Nav: Home

New advances in medication for muscle disease in children

February 26, 2018

Spinraza, the gene therapy medication, also provides significant improvements in cases with the next most severe form of neuromuscular disease, spinal muscular atrophy (SMA), which afflicts children from 6 to 18 months of age. That is shown by a study published in the New England Journal of Medicine (NEJM).

"The effects are convincing, and this reinforces results from the earlier study," says Mar Tulinius, professor of pediatrics at Sahlgrenska Academy and chief medical officer at the Queen Silvia Children's Hospital.

In the earlier study, published in NEJM in November, Mar Tulinius also was responsible for the Swedish part. Then Spinraza was administered for the most severe form of spinal muscular atrophy, SMA type 1, which afflicts children before they are six months old.

This time the study concerned SMA type 2, in which the illness occurs when children have learned to sit by themselves but have not yet begun to walk. The muscles gradually weaken, the children never stand upright on their legs and ultimately they need respirators to survive.

Two out three children in the current study received Spinraza; one out of three received a placebo. And this time, too, it turned out that the drug with the active substance nusinersen, which partly compensates for an inherited genetic error, altered the children's condition.

Their ability to sit up straight, raise their hands, move by rolling around, etc., was improved by an average of four points on the scale used to measure changes in spinal muscular atrophy. At the same time, children in the placebo group regressed an average of 1.9 points on the scale.

"The natural progression is for the children to lose points on this scale. Although there are variations within the group, they are never destined to get better. The fact that strength and mobility increased in those who received the drug is really quite amazing," Mar Tulinius said.

People with spinal muscular atrophy lack a protein that is required for the motor nerve cells in the spinal cord to function. If both parents are carriers, the likelihood that the child will get the disease is 25 percent.

Every year 10 or so children in Sweden are diagnosed with SMA. The two most difficult variations, type 1 and 2, are covered by a recently issued recommendation from the Swedish Council for Novel Therapies (NT-rådet) of Sweden's municipalities and county councils that under certain conditions and strict control, children should be offered treatment with Spinraza.

"Often, they say no, we can't afford it, when it comes to expensive orphan drugs. But this one produces such good results that it is impossible to ignore," says Mar Tulinius.
-end-
Title: Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy; http://www.nejm.org/doi/full/10.1056/NEJMoa1710504

University of Gothenburg

Related Spinal Muscular Atrophy Articles:

Spinal muscular atrophy (SMA): Newborn screening promises a benefit
The earliest possible diagnosis and treatment of infantile SMA through newborn screening leads to better motor development and less need for permanent ventilation as well as fewer deaths.
Researcher's technology differentiates between Parkinson's disease and multiple system atrophy
Scientists have found a way to distinguish between two progressive neurodegenerative diseases, Parkinson's disease (PD) and multiple system atrophy (MSA), using a technology developed by a researcher at UTHealth.
Exposure to PM 2.5 pollution linked to brain atrophy, memory decline
Women in their 70s and 80s who were exposed to higher levels of air pollution experienced greater declines in memory and more Alzheimer's-like brain atrophy than their counterparts who breathed cleaner air.
Nusinersen improves motor function in adults with spinal muscular atrophy
A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more.
Transplanting adult spinal cord tissues: A new strategy of repair spinal cord injury
Spinal cord injury repair is one of the most challenging medical problems, and no effective therapeutic methods has been developed.
Memory tests predict brain atrophy and Alzheimer's disease
Use of two episodic memory tests help in predicting brain atrophy and Alzheimer's disease, as indicated by a study carried out at the University of Helsinki and the University of California.
Researchers correlate spinal muscular atrophy disease expression with haplotypes
A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy (SMA) within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity.
Spinal muscular atrophy drug may be effective if started later than previously shown
A drug shown to be effective in the treatment of babies with the rare muscle-wasting disease spinal muscular atrophy may be effective for muscle control even when treatment is started in children seven months and older, according to a study published in the Aug.
New nusinersen drug delivery method identified for spinal muscular atrophy patients
A new report has identified an alternative method to deliver nusinersen to patients with spinal muscular atrophy (SMA) using a subcutaneous intrathecal catheter system (SIC) configured by connecting an intrathecal catheter to an implantable infusion port.
Dr. Jekyll, Mr. Hyde: Study reveals healing mesenchymal cells morph and destroy muscles in models of spinal cord injury, ALS and spinal muscular atrophy
Scientists at Sanford Burnham Prebys Medical Discovery Institute (SBP), in collaboration with the Fondazione Santa Lucia IRCCS in Rome, have discovered a new disease-specific role in FAP cells in the development of muscle tissue wasting, indicating a potential new avenue for treating motor neuron diseases including spinal cord injury, ALS and spinal muscular atrophy.
More Spinal Muscular Atrophy News and Spinal Muscular Atrophy Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Listen Again: Reinvention
Change is hard, but it's also an opportunity to discover and reimagine what you thought you knew. From our economy, to music, to even ourselves–this hour TED speakers explore the power of reinvention. Guests include OK Go lead singer Damian Kulash Jr., former college gymnastics coach Valorie Kondos Field, Stockton Mayor Michael Tubbs, and entrepreneur Nick Hanauer.
Now Playing: Science for the People

#562 Superbug to Bedside
By now we're all good and scared about antibiotic resistance, one of the many things coming to get us all. But there's good news, sort of. News antibiotics are coming out! How do they get tested? What does that kind of a trial look like and how does it happen? Host Bethany Brookeshire talks with Matt McCarthy, author of "Superbugs: The Race to Stop an Epidemic", about the ins and outs of testing a new antibiotic in the hospital.
Now Playing: Radiolab

Dispatch 6: Strange Times
Covid has disrupted the most basic routines of our days and nights. But in the middle of a conversation about how to fight the virus, we find a place impervious to the stalled plans and frenetic demands of the outside world. It's a very different kind of front line, where urgent work means moving slow, and time is marked out in tiny pre-planned steps. Then, on a walk through the woods, we consider how the tempo of our lives affects our minds and discover how the beats of biology shape our bodies. This episode was produced with help from Molly Webster and Tracie Hunte. Support Radiolab today at Radiolab.org/donate.