Nav: Home

New drug improves motor function of children with genetic disorder

February 14, 2018

ORLANDO, Fla. (February 14, 2018) - Children with later-onset spinal muscular atrophy (SMA) were more likely to show gains in motor function when treated with a new medication compared to children receiving a sham procedure, according to a study published today in the New England Journal of Medicine. The study demonstrates the impact the drug, nusinersen, can have on older patients with this progressive neuromuscular disorder.

"This treatment is transformative for the entire SMA community," said Richard S. Finkel, M.D., the chief of neurology at Nemours Children's Hospital in Orlando and the senior author of the study. "One thing we have learned, though, is that the closer to symptom onset that children begin treatment, the more substantial the improvement in motor function. However, even with delayed use, we observed significant improvements in older children with SMA on nusinersen."

SMA is classified based on the age at symptom onset, as well as the most advanced motor milestone attained during development. Past studies have evaluated the safety of nusinersen in SMA Type 1, the most severe form that affects infants, usually before six months of age and who do not achieve sitting. Children with SMA Type 2 experience symptoms after six months of age and attain sitting before experiencing the muscle weakness and decline in motor function that are hallmarks of this genetic disease.

Before nusinersen, no targeted drug treatments were available for SMA. This treatment modifies the SMN2 gene with an antisense oligonucleotide (ASO), a tiny fragment of synthetic DNA, injected directly into the spinal fluid. The DNA gets absorbed into nerve cells of the spinal cord to increase production of a protein required for neuromotor development.

The researchers noted greater improvements in a motor function score in children treated with nusinersen for at least six months. In total, 57 percent of children in the nusinersen group had an increase of at least three points in functioning scores from the start of the trial to the end of the examination period, compared with 26 percent of patients in the control group that achieved the same level improvement.

The study, known as the CHERISH trial, enrolled 126 children ages 2 to 12 with SMA Type 2 in a multicenter, randomized, double-blind, sham-controlled study from November 2014 through February 2017 to determine the safety and efficacy of the drug in these older patients. Children were administered four doses over nine months, followed by a six-month examination period, before being invited to participated in an open-label extension study.

There are some limitations to the study, including the strict eligibility criteria, which enrolled a more homogeneous and younger group of patients than those in clinical practice. Participants were required to be able to sit independently at the start of the study, with no severe contractures or scoliosis, limited ventilation support, and no use of a gastric feeding tube.

The availability of an effective treatment has led Dr. Finkel and colleagues to spearhead efforts to have SMA included in the Health Resources and Services Administration's Recommended Uniform Screening Panel, a newborn screening panel of conditions that warrant immediate identification after birth. The panel has recently approved this recommendation and is awaiting signature by the head of Health and Human Services. If included, infants with SMA could be diagnosed routinely and treated before symptoms appear.
-end-
The study was funded by Biogen and Ionis Pharmaceuticals, which market Spinraza, the commercial name for nusinersen.

Mercuri, E, et al. "Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy." New England Journal of Medicine (2018): 14 Feb. 2018. Web.

About Nemours Children's Health System

Nemours Children's Health System is an internationally recognized children's health system that owns and operates the Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., and Nemours Children's Hospital in Orlando, along with major pediatric specialty clinics in Delaware, Florida, Pennsylvania and New Jersey. Established as The Nemours Foundation through the legacy and philanthropy of Alfred I. duPont, Nemours offers pediatric clinical care, research, education, advocacy, and prevention programs to all families in the communities it serves.

Nemours

Related Children Articles:

Do children inherently want to help others?
A new special section of the journal Child Development includes a collection of ten empirical articles and one theoretical article focusing on the predictors, outcomes, and mechanisms related to children's motivations for prosocial actions, such as helping and sharing.
Children need conventional CPR; black and Hispanic children more likely to get Hands-Only
While compressions-only or Hands-Only CPR is as good as conventional CPR for adults, children benefit more from the conventional approach that includes rescue breaths.
Cohen Children's Medical Center study: Children on autism spectrum more likely to wander, disappear
A new study by researchers at Cohen Children's Medical Center of New York suggests that more than one-quarter million school-age children with autism spectrum disorder or other developmental disorders wander away from adult supervision each year.
The importance of children at play
Research highlights positive strengths in developmental learning for Latino children in low-income households based on their interactive play skills.
Racial disparities in pain children of children with appendicitis in EDs
Black children were less likely to receive any pain medication for moderate pain and less likely to receive opioids for severe pain than white children in a study of racial disparities in the pain management of children with appendicitis in emergency departments, according to an article published online by JAMA Pediatrics.
UofL offers vaccine trial for children with relapsed tumors at Kosair Children's Hospital
Children with relapsed tumors and their parents are finding hope in a Phase I research study led by Kenneth G.
Dana-Farber/Boston Children's opens immunotherapy trial for children with leukemia
Dana-Farber/Boston Children's Cancer and Blood Disorders Center has joined a clinical trial of immunotherapy for children with relapsed or treatment-resistant acute lymphoblastic leukemia (ALL).
Children less likely to come to the rescue when others are available
Children as young as 5 years old are less likely to help a person in need when other children are present and available to help, according to new research published in Psychological Science, a journal of the Association for Psychological Science.
IPT for children with anaemia
Researchers from Tanzania and South Africa, who are part of the Cochrane Infectious Disease Group, hosted at LSTM, have conducted an independent review to assess the effect of intermittent preventive antimalarial treatment for children with anaemia living in malaria endemic regions.
Safety first, children
Children are experts at getting into danger. So, how can parents help prevent the consequences?

Related Children Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Jumpstarting Creativity
Our greatest breakthroughs and triumphs have one thing in common: creativity. But how do you ignite it? And how do you rekindle it? This hour, TED speakers explore ideas on jumpstarting creativity. Guests include economist Tim Harford, producer Helen Marriage, artificial intelligence researcher Steve Engels, and behavioral scientist Marily Oppezzo.
Now Playing: Science for the People

#524 The Human Network
What does a network of humans look like and how does it work? How does information spread? How do decisions and opinions spread? What gets distorted as it moves through the network and why? This week we dig into the ins and outs of human networks with Matthew Jackson, Professor of Economics at Stanford University and author of the book "The Human Network: How Your Social Position Determines Your Power, Beliefs, and Behaviours".