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Hope for Lanie: Curing SMA

A new gene therapy that could offer hope for young patients with a devastating disease.

She may be in a wheelchair, but 14-year-old Lanie Hannah doesn’t let that stop her from having fun.
She has SMA. It attacks the body’s motor neurons and causes paralysis.
“It affects my daily life, like not being able to do certain things,” she told Ivanhoe.
“Put her in bed, take her out of bed, dressing, I mean it affects everything that she does,” Lana Hannah, Lanie’s mom, told Ivanhoe.
There is no cure for SMA but for the first time doctors are studying an experimental therapy that targets more than just symptoms, it targets mutated SMN genes, which are responsible for SMA.
“With this treatment, we are targeting the disease,” Susan T. Iannaccone, MD, Pediatric Neurologist, Children’s Medical Center in Dallas and UT Southwestern Medical Center, told Ivanhoe.
The gene therapy is injected into the spinal fluid. The idea is the drug will enter into the nerve cells and change the protein production so that the normal SMN gene is created. It could mean fewer symptoms and more strength for patients.
“Our hope, absolutely, is that someday these children will not experience the symptoms,” Dr. Iannaccone said.
Lanie was in the phase I trial. She hopes this therapy will be the answer she’s been waiting for, because she has big plans for the future.
“I want to go to college. I want to be a teacher, and I want to teach English,” Lanie said.
“Everything that she does amazes me,” Lana Hannah said.
Lanie has a milder form of the disease, but she has never been able to walk. Researchers say the next step is to study more patients in a phase II trial to see if the gene therapy does what they hope it will.


BACKGROUND: Spinal Muscular Atrophy (SMA) is a genetic disease of the anterior horn cells, which are located in the spinal cord. SMA affects the voluntary muscles for activities such as crawling, walking, head and neck control and swallowing. Patients are usually diagnosed with SMA before six months of age. One in 5,000 babies is born with SMA. About 80 percent of SMA patients have the severe form of the disease and, without ventilators, do not usually live past age 2. The disease mainly affects the muscles closest to the trunk of the body. Weakness in the legs is generally greater than weakness in the arms. Some SMA patients may experience abnormal movements of the tongue -- called tongue fasciculations. However, most SMA patients experience normal senses, feelings, and intellectual activity. In fact, patients with SMA are often exceptionally intelligent and sociable. SMA is an autosomal recessive disease, which means both parents must carry the specific gene responsible for the disease. If both parents carry the gene, they have a 25 percent chance of having a child with SMA. (Source: http://www.fsma.org/fsmacommunity/understandingsma/)
NEW TECHNOLOGY: Generally doctors have treated SMA in a proactive way by trying to maintain movement when possible and being proactive in protecting children from other illnesses that could come with SMA. SMA in part is due to a malfunctioning protein, called Antisense oligonucleotide. The protein can change a way a gene functions. So now, doctors are treating SMA by targeting the protein. A gene therapy is injected into the spinal fluid, where it travels through the spinal tissue and into the nerve cells affected by SMA. Once there it tries to correct the malfunctioning protein so that the normal gene is created. Although not a cure, the therapy should make the patient stronger. The therapy is currently in the trail stage, and is only being tried on patients between the ages of 2 and 14. (Source: Dr. Susan Iannaccone)
FOR MORE INFORMATION, PLEASE CONTACT:

UT Southwestern Medical Center
University News Bureau
news@utsouthwestern.edu

If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com


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