Breaking News
November 13, 2018 - Janssen Reports Positive Topline Results for FLAIR Phase 3 Study of a Novel, Long Acting Injectable Two-Drug Regimen for the treatment of HIV-1
November 13, 2018 - Experimental compound reduces Gulf War illness-like behavior in mice
November 13, 2018 - Study shows how pneumococci challenge the immune system
November 13, 2018 - Simple cysts can be safely ignored, study finds
November 13, 2018 - First fully personalized tissue implant engineered from patient’s own materials and cells
November 13, 2018 - FDA Approves Keytruda (pembrolizumab) in Combination with Carboplatin and Either Paclitaxel or Nab-Paclitaxel for the First-Line Treatment of Patients with Metastatic Squamous Non-Small Cell Lung Cancer (NSCLC)
November 13, 2018 - Scientists take big step toward finding non-addictive painkiller
November 13, 2018 - Diabetes medication reduces risk of heart failure hospitalization
November 13, 2018 - Achieving high follow-up rates for violently injured patient population is feasible
November 13, 2018 - Shortage of specific gene ‘silencing’ molecules linked with pediatric low-grade gliomas
November 13, 2018 - Abx-Resistant Enterobacteriaceae Tied to Clinical Failure in UTI
November 13, 2018 - US approves first new type of flu drug in 2 decades
November 13, 2018 - Is zinc the link to how we think? Some evidence, and a word of warning
November 13, 2018 - Dispelling taboos, Michelle Obama talks IVF and miscarriage
November 13, 2018 - Medical experts discuss future challenges of healthcare at HSMA’s inaugural conference
November 13, 2018 - Growth and spread of deadly eye tumor suppressed in cells, animals
November 12, 2018 - Study finds huge shortfall in use of home-based medical care by frail seniors
November 12, 2018 - Cocaine Cut With Anti-Worming Drug, Levamisole, May Cause Brain Damage
November 12, 2018 - Obese mice lose a third of their fat using a natural protein
November 12, 2018 - Behind many a Parkinson’s case lurks a mutation in a gene called LRRK2 — why?
November 12, 2018 - Drug with fish oil cuts risk of heart attack, stroke, study finds
November 12, 2018 - Mild exposure to single blast can induce meaningful pathogenic effects, study shows
November 12, 2018 - Miniature pacemakers aim to make heart procedures for infants less invasive, more efficient
November 12, 2018 - Treating pre-cancerous stem cells at early stage could be key to preventing bowel cancer
November 12, 2018 - Kawasaki disease triggered by a combination of factors
November 12, 2018 - Optibrium and University of Nottingham Collaborate on Innovative Teaching Programme
November 12, 2018 - RNA defects linked to multiple myeloma progression in high risk patients
November 12, 2018 - Science is on trial – and we need doctors to provide the defense
November 12, 2018 - Salk researchers receive $19.2 million to unravel mysteries of age-related cognitive decline
November 12, 2018 - KE Eye Centers offer new solution for patients with myopia and astigmatism
November 12, 2018 - Trumpeted new Medicare Advantage benefits will be hard for seniors to find
November 12, 2018 - Biogen and Eisai Announce Presentation of Detailed Analyses from the Phase 1b Long-Term Extension Study of Aducanumab at Clinical Trials on Alzheimer’s Disease (CTAD)
November 12, 2018 - Scientists reveal new cystic fibrosis treatments work best in inflamed airways
November 12, 2018 - Hands-Only CPR training kiosks can teach life-saving skills in just minutes
November 12, 2018 - Inexpensive and effective drug does not reduce major adverse cardiovascular event rates
November 12, 2018 - Testing coronary calcium levels can better predict patient’s risk for coronary heart disease
November 12, 2018 - FDA conducts mass seizure of food and medical products held under insanitary conditions
November 12, 2018 - FDA Approves Invokana (canagliflozin) to Reduce the Risk of Heart Attack, Stroke or Cardiovascular Death in Adults with Type 2 Diabetes and Established Cardiovascular Disease
November 12, 2018 - Hormone helps reverse brain damage caused by obesity
November 12, 2018 - Grants aim to provide better cancer clinical trial access for military veterans
November 12, 2018 - Mitochondrial DNA may have strong influence on cellular metabolism and disease susceptibility
November 12, 2018 - High stakes, entrenched interests and the Trump rollback of environmental regs
November 12, 2018 - Stem cells transplanted for treatment of Parkinson’s disease
November 12, 2018 - Sandoz Inc. Issues Voluntary Nationwide Recall of One Lot of Losartan Potassium and Hydrochlorothiazide Due to the Detection of Trace Amounts of NDEA (N-Nitrosodiethylamine) Impurity Found in the Active Pharmaceutical Ingredient (API)
November 12, 2018 - Protein found in patients with severe asthma can help identify who would benefit from targeted drugs
November 12, 2018 - Experts develop a list of competencies in antimicrobial prescribing and stewardship
November 12, 2018 - Allied BioScience receives approved label from EPA for new bacteriostatic surface coating
November 12, 2018 - MR Solutions displays elegant bench top CT scanner with clip-on PET and SPECT at EANM congress
November 12, 2018 - FDA announces emergency use authorization of Ebola fingerstick test with portable reader
November 12, 2018 - Grieving spouses with sleep problems have increased risk of chronic immune activation
November 12, 2018 - Exercise routines affect mental health in Japanese expatriates
November 12, 2018 - Fish oil and vitamin D pills no guard against cancer or serious heart trouble
November 12, 2018 - Excess Gestational Weight Gain Not Better for Child Bone Health
November 12, 2018 - Immune receptor provides protective immunity against Group A Streptococcus
November 12, 2018 - Scientists develop new method to produce irradiated nanomaterials for medical applications
November 12, 2018 - Blue light exposure decreases blood pressure
November 12, 2018 - Researchers discover two proteins essential for development of skeletal muscle
November 12, 2018 - Yelp reviews help understand strengths, weaknesses of emergency departments and urgent care centers
November 12, 2018 - Adolescent obesity linked with increased risk of pancreatic cancer later in life
November 12, 2018 - AHA: Poor Teeth-Brushing Habits Tied to Higher Heart Risk
November 12, 2018 - Researchers find how natural killer cells regulate protective HIV antibodies
November 12, 2018 - Rutgers receives $4.2 million federal grant to improve mental health services
November 12, 2018 - Sussex scientists develop a piece of hardware to show how brains function
November 12, 2018 - Study shows pivotal role of parents in efforts to change sexual orientation of LGBT teens
November 12, 2018 - Neck scan detects dementia way before symptoms appear
November 12, 2018 - Risk-profiling can benefit HIV prevention
November 12, 2018 - New thrombolytic based on magnetite nanoparticles successfully tested on animals
November 12, 2018 - Smoking rates go down in the US, lowest since 1965
November 12, 2018 - Phase III Trial of Darolutamide in Patients with Non-metastatic Castration-resistant Prostate Cancer Meets Primary Endpoint
November 12, 2018 - Moderate exercise before conception resulted in lower body weight, increased insulin sensitivity of offspring
November 11, 2018 - Community choirs for older adults reduce loneliness and increase interest in life
November 11, 2018 - Trevena Receives Complete Response Letter for Oliceridine from FDA
November 11, 2018 - More adults and children are using yoga and meditation
November 11, 2018 - Female smokers at greater risk of heart attacks, finds study
November 11, 2018 - Happy Childhood Memories Associated With Better Health
November 11, 2018 - X-linked infantile spinal muscular atrophy – Genetics Home Reference
November 11, 2018 - RNA thought to spread cancer shows ability to suppress breast cancer metastasis
November 11, 2018 - Study finds that thymus plays key role during normal pregnancy
November 11, 2018 - Exploring why some athletes ice their muscles after exercise
November 11, 2018 - Female Genital Mutilation Decreasing in African Nations
Genetic testing and breakthrough therapies may transform diagnosis, care of neuromuscular disease

