The Federal Food & Drug Administration has granted approval for nusinersen (brand name Spinraza), the first disease-modifying drug to treat the most common genetic cause of infant deaths, spinal muscular atrophy (SMA). The drug will treat kids and adults with all forms of spinal muscular atrophy (SMA) caused by a deficiency of SMN protein.
"We celebrate a breakthrough that will profoundly change the lives of kids and adults with SMA - and their families - forever," said MDA President and CEO Steven M. Derks. "We are deeply grateful to our partners, supporters, and, most importantly, our families, who all played a role in turning hope and hard work into the reality of a life-changing treatment."
Muscular Dystrophy Association has invested more than $45 million in SMA research, awarding nearly $750,000 to Adrian Krainer at Cold Spring Harbor Laboratory in New York for early-stage development of Spinraza. FDA approval of this drug marks a second major breakthrough led by MDA's research program in recent months. In the Fall, we shared the good news about the first disease-modifying drug approved by the FDA to treat another disease that MDA has long fought for, Duchenne muscular dystrophy. The approvals for these drugs mark significant steps forward in the development of therapies for neuromuscular diseases.
"Whether it's the annual Mansfield Golf Classic in Georgia or fundraisers hosted by employees in our offices across the country, Mansfield is proud to be a longtime partner in this fight for families," said Mansfield CEO Michael Mansfield, Sr. "We invite you to join us in helping to continue this momentum by supporting or getting involved with MDA programs however possible. MDA needs caring people like you to contribute monetarily so research is funded, give your time by participating in or volunteering at events, and raising awareness about the 43 neuromuscular diseases that many kids and adults are challenged with every day."
Proceeds from the Mansfield Golf Classic are essential to research programs funded by the Muscular Dystrophy Association, which drives outcomes like this.
More about SMA from the Muscular Dystrophy Association
What is spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement.
Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease. SMA is muscular because its primary effect is on muscles, which don’t receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they’re not active. Read more...
What causes SMA?
Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for “survival of motor neuron.” This protein, as its name implies, seems to be necessary for normal motor neuron function. Its deficiency is caused by genetic flaws (mutations) on chromosome 5 in a gene called SMN1. Neighboring SMN2 genes can in part compensate for nonfunctional SMN1 genes.
What are the symptoms of SMA?
SMA symptoms cover a broad spectrum ranging from mild to severe.
The muscles closer to the center of the body (proximal muscles) are usually more affected in spinal muscular atrophy than are the muscles farther from the center (distal muscles).
The primary symptom of chromosome 5-related (SMN-related) SMA is weakness of the voluntary muscles. The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop. Read more...
What is the progression of SMA?
In chromosome 5-related SMA, the later the symptoms begin and the more SMN protein there is, the milder the course of the disease is likely to be. While in the past, infants with SMA typically did not survive more than two years, today most doctors now consider SMN-related SMA to be a continuum and prefer not to make rigid predictions about life expectancy or weakness based strictly on age of onset. Read more...
What is the status of research on SMA?
Research has focused on strategies to increase the body's production of SMN protein, lacking in the chromosome 5-related forms of the disease. Approaches in this and other forms of SMA include methods to help motor neurons survive in adverse circumstances. Read more...