Parent Project Muscular Dystrophy's Ground-Breaking Effort: Completion of a Successful Pilot in Newborn Screening for Duchenne Muscular Dystrophy – Yahoo Finance

More than 36,000 Babies Screened in Partnership with New York State and NBSTRN; Data Presented at Association of Public Health Laboratories Newborn Screening Virtual Symposium
WASHINGTON, Oct. 6, 2021 /PRNewswire/ — Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), announced that the organization's Newborn Screening Pilot has successfully reached its completion, screening more than 36,000 babies born in New York State over the last two years. Data were presented today at the Association of Public Health Laboratories Newborn Screening Virtual Symposium about the pilot in New York State, which recently completed recruitment. As of July 31, 2021, 34 babies have been referred for significantly elevated levels of the muscle isoform of creatine kinase (CK-MM), suggestive of a muscular dystrophy. Four of these babies have been confirmed to have Duchenne/Becker muscular dystrophy, and one baby was identified as a carrier female.
This pilot testing program was launched in October 2019 in collaboration with a precompetitive consortium that includes the Newborn Screening Translational Research Network (NBSTRN) and New York State. The goal of PPMD's Newborn Screening Pilot was to prevent families from experiencing an unnecessary diagnostic odyssey and ensure that every family receives timely, supportive, accurate resources and clinical care at the time of diagnosis.
Families with babies identified to have Duchenne or any other muscular dystrophy through this pilot have access to expert genetic counseling and neuromuscular care, from the very beginning. They can benefit from early interventions and be prescribed appropriate therapies. They are eligible for clinical trials and research studies specific to infants with Duchenne. Families who participate in the pilot provide feedback on their experiences by completing surveys and an interview, in order to improve the newborn screening process for Duchenne. Moving forward, this pilot can serve as a model for newborn screening for all babies for Duchenne.
According to Founding President and CEO, Pat Furlong, PPMD has led a national effort to build a newborn screening infrastructure for Duchenne in the U.S. aimed at developing the evidence to support Duchenne newborn screening for the last seven years. Ms. Furlong says, "This is a hopeful time in Duchenne therapy development. We have a robust experimental therapy pipeline targeting multiple physiological pathways. Yet it is believed that therapeutic interventions may be optimally effective the earlier they can be offered. It is the goal of PPMD and the Duchenne community to help eliminate the diagnostic delay, the two or more painful, expensive and uncertain years that many families experience. Newborn screening is the most effective way to ensure that infants with Duchenne are diagnosed early, when therapies will likely be the most beneficial. We are grateful to all of our collaborators, including the NIH-funded Newborn Screening Translational Research Network (NBSTRN) and the New York State Department of Health, for all of their work on this pilot."
The pilot was funded and led by a consortium of Duchenne industry partners and PPMD with a commitment to early diagnosis and intervention in Duchenne. Current consortium members include PTC Therapeutics, Sarepta Therapeutics, PerkinElmer, Solid Biosciences, Pfizer, Inc., and PPMD. The pilot is guided by a Steering Committee comprised of representatives from healthcare professional groups, expert clinicians, and Duchenne stakeholder communities including the American Academy of Pediatrics, the Centers for Disease Control and Prevention, the EveryLife Foundation for Rare Diseases, and the Genetic Alliance's Expecting Health.
Niki Armstrong, PPMD's Newborn Screening Program Manager recognizes the monumental effort required from so many people and organizations to initiate this pilot and then continue it through in the midst of a pandemic. "This pilot has been a huge group effort, and we're incredibly grateful to all of those who have been willing to share their expertise, from the initial planning stages more than 5 years ago to the final analysis of the data, which is currently underway. And of course, we're deeply appreciative of our clinical sites at Northwell Health and New York Presbyterian Hospitals and the New York State Newborn Screening lab for their resourcefulness and resiliency, as they safely and successfully screened babies throughout a pandemic."
In addition to launching the Duchenne newborn screening pilot program, PPMD's newborn screening agenda includes active involvement on the reauthorization of the Newborn Screening Saves Lives Act; annual Duchenne-specific language within Appropriations and Report Language to ensure federal partners are focused on Duchenne newborn screening efforts; engagement with the federal Advisory Committee on Heritable Disorders for Newborns and Children; and leading the National Duchenne Newborn Screening Initiative, which has included the development of published care standards for newborns, ethical considerations for Duchenne newborn screening, and the publication of A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy.
