After years of complex research there are signs that gene therapy can fix what doctors once thought were untreatable diseases.
A man once blind can now see... and a women who had trouble walking... is now on her feet and working out with an intensity she never imagined.
Dale Turner was barely old enough to read when doctors told him his world would soon go dark.
"The doctors said I would be completely blind by age 10," said Dale Turner, eye patient.
He has an inherited form of blindness called Leber's Congenital Amaurosis. A defective gene prevents his retina from producing the nutrients his eyes need. This resulted in his vision being limited-- like looking down a gun barrel.
Dale thought he'd be legally blind for the rest of his life, until his parents heard about an experimental therapy -- injecting new, healthy genes into the eye.
In a trial, doctors injected hundreds of billions of copies of the working gene beneath the retina in the back of the eye. As a result, four out of six patients regained vision.
"The improvement in vision corresponded exactly where the genes were replacing the defective gene," said William Hauswrirth, PhD, UF College of Genetics.
Dale will never forget the first time he went outside after surgery.
"I could see colors like never before, and it was just like a blue sky I've never seen before, and I had this feeling, like what have I been missing out on this whole time," said Turner.
Currently there are more than 1,500 gene therapy trials now taking place around the world.
Eye diseases are the focus of just 17 but nearly 1,000 trials are searching for a gene treatment for cancer, and 140 trials are underway for heart conditions.
Brenda Hill's heart is counting on one of those trials. She has peripheral artery disease. The arteries that supply blood to her legs are blocked.
"Like a toothache that never stopped, just ached and ached, just wouldn't stop," said Hill, PAD patient.
Medication wasn't working, so she enrolled in a gene therapy trial. Doctors at Rush University Medical Center injected genes into her leg muscles with the hope to trigger the growth of new blood vessels.
"The genes are often little pieces of DNA that become incorporated with the cells of the legs or heart and once they get incorporated they are supposed to tell the cells to release growth factors that stimulate new blood vessel growth," said Dr. Jeffery Snell, Interventional Cardiologist, Rush Univ. Med. Ctr.
"Some of the results have been encouraging, and some of the results have been disappointing," said Dr. Snell.
In this trial, those who improved saw their endurance increased by only about five percent.
Researchers said the use of stem cells for growing new blood vessels -- which is a different approach-- may be showing more promise at this time.
But, other gene therapy studies to help hearts are still in the works.
Brenda believes the gene treatment worked for her. A few months after her injection, she went from hobbling to hopping across the dance floor. The treatment also cut her medication by half.
"Made me feel good, made me feel like I'm progressing. I'm not ready to sit down yet," said Hill.
HIV is one of the latest targets for gene therapy. A recent study showed an injection of an anti-HIV gene could make the body resist the AIDS virus.
UF College of Medicine
Gainesville, Florida
John Pastor
Media Relations
jdpastor@ufl.edu
352-273-5815
www.news.health.ufl.edu
Rush University Medical Center
Dr. Jeffery Snell
Dr. Gary Schaer
University Cardiologists
1725 W. Harrison Street, Suite 1159
Chicago, IL 60612
(312) 942-5020
ACT 1 Investigational Carotid Stenosis Trial: ACT 1 investigational trial for patients with asymptomatic carotid stenosis. www.rush.edu/rumc/page-1144692727766.html
Carotid Artery Stenosis Study: Cartoid RX ACCULINK/RX ACCUNET post approval trial to uncover unanticipated and rare events (CAPTURE 2). www.rush.edu/rumc/page-1144692728127.html
Novel Peripheral Arterial Disease (PAD) Study: Novel investigational therapy for the treatment of intermittent claudication for those who suffer from Peripheral Arterial Disease (PAD). www.rush.edu/rumc/page-1250883267027.htm
RIHVR Rush Interventional Heart & Vascular Research
(888) 352-RUSH
Contact_rush@rush.edu
Dr. Schaer's Current Clinical Trials
Marvel Stem Cell Treatment Study:Study of a stem cell treatment using an investigational injection catheter in post MI congestive heart failure patients. http://www.rush.edu/rumc/page-1226342913082.html
Acord Trial: Treatment Study for No-Option Heart Patients with Coronary Artery Disease: Injections into the heart with a human recombinant (protein) fibroblast growth factor (FGF- investigational compound) compared to placebo. The goal is to stimulate the growth of new blood vessels around blocked coronary arteries. http://www.rush.edu/rumc/page-1239655966016.html
Osiris PROCHYMAL® Stem Cell Treatment Study: Study of PROCHYMAL® (cultured adult human mesenchymal stem cells) administration to preserve or improve cardiac function following heart attack http://www.rush.edu/rumc/page-1254747668563.html