Genetic testing and breakthrough therapies may transform diagnosis, care of neuromuscular disease

image_pdfDownload PDFimage_print

A new report funded by the Muscular Dystrophy Association (MDA) and released by the IQVIA Institute for Human Data Science indicates that genetic testing and breakthrough therapies will transform the diagnosis and care of neuromuscular disease within the next decade. The report, “Understanding Neuromuscular Disease Care,” highlights current gaps in care and opportunities to optimize care and accelerate the emergence of new therapies. Insights gained from a survey of health care professionals focused on the care of patients with neuromuscular disease are also included.

Neuromuscular diseases encompass a broad group of disorders that collectively impact an estimated 250,000 patients and their caregivers in the United States alone. Although these diseases are rare and treatment options are currently limited, the financial impact is high. IQVIA’s report reveals total annual costs across all neuromuscular patients exceed $46 billion. The diagnostic odyssey can often take upwards of a year, although improvements in the speed, price and comprehensiveness of available genetic testing are accelerating the process. The report sheds light on the role data will play in revolutionizing the importance of early genetic screening, intervention and treatment, including through the newborn screening public health program, which has enormous implications on time to diagnosis and intervention.

“MDA is in the best possible position to transform the lives of people with neuromuscular disease,” says MDA President and Chief Executive Officer Lynn O’Connor Vos. “As the umbrella organization for more than 40 neuromuscular diseases, and with multidisciplinary clinics providing best in class care at more than 150 of the nation’s top medical institutions, we are galvanizing both industry and the research arena to develop better care and more cures.”

Through its comprehensive data hub, MOVR (NeuroMuscular ObserVational Research), MDA is playing a pivotal role in the advancement of research and care in neuromuscular disease. MOVR rolled out in 2018 and will become fully implemented at 50 MDA Care Centers in 2019 to improve the ability for researchers and health care providers to identify precision medicine treatments, enhancing options for care.

“The MOVR Data Hub will be extraordinarily powerful, enabling us to capture genome data, clinical data, professionally reported data and patient/family-reported data all in in one place,” says Dr. R. Rodney Howell, chairman of MDA’s Board of Directors. “The data from MOVR will provide benefits both in the present, identifying patients for treatments based on their genomic data, as well as in the future, as new treatment options become available. The study of the genomic data will identify important new genetic modifiers.”

Other insights from the study:

  • Treatment for neuromuscular disease is generally provided through a multidisciplinary care model, allowing patients to visit a range of specialists synchronously in a dedicated center.
  • Care paradigms and provider treatment decisions may be inconsistent, reflecting the challenges of small patient populations, varied symptoms and a lack of official guidelines, particularly for many of the less prevalent diseases.
  • Adopting technologies for remote appointments and real-time monitoring can improve care management by minimizing patient travel and increasing communication with health care providers.
  • There is a need to develop innovative approaches to pricing and reimbursement to tackle access to care for patients.
  • Psychological symptoms are an ongoing challenge, affecting 75 percent of patients and recognized by 90 percent of neuromuscular disease health care professionals as a high unmet need.

“The rapid progress being made in improving patient care and outcomes through the combination of scientific breakthroughs and the development of secure, scalable cloud-based data hubs is remarkable,” says Murray Aitken, executive director of the IQVIA Institute for Human Data Science. “Expectations are high for advancing patient care and bringing disease-modifying therapies across a number of neuromuscular diseases to patients and their families. We are pleased to collaborate with MDA in undertaking research that highlights both the gaps in care and the opportunities to address them in the near-term.”

Tagged with:

About author

Related Articles