Ms. Furlong reflects on the completion of the pilot, "We are exceptionally grateful to the families, experts, and partners who have helped us to get to where we are today—four babies identified with Duchenne or Becker who now have access to early interventions and care. Obviously no one wants their child to be diagnosed with Duchenne muscular dystrophy, but I am a firm believer that knowledge is power in our fight to end the progression of this deadly disorder. Without newborn screening, these families may have spent years on a stressful and exhausting diagnostic odyssey. Early diagnosis means early intervention, which will mean the best possible outcomes for these babies. This pilot, in combination with all of the past and ongoing pilots, lays the groundwork for Duchenne newborn screening to be performed across the country."
To learn more about PPMD's work in newborn screening, click here.
About Parent Project Muscular Dystrophy
Duchenne is a fatal genetic disorder that slowly robs people of their muscle strength. Parent Project Muscular Dystrophy (PPMD) is the largest, most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne—our mission is to end Duchenne.
We demand optimal care standards and strive to ensure every family has access to expert healthcare providers, cutting edge treatments, and a community of support. We invest deeply in treatments for this generation of Duchenne patients and in research that will benefit future generations. Our advocacy efforts have secured hundreds of millions of dollars in funding and won four FDA approvals.
Everything we do—and everything we have done since our founding in 1994—helps those with Duchenne live longer, stronger lives. We will not rest until we end Duchenne for every single person affected by the disease. Join our fight against Duchenne at EndDuchenne.org and follow PPMD on Facebook, Twitter, and YouTube.
About the Newborn Screening Translational Research Network (NBSTRN)
The Newborn Screening Translational Research Network (NBSTRN) is funded by a contract from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH) to the American College of Medical Genetics (ACMG) with the goal of advancing newborn screening related research (HHSN275201800005C). The NBSTRN is a key component of the Hunter Kelly Newborn Screening Research Program, and provides resources for investigators engaged in newborn screening-related research including new technology development, tools for developing the clinical history of genetic disorders and new treatment development. To learn more please visit www.nbstrn.org.
View original content to download multimedia:https://www.prnewswire.com/news-releases/parent-project-muscular-dystrophys-ground-breaking-effort-completion-of-a-successful-pilot-in-newborn-screening-for-duchenne-muscular-dystrophy-301391897.html
SOURCE Parent Project Muscular Dystrophy (PPMD)
How far off is Newcrest Mining Limited ( ASX:NCM ) from its intrinsic value? Using the most recent financial data…
Linamar Corporation (TSX: LNR) today released insights regarding the market activity observed during Q3 2021, as well as commented on other recent industry developments. The comments provide updates on the latest available industry conditions in the key Access, Agriculture and Automotive markets in which it operates.
LAGOS (Reuters) -Google plans to invest $1 billion in Africa over the next five years to ensure access to fast and cheaper internet and will back startups to support the continent's digital transformation, it said on Wednesday. The unit of U.S. tech company Alphabet Inc made the announcement at a virtual event where it launched an Africa Investment Fund, through which it will invest $50 million in startups, providing them with access to its employees, network and technologies. Nitin Gajria, managing director for Google in Africa told Reuters in a virtual interview that the company would among others, target startups focusing on fintech, e-commerce and local language content.
The Brazilian agency that regulates health insurance plans has opened an investigation into allegations that a hospital chain tested unproven drugs on elderly COVID-19 patients without their knowledge, the regulator's director told a Senate inquiry on Wednesday. It was the first instance of a regulatory agency pledging to look into misdeeds at Prevent Senior, a major healthcare chain serving tens of thousands of patients in the Sao Paulo area. Paulo Rebello Filho, head of the National Regulatory Agency for Private Health Insurance Plans (ANS), said his staff has detected "assistance abnormalities" at Prevent Senior and the health chain will be put under special technical supervision.
Shares of Moderna (NASDAQ: MRNA) fell 9% on Wednesday after Scandinavian health officials said they would take action to limit the use of the drugmaker's COVID-19 vaccine in children and young adults. The Swedish health agency will hold off giving Moderna's drug to people under 30 years old after preliminary data from a not-yet-published study showed a potential higher risk of heart inflammation in those who received the vaccine. "The connection is especially clear when it comes to Moderna's vaccine Spikevax, especially after the second dose," the agency said.
Takeda prematurely closed two narcolepsy tests, citing the emergence of a "safety signal," leading TAK stock to topple Wednesday.
