Therapy hopes to relieve patients of SMA symptoms

SOUTH BEND, Ind.--- She may be in a wheelchair, but Lanie Hannah, 14, doesn't let that stop her from having fun.

Hannah has SMA which attacks the body's motor neurons and causes paralysis.

Spinal Muscular Atrophy or, SMA, occurs in almost one out of every 10,000 births.

It's the most common, fatal genetic disease in infants.

If patients are lucky enough to make it through infancy they are usually confined to a wheelchair.

"It affects me in my daily life, and it keeps me from being able to do certain things,” said Lanie

"Putting her in bed, taking her out of bed, dressing, I mean it affects everything that she does,” said Lana Hannah, Lanie’s mom.

There is no cure and there are no treatments; however, a new clinical trial is offering hope 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," said Dr. Susan T. Lannaccone, a Pediatric Neurologist at the Children’s Medical Center in Dallas/UT Southwestern.

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,” said Lannaccone

Lanie was in the phase one trial, and 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 two trial to see if the gene therapy does what they hope it will.

Lanie 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,” said Lanie


REPORT: MB # 3765

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:
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)

UT Southwestern Medical Center
University News Bureau

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