Three Texas Siblings with Rare Form of Congenital Blindness Received First-of-Its-Kind Genetic Treatment at Baylor St. Luke’s
Baylor St. Luke’s is one of ten institutions in the United States offering the first FDA-approved gene therapy for a genetic disease.
HOUSTON (Jan 15, 2020) - Inherited retinal disease specialists at Baylor College of Medicine’s Alkek Eye Center, an outpatient surgery center at Baylor St. Luke’s Medical Center, successfully treated three young siblings with a rare form of hereditary blindness that begins in infancy and typically worsens over time. The treatment developed by Spark Therapeutics is the first FDA-approved gene therapy to ever exist for a genetic disease.
The novel therapy known as LUXTURNA treats patients with RPE65-associated Leber Congenital Amaurosis (LCA), an eye disorder caused by mutations in both copies of the REP65 gene, which alter a key vision-enabling protein. The newly FDA-approved therapy option, also known as gene replacement therapy, reverses the effects of this condition by replacing the mutated gene that causes the disease with a healthy copy of the gene.
“Spark put a normal copy of the human RPE65 gene into a virus that is designed to infect the right cells in order to make the right protein,” said Dr. Timothy Stout, retina surgeon at Baylor St. Luke’s and chair of ophthalmology and director of the Cullen Eye Institute at Baylor College of Medicine. “We then inject the virus underneath the retina in patients that have this condition and that’s how we can arrest the progression of the disease. The technology is remarkable because we can use a harmless-engineered virus to correct a blinding defect."
The FDA approved LUXTURNA in December 2017 after a phase three clinical trial in which patients who received the drug could navigate an obstacle course at night significantly better than those who received a placebo injection. RPE65-associated LCA patients who have been treated with this novel gene therapy have seen improvements in light sensitivity, visual field or how wide of an area people can see, and sight in dark conditions.
The most recent treatment in Houston was performed by Baylor St. Luke’s retina surgeon Dr. Roomasa Channa on three siblings from Georgetown, Texas, who were all born with the same condition caused by mutations in the REP65 gene. “These kids have grown up not seeing things we take for granted, such as stars in the night sky or their parents’ faces,” said Channa, who also is an assistant professor of ophthalmology at Baylor College of Medicine. “It’s great to hear their stories and the additional things they can slowly start to see after the procedure. Importantly, the therapy corrects the genetic defect and prevents further damage and loss of vision.”
“The team of doctors at Baylor St. Luke’s and Baylor College of Medicine has been incredible; especially Dr. Channa and Dr. Stout,” said Esther Owofade, the children’s mother. “They have been very kind and supportive throughout the process. We have started seeing differences in their vision, and for that, I’ll be forever grateful.”
LUXTURNA is the first directly administered gene therapy approved in the United States that targets a disease caused by mutations in a specific gene. This latest advancement signals the potential of gene therapy to successfully treat additional retinal genetic diseases for which there are no other treatments.
“There are millions of people who have problems with the other 300 genes that function as moving parts of the retina,” said Stout, who also was a co-investigator in the 2017 clinical trials that led to the FDA approval of LUXTURNA. “We should treat genetic diseases for which we have no other treatments with gene replacement therapy. It might not cure this disease, but it seems to work well in reverting or stopping the progression.”
Channa and Stout along with Dr. Christina Weng and Dr. Tahira Scholle, who both also are with Baylor College of Medicine, are the only retina surgeons in Texas specialized and trained to treat patients with RPE65 deficiencies with this latest gene therapy advancement. They have treated approximately a dozen of patients from around the world since LUXTURNA gained FDA approval in 2017.
About Baylor St. Luke’s Medical Center
Baylor St. Luke’s Medical Center is an 881-bed quaternary care academic medical center that is a joint venture between Baylor College of Medicine and CHI St. Luke’s Health. Located in the Texas Medical Center, the hospital is the home of the Texas Heart® Institute, a cardiovascular research and education institution founded in 1962 by Denton A. Cooley, MD. The hospital was the first facility in Texas and the Southwest designated a Magnet® hospital for Nursing Excellence by the American Nurses Credentialing Center, receiving the award five consecutive times. Baylor St. Luke’s also has three community emergency centers offering adult and pediatric care for the Greater Houston area.
About the Alkek Eye Center at Baylor College of Medicine
The Alkek Eye Center in the Cullen Eye Institute delivers a standard of eye care unmatched in our community. Services include diagnostic testing, visual field testing, laser vision correction, cataract surgery, cosmetic surgery of the eyelids and face, and more. In addition to providing elite care, the Alkek Eye Center team is dedicated to advancing the science of vision and are focused on applying the latest research to improve eye care and treatment.
About the CHI Texas Division
The CHI Texas Division, a member of Catholic Health Initiatives (CHI), is comprised of three markets―in Houston, CHI St. Luke’s Health (CHI St. Luke’s) is home to eight hospitals, eight emergency centers, Diagnostic & Treatment Center, Radiation & CyberKnife Center, and numerous Baylor St. Luke’s Medical Group locations throughout Greater Houston; CHI St. Luke’s Health Memorial (three hospitals and a long-term acute care facility in East Texas); and CHI St. Joseph Health (five hospitals and several St. Joseph Medical Group locations across Brazos Valley). In addition, CHI St. Luke’s flagship hospital, Baylor St. Luke’s Medical Center in the Texas Medical Center, is a joint venture with Baylor College of Medicine. Together, CHI St. Luke’s and Baylor College of Medicine are transforming healthcare delivery with a mission to usher in a new era of healthcare to create healthier communities. For more information, visit CHITX.org.