Breaking News
October 20, 2018 - Breast Cancer as a Dynamic Disease
October 20, 2018 - University of Pittsburgh wins NSF grant for big data research to prevent complications from anesthesia
October 20, 2018 - Skin-to-skin contact may promote attachment between parents and preterm infants
October 20, 2018 - Recommendations Developed to Verify NGT Placement in Children
October 20, 2018 - Weight loss can be boosted fivefold thanks to novel mental imagery technique
October 20, 2018 - Children with autism are more likely to be overweight, obese
October 20, 2018 - Nurses making conscientious objections to ethically-relevant policies lack support
October 20, 2018 - Prion strain diversity may be greater than previously thought
October 20, 2018 - Antidepressant treatment may lead to improvements in sleep quality of patients with depression
October 20, 2018 - Study reports increased risk of death in children with inflammatory bowel disease
October 20, 2018 - Number of Autism Genes Now Tops 100
October 20, 2018 - Total diet replacement programmes are effective for treating obesity
October 20, 2018 - CLARIOstar used for fluorescence measurements on CSIRO’s purpose-built research vessel
October 20, 2018 - People with more copies of AMY1 gene digest starchy carbohydrates faster
October 20, 2018 - Case Comprehensive Cancer Center wins NIH grant to study health disparities
October 20, 2018 - Newly discovered compound shows potential for treating Parkinson’s disease
October 20, 2018 - High rate of non-adherence to hormonal therapy found among premenopausal early breast cancer patients
October 20, 2018 - Immunotherapy medicine found to be effective in treating uveitis
October 20, 2018 - The Pistoia Alliance Calls for Greater Collaboration to Realise Benefits of Innovation and Announces Winners of the 2018 President’s Startup Challenge
October 20, 2018 - Female internists consistently earn less than men
October 20, 2018 - Stanford team looks at dangers of teens’ vaping habits
October 20, 2018 - New approach to understanding cancers will accelerate development of better treatments
October 20, 2018 - LJI and UC San Diego awarded $ 4.5 million as part of NCI’s Cancer Moonshot initiative
October 20, 2018 - School-based HPV vaccination did not increase risky sexual behaviors among adolescent girls
October 20, 2018 - Eye discovery to pave way for more successful corneal transplants
October 20, 2018 - New analysis examines the importance of location in the opioid crisis
October 20, 2018 - Green filters increase reading speed for children with dyslexia
October 19, 2018 - Bariatric Sx Cuts Macrovascular Complications in Obesity, T2DM
October 19, 2018 - Better assessments for early age-related macular degeneration
October 19, 2018 - Visible and valued: Stanford Medicine’s first-ever LGBTQ+ Forum | News Center
October 19, 2018 - Understanding of metal-free enzymes used by bacteria could lead to new effective antibiotics
October 19, 2018 - Beckman Coulter Life Sciences announces new research-focused website
October 19, 2018 - Study finds link between refined soluble fibers, gut microbiota and liver cancer
October 19, 2018 - Social media reduces risk of depression among seniors with pain
October 19, 2018 - Newly developed synthetic DNA molecule may one day be used as ‘vaccine’ for prostate cancer
October 19, 2018 - Preoperative weight loss may not provide health benefits after surgery
October 19, 2018 - U.S. Birth Rates Continue to Drop as Age of New Moms Rises
October 19, 2018 - New technology can keep an eye on babies’ movements in the womb
October 19, 2018 - Juul e-cigarettes pose addiction risk for young users | News Center
October 19, 2018 - Gene sequencing reveals crucial molecular aspects of Trypanosoma brucei
October 19, 2018 - New DNA vaccine strategy protects mice against lethal challenge by multiple H3N2 viruses
October 19, 2018 - Study shows close link between cytokine interleukin-1ß and obesity-promoted colon cancer
October 19, 2018 - Muscle mass plays a critical role in health, shows research
October 19, 2018 - Study finds undiagnosed prediabetes in many infertile men
October 19, 2018 - The Current issue of “The view from here” is concerned with Nanotherapeutic strategies
October 19, 2018 - Delay in replacing the Pap smear with HPV screening is costing lives
October 19, 2018 - Physicians battle pediatric diseases of ear, nose, throat in Zimbabwe | News Center
October 19, 2018 - Researchers investigate why some cancers affect only young women
October 19, 2018 - Drugmakers funnel millions to lawmakers; a few dozen get $100,000-plus
October 19, 2018 - Unselfish people tend to have more children and receive higher salaries
October 19, 2018 - New findings reveal potential cellular players in tumor microenvironment
October 19, 2018 - Study reveals impact of Juul use on teenagers and young adults
October 19, 2018 - Green leafy vegetables could help reduce macular degeneration risk
October 19, 2018 - Some countries take more time for reimbursement decisions on new cancer drugs
October 19, 2018 - Human brain cell transplant offers insights into neurological conditions
October 19, 2018 - Parental education associated with increased family health care spending
October 19, 2018 - New statistical method estimates long- and short-term risk of recurrence of breast cancer in US women
October 19, 2018 - Father’s exposure to nicotine may cause cognitive deficits in descendants
October 19, 2018 - Could we prevent Alzheimer’s disease by treating herpes?
October 19, 2018 - Nurse-led care can be more successful in managing gout
October 19, 2018 - Trump administration, pharma exchange verbal volleys on drug-price transparency
October 19, 2018 - Duke researchers find way to detect blood doping in athletes
October 19, 2018 - Many primary care doctors are still prescribing sedative drugs for older adults
October 19, 2018 - Finger length can predict sexuality in women say researchers
October 19, 2018 - Study finds differences in side-effects experienced by male and female OG cancer patients
October 19, 2018 - Dysfunction of single gene leads to miscarriages
October 19, 2018 - Few Seniors Who Self-Harm Referred for Mental Health Care
October 19, 2018 - Don’t sweat the sweet stuff
October 19, 2018 - URMC researchers discover new approach to deliver therapeutics to the brain
October 19, 2018 - Speech Pathology Australia raises awareness about Developmental Language Disorder
October 19, 2018 - Middlemen suppliers can increase drug prices and hospital bills, say Johns Hopkins researchers
October 19, 2018 - Survey finds high prevalence of HTLV-1 infection among teens and adults in Gabon
October 19, 2018 - Bliss funds research to find whether parental touch can help alleviate pain in premature infants
October 19, 2018 - Human neurons employ highly compartmentalized signaling, study shows
October 19, 2018 - Ultromics expands multiple clinical trials for coronary heart disease to the U.S.
October 19, 2018 - $11 million NIH grant for Clemson University helps launch new center for musculoskeletal research
October 19, 2018 - A new approach identified to control Zika virus, dengue fever
October 19, 2018 - Head Blows Without Concussion May Not Damage Brain, Study Claims
October 19, 2018 - US opioid use not declined, despite focus on abuse and awareness of risk
October 19, 2018 - Next-generation RNA sequencing technology sheds new light on human mitochondrial diseases
Study findings highlight importance of early detection of SMA through newborn screening

