Clinical Trial: Gene Therapy for Gyrate Atrophy

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional



Official Title: Phase I Study in the Safety and Efficacy of Transduced Keratinocytes for Possible Treatment of Gyrate Atrophy

Brief Summary:

This study will evaluate the safety and effectiveness of gene therapy for patients with gyrate atrophy, an inherited condition in which areas of the retina-the inner lining of the wall of the eye-become thin. Over several decades, this degeneration of the retina causes tunnel vision, night blindness, and other vision problems.

Gyrate atrophy is caused by a defect in the gene responsible for producing an enzyme, ornithine aminotransferase (OAT), that breaks down an amino acid called ornithine. As a result, excessive ornithine buildup causes the retinal thinning. Currently, this condition can only be treated with amino acid tablets and a very low-protein diet with limited fruits and vegetables and more than 2,000 calories a day from carbohydrates and fats. Some patients cannot maintain this diet, and they need another treatment. One possible alternative is to replace the defective gene with one that functions normally.

Patients who have been followed in NEI's Ocular Genetics service may be eligible to participate in this study. Study patients will undergo the following gene therapy procedure:

  1. Skin biopsy-A small piece of skin is surgically removed from the patient's thigh.
  2. Gene transfer-Skin cells called keratinocytes are taken from the biopsied tissue and grown in the laboratory. The normal gene that produces OAT is inserted into the cells, causing them to produce more of the enzyme.
  3. Skin graft-Under local anesthesia, a patch of skin about 2 1/4 inches x 2 1/4 inches is surgically removed from the upper thigh and some of the cells with increased OAT are grafted back onto this area.

Patients will be followed at 1 week a