Magazine article Nutrition Health Review

Pioneering Gene Therapy for Children

Magazine article Nutrition Health Review

Pioneering Gene Therapy for Children

Article excerpt

A form of gene therapy created and produced at the University of North Carolina at Chapel Hill and approved by the U.S. Food and Drug Administration (FDA) has been given to children with a rare, inherited neurological disorder.

This work involved collaboration with investigators at the Robert Wood Johnson Medical School of the University of Medicine and Dentistry of New Jersey. Dr. Paola Leone and a group of 16 investigators and surgeons led the investigation.

The children had Canavan disease, characterized by spongy degeneration of the brain's white matter. The disease affects the growth of the fatty myelin sheath insulating nine fibers. Symptoms appear in early infancy and progress rapidly. These may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (floppiness or stiffness), poor head control, and megalocephaly (an abnormally enlarged head). Paralysis, blindness, or hearing loss also may occur.

There is no cure for Canavan disease or a standard course of therapy other than symptomatic and supportive treatment. The prognosis is poor, and patients usually die before age 10.

"Children with Canavan disease have a mutation in one of their genes, causing a deficiency of an enzyme responsible for removing cellular waste," said Dr. R. Jude Samulski, professor of pharmacology at the university's School of Medicine and director of the Gene Therapy Center. "In this disease, waste product builds up, causing brain cells to die."

Nothing can be done to prevent disease progression, said Dr. Samulski, which is why the objective was to place a gene into the brain that would express the missing enzyme.

The therapy uses a genetically altered adeno-associated virus (AAV) to deliver genes into the body. Dr. Samulski, a pioneer in AAV research, said he chose to study and develop altered AAV for several reasons, including its potential for fewer toxic effects than that of many other viruses studied for use in gene therapy. Moreover, a gene delivered via AAV remains active in cells for months or even years. This is the first time that the FDA has approved the clinical use of an AAV vector product for gene therapy produced by a U.S. academic institution.

The children who received the gene therapy were between four and six years of age. Surgeons drilled a series of six holes in the skull through which the virus and its gene payload were infused directly into various brain sites. …

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