Study findings highlight importance of early detection of SMA through newborn screening

image_pdfDownload PDFimage_print

Spinal muscular atrophy (SMA) is a genetic disease that affects motor neurons in the spinal cord, resulting in muscle atrophy and widespread weakness that eventually impair swallowing and breathing. A new study in the Journal of Neuromuscular Diseases finds that children with SMA type 1 can achieve improvements in motor function after six months of treatment with the drug nusinersen, particularly when treatment began before seven months of age. These findings highlight the importance of early detection of SMA through newborn screening.

“Our findings add to the increasing body of evidence that early diagnosis and initiation of treatment is fundamental for patients with infantile-onset spinal muscular atropy,” explained lead investigator Janbernd Kirschner, MD, of the Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, and Coordinator of the TREAT-NMD Clinical Trial Coordination Centre (CTCC), Freiburg (Germany).

SMA type 1 is the most common and also most severe subtype of SMA. After diagnosis infants with SMA type 1 rarely achieve improvements of motor function or attain motor developmental milestones. Within the last few years, there has been a promising approach for the development of novel drugs intervening the pathophysiology of SMA. Among these, nusinersen is the first drug specifically approved to treat SMA. Prior to approval in Europe, nusinersen was provided to patients with SMA type 1 within an Expanded Access Program (EAP). In contrast to the previous clinical trials, children of different age groups and different stages of the disease were treated with nusinersen within the EAP.

The current prospective, open-label study conducted in Germany reports outcomes from 61 children with SMA type 1 treated with nusinersen between November 2016 and June 2017 who met EAP guidelines. Patients ranged in age from a few months to almost 8 years. Symptoms generally appeared within the first three months of life and most babies were diagnosed before six months of age. Prior to treatment, more than jhalf of the children required ventilation support, 20% had already undergone a tracheostomy, and more than half required a feeding tube.

Although improvements in motor function are not expected within the natural course of the disease, the researchers observed improvements in motor function after six months of nusineresen therapy in many patients, and 34% of the patients achieved new motor developmental milestones. The response to treatment strongly correlated with age at onset of treatment. Overall, greater improvements were seen in children who began treatment at seven months or younger compared to those who started treatment after seven months. Improvements could still be seen in patients who started therapy between two and four years of age, although the magnitude of the changes was less than those for infants. Despite six months of treatment, none of the children were able to stand or walk independently, and many still required ventilator support and tube feeding.

The findings of this study add to the increasing body of evidence that early diagnosis and initiation of treatment are fundamental for patients with infantile onset spinal muscular atrophy highlighting the importance of the implementation of a newborn screening. “We have evidence that there is a critical therapeutic time window for delivery of SMN-targeted therapies,” noted Dr. Kirschner. “The implementation of newborn screening for SMA is crucial to allow pre-symptomatic diagnosis.

Based on the results of this study, the SMArtCARE project aims to collect further data of all SMA patients to evaluate outcomes in a broader spectrum of SMA, the effect of treatment after prolonged treatment periods, and also to what extent changes in motor function affect patients’ and caregivers’ quality of life.

SMA is caused by mutations in the survival motor neuron (SMN) 1 gene, which codes for survival motor neuron protein. This leads to loss of function. The SMN 1 gene is located on chromosome 5q13. Nusinersen, the first drug to be approved for SMA, is an antisense oligonucloetide which leads to increased expression of more full-length and functional SMN protein by functionally converting the SMN2 gene into the SMN1 gene. Nusinersen is injected into the spinal canal to allow it to distribute to the central nervous system.

Source:

Early Treatment with Nusinersen Can Mean Better Outcomes for Babies with Spinal Muscular Atrophy

Tagged with:

About author

Related Articles