(Bloomberg) — Over the last decade, Vertex Pharmaceuticals Inc. has transformed cystic fibrosis from a debilitating lung disease to a manageable condition for most people who suffer from the inherited ailment. That feat also cemented Vertex’s place in the Boston biotech pantheon.Most Read from BloombergChristmas at Risk as Supply Chain ‘Disaster’ Only Gets WorseLeft-Wing Rage Threatens a Wall Street Haven in Latin AmericaReshaped by Crisis, an ‘Anti-Biennial’ Reimagines ChicagoBefore Interstate
Cassava Sciences Inc (NASDAQ: SAVA) initiated an initial Phase 3 efficacy study of simufilam, an investigational drug for patients with Alzheimer's disease. A second Phase 3 efficacy study of simufilam in Alzheimer's disease is expected to begin by year-end. Phase 3 studies of simufilam in Alzheimer's disease are conducted under Special Protocol Assessments from the FDA. Related: Cassava Sciences Receives FDA's Special Protocol Assessment For Alzheimer's Trials. The first Phase 3 750-subject stu
Is AbbVie stock a buy as shares make a comeback on promising news for its drugs, Skyrizi and Rinvoq, in inflammatory conditions?
The adoption of telehealth services has boomed in the pandemic — with usage up 38-fold since January 2020, according to a report by McKinsey. In one of the latest developments, Bisu — a Tokyo-headquartered healthcare startup that has built a lab-grade testing device that can be used at home for diagnostics that translate into actionable health data — has raised $3.2 million. The seed round will be used to launch a portable home health lab, Bisu Body Coach, which provides personalized nutrition and lifestyle advice through easy, accurate urine and saliva testing.
Pfizer (NYSE: PFE) — is already the top dog in the COVID-19 vaccine market. The drugmaker is evaluating its oral antiviral therapy PF-07321332 in a couple of phase 2/3 studies, one in treating COVID-19 patients and another as post-exposure prophylaxis.
The Covid-19 pandemic propelled Scott Gottlieb from the relative obscurity of life as a former government official to a household name. In a new book, the Pfizer (ticker: PFE) board member and former Food and Drug Administration commissioner paints a grim picture of the federal government’s response. Vaccinations plus the latest surge may leave Americans with a  “wall of immunity,” he said in an interview.
Photo by Joshua Mayo on Unsplash Biotechnology development company AIkido Pharma Inc. (NASDAQ: AIKI) recently released its 1st-quarter report, which revealed the strongest balance sheet in the company’s history with approximately $102 million in cash and cash equivalents. It also shows a market capitalization of $73 million — trading approximately 30% below cash value. Investors typically view trading below cash value as a sign of trouble. Some may assume that the company’s burn rate is too high
Vaccinations against COVID-19 have likely prevented the hospitalizations and deaths of tens of thousands of older and more vulnerable American residents in the last five months, according to a new study from the Department of Health and Human Services. The report, released on Tuesday, used individual Medicare claims and county-level vaccination rates to estimate the net reduction in …
Sarepta Therapeutics has concentrated its main research and development operation at the Genetic Therapies Center of Excellence in Columbus, three years after hiring its research chief and a lead inventor from Nationwide Children's Hospital.
Expect to see data this month from several clinical trials that are trying to establish if “mixing and matching” different COVID-19 vaccines is safe and effective or if it’s better to get the same booster as the one used in the primary series of shots.
Photo by Louis Reed on Unsplash Since the coronavirus pandemic started, scientists have worked to develop a vaccine to inoculate the population and stop the spread of COVID-19. The good news is they succeeded in producing multiple vaccines — in the U.S. Pfizer (NYSE: PFE), Johnson & Johnson (NYSE: JNJ), and Moderna (NASDAQ: MRNA) — that create antibodies to the SARS-CoV-2 in humans to prevent infection. The bad news is that no vaccine is 100% effective, and breakthrough cases do happen, especial
Pfizer and OPKO Health's human growth hormone drug, somatrogon, could be approved by the U.S. Food and Drug Administration next January.
Cue Health Inc (NASDAQ: HLTH) will collaborate with Google Cloud to add respiratory viral variant sequencing and tracking to its Cue Integrated Care platform. Cue said it would build Google Cloud's artificial intelligence, machine learning, analytics, and privacy and security tools into its platform, including its Cue Health Monitoring System and rapid molecular COVID-19 test. The COVID-19 test delivers results to mobile devices in approximately 20 minutes. In March, the assay received Emergency
VistaGen Therapeutics (NASDAQ: VTGN), a biopharmaceutical company developing a new generation of medicines with the potential to go beyond the current standard of care for anxiety, depression, and other central nervous systems (“CNS”) disorders, has released data regarding a new mechanism of action. The data was gathered from a preclinical tissue distribution study studying laboratory rats and evaluating a single intranasal administration of radiolabeled carbon-14 PH94B