New Hope for Spinal Muscular Atrophy

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ORLANDO, Fla. (Ivanhoe Newswire) — Spinal muscular atrophy or SMA is the number one genetic cause of death for infants today. It is a disease that robs a person of physical strength; affecting the motor nerve cells in the spinal cord. It takes away the ability to walk, eat, and even breathe. Without feeding tubes and other support methods, about three quarters of babies with type one SMA die before the age of two. Now, there’s new hope.

Asher Camp is now four and a half years old. He was diagnosed with spinal muscular atrophy at just six months.

“For days we were crying, because we just knew what we were about to face,” Amanda Camp, Asher’s mom told Ivanhoe.

Richard Finkel, MD, Chief, Division of Neurology at Nemours Children’s Hospital explained, “What we’ve learned through the clinical trials with Spinraza is that definitely the drug improves both survival and the ability to improve in their motor function.” (Read Full Interview)

Patients with SMA have a flaw in their SMN1 gene so they rely on their SMN2 gene, which does not produce enough protein for proper muscle function.

Doctor Finkel continued, “So what Spinraza does, is it works on this SMN2 gene to try to increase the amount of protein that’s made and try to restore function.”

Spinraza or Nusinersen was approved by the FDA in December of 2016. The results have been transformative for Asher.

“He is doing things like crawling and sitting up; he’s able to balance himself while standing,” said Camp.

Doctor Finkel says early diagnosis and treatment is key.

Doctor Finkel stated, “Hopefully the word is getting out to neurologists who would be caring for these babies to say that SMA is now a treatable disease.”

There seem to be no negative side effects to the drug; however, long term trials are still being conducted. Spinraza costs about $125,000 per dose. It is covered by most insurances and state Medicaid’s, and must be administered by spinal tap every four months in a hospital or clinical setting.

Contributors to this news report include: Gabriella Battistiol, Field and Assistant Producer; Cyndy McGrath, Supervising Producer; Roque Correa, Videographer and Editor.

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MEDICAL BREAKTHROUGHS

RESEARCH SUMMARY

TOPIC:             NEW HOPE FOR SPINAL MUSCULAR ATROPHY

REPORT:          MB #4316 

BACKGROUND: Spinal muscular atrophy (SMA) is a genetic disease that affects the part of the nervous system responsible for voluntary muscle movement. Most of these nerve cells are located in the spinal cord, and these muscles don’t receive signals from the nerve cells; as a result the muscles tend to shrink and weaken over time. In the most common form there is wide variety in age of onset, symptoms, and rate of progression. As a result, the chromosome 5 SMA is often classified into types 1 through 4. The age at which symptoms of SMA begin roughly correlates with the degree in which motor function is affected. Earlier onset usually results in greater impact on motor function. Infants will typically present the lowest level of function, classified as type 1. Next, children types 2 and 3, teens and adults type 4 usually display higher levels of motor function.

(Source: https://www.mda.org/disease/spinal-muscular-atrophy)

SYMPTOMS: Symptoms range from mild all the way to severe. The primary symptom is weakness of the voluntary muscles, including those closest to the center of the body; for example, shoulders, hips, thighs, and upper back. Other complications may occur when the muscles for breathing and swallowing are affected. If the muscles of the back weaken, curvatures may develop. Most infants with SMA are not expected to survive past two years of age, and if they do, it is using breathing and feeding devices for assistance. An individual with SMA may be unable to lift his head, arms or legs. He may not be able to grip things with his hands, or stretch, roll over, etc.

(Source: https://www.mda.org/disease/spinal-muscular-atrophy

Richard Finkel, MD)

NEW TREATMENT: A new drug named Spinraza or Nersinersin is changing the lives of patients with SMA. Approved by the FDA in December 2016, this drug is given via spinal tap, four administrations in the first two months, then once every four months after. Spinraza works to increase the amount of protein made in a person’s SMN2 gene to help restore proper muscle function. Patients involved in the clinical trials of this drug saw incredible results; the drug actually worked against the symptoms of SMA and helped improve patient muscle function and abilities. One particular patient went from being unable to crawl or lift his head, to standing with assistance, crawling, lifting his head and more.

(Source: Richard Finkel, MD)

FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:

Yusila Ramirez

Yusila.ramirez@nemours.org

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

Doctor Q and A

Read the entire Doctor Q&A for Richard Finkel, MD

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