Breaking News
September 22, 2018 - Why Eczema Is Tougher to Treat for Black Patients
September 22, 2018 - Team reveals that human genome could contain up to 20 percent fewer genes
September 22, 2018 - USC research uncovers previously unknown genetic risk factor for Alzheimer’s disease
September 22, 2018 - Novel method achieves accurate and precise temperature estimation in fat-containing tissues
September 22, 2018 - BSI accredits Oxehealth’s vital signs measurement software as Class IIa medical device
September 22, 2018 - Evolution of psychiatric disorders and human personality traits
September 22, 2018 - Obesity in early puberty doubles asthma risk for boy’s future offspring
September 22, 2018 - World’s most advanced real-time patient monitoring platform receives key US patent
September 22, 2018 - Study explores connection between sexuality and cognitive status in older adults
September 22, 2018 - LSTM partners with TB Alliance to develop novel TB drug regimens
September 22, 2018 - Annual wellness visits improve delivery of preventive services in elderly population
September 22, 2018 - CHMP provides positive opinion to Cabometyx for previously-treated patients with hepatocellular carcinoma
September 22, 2018 - Hispanic communities with high proportions of Hispanics face more cardiovascular-related death
September 22, 2018 - Vici syndrome – Genetics Home Reference
September 22, 2018 - Single-dose drug can shorten flu symptoms by about a day, studies suggest
September 22, 2018 - AMSBIO launches circulating tumor DNA Reference Standards
September 22, 2018 - Sandalwood mimicking odorant could stimulate hair growth in humans
September 22, 2018 - Overlooked immune cells could play a key role in cancer immunotherapy, claims new study
September 22, 2018 - Study reveals prevalence of diagnosed type 1 and type 2 diabetes among American adults
September 22, 2018 - Researchers develop fast detection strategy to know type of virus acquired by patients
September 22, 2018 - Global Prevalence of Insufficient Activity 27.5 Percent
September 22, 2018 - Strategies to protect bone health in hematologic stem cell transplant recipients
September 22, 2018 - Brigham Genomic Medicine program unravels 30 medical mysteries
September 22, 2018 - New system harnesses power of bubbles to destroy dangerous biofilms
September 22, 2018 - Inflammation plays crucial role in preventing heart attacks and strokes, study reveals
September 22, 2018 - Calorie dense, nutrient deficient meals common across the world
September 22, 2018 - Researchers develop technology to study behavior of implants without animal testing
September 22, 2018 - First gut bacteria in newborns may have lasting effect on ability to ward off chronic diseases
September 22, 2018 - Detection of BFD virus in parrots in 8 new countries raises concerns for threatened species
September 22, 2018 - Insulin treatment shows great potential against chronic bowel inflammation
September 22, 2018 - ‘Liking Gap’ Might Stand in Way of New Friendships
September 22, 2018 - Simple factors that can avoid harmful side effects in type 2 diabetes
September 22, 2018 - ALSAM Foundation invests additional $2 million for drug discovery and development projects
September 22, 2018 - Study findings may advance discussion of how to effectively curb human-wildlife conflict
September 22, 2018 - Dopamine neurons may involve in conditions ranging from Parkinson’s disease to schizophrenia
September 22, 2018 - Protein C and Protein S Tests: MedlinePlus Lab Test Information
September 22, 2018 - Obesity and diabetes—two reasons why we should be worried about the plastics that surround us
September 22, 2018 - Concern over fussy eating prompts parents to use non-responsive feeding practices
September 22, 2018 - Novel mathematical approach uncovers existence of unsuspected biological cycles
September 22, 2018 - Cancer Research UK invests £14 million to transform London into cancer biotherapeutics hub
September 22, 2018 - Scientists predict how well the body will fight lung cancer by analyzing immune cell shapes
September 22, 2018 - New outbreak of rare eye disease identified in contact lens wearers
September 22, 2018 - Iterum Initiates SURE 2 and SURE 3 Phase 3 Clinical Trials of IV and Oral Sulopenem in Complicated Urinary Tract and Complicated Intra-abdominal Infections
September 22, 2018 - Research finds divide in dental health accessibility between city and regional areas
September 22, 2018 - Premature babies show better brain development when fed breast milk, finds study
September 22, 2018 - Novel system uses AI to detect abnormalities in fetal hearts
September 22, 2018 - UNC scientists reveal new approach to prevent obesity and diabetes
September 22, 2018 - CWRU receives NIH grant to learn how non-coding genes contribute to spread of colorectal cancer
September 22, 2018 - Scientists better understand influenza virus and how it spreads
September 22, 2018 - Scientists to focus on length of time when a person is alive and healthy
September 22, 2018 - Study shows positive financial impacts of Medicaid expansion for low-income Michigan residents
September 22, 2018 - Innovative approach for developing vaccine against most prevalent human malaria parasite
September 22, 2018 - New findings on characteristics of Burning Mouth Syndrome
September 22, 2018 - Study sheds light on molecular mechanisms underlying progression of prion diseases
September 22, 2018 - Innovation Fund Denmark supports research project that aims to fight Clostridium difficile diarrhea
September 22, 2018 - Survey estimates caregiving costs for family members
September 22, 2018 - Inhibiting NF-kB improves heart function in a mouse model of Duchenne muscular dystrophy
September 22, 2018 - Introducing new EMR system may affect several aspects of clinic workflow
September 22, 2018 - Study finds why some human genes are more popular with biomedical researchers
September 22, 2018 - Finding epigenetic signature appears to predict inflammation risk in serious type of IBD
September 22, 2018 - Researchers develop light-based technique to measure very weak magnetic fields
September 22, 2018 - UAB researchers study dysfunction of the immune system associated with NSAID carprofen
September 22, 2018 - QIAGEN and DiaSorin launch automated, CE-marked workflow for high-throughput TB screening
September 22, 2018 - EFS checklist provides user-friendly tool for evaluating feeding skills in preterm infants
September 22, 2018 - Family history in blacks, Latinos associated with higher risk of AFib
September 22, 2018 - Researchers identify new genetic disorder in a human patient
September 22, 2018 - Cardiac MR With Contrast Feasible in Developing World
September 22, 2018 - Daily low-dose aspirin doesn’t reduce heart-attack risk in healthy people
September 21, 2018 - Children with asthma found to be disadvantaged in education and future occupation
September 21, 2018 - Interaction of chemical slurry and ancient shale in fracking wastewater causes radioactivity
September 21, 2018 - Scientists use mice to study transmission of Lyme disease bacteria by infected ticks
September 21, 2018 - Researchers find that sample size is key factor determining accuracy of study results
September 21, 2018 - Study shows how the drive to eat overpowers the brain’s signal to stop
September 21, 2018 - 30 Million Americans Now Have Diabetes
September 21, 2018 - Thousands of breast cancer gene variants engineered and analyzed
September 21, 2018 - The current fellowship interview process is cumbersome — Stanford researchers have a better idea
September 21, 2018 - Progenitor cells for human bone and cartilage have been identified
September 21, 2018 - Study reveals new therapeutic target for pediatric tumor-associated intractable epilepsy
September 21, 2018 - SLU’s College professor receives NIH grant to develop I-TEST project
September 21, 2018 - DermTech completes enrollment in clinical study to assess DNA damage and reversal
New medication improves motor function in children with later-onset spinal muscular atrophy

New medication improves motor function in children with later-onset spinal muscular atrophy

image_pdfDownload PDFimage_print

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.​

Tagged with:

About author

Related Articles