical trial led by Dr. Wuh-Liang Hwu, of the National Taiwan University Hospital, surgeons used a delivery vehicle called an adeno-associated virus type 2 vector to transport the AADC gene into localized areas of the brains of three girls and a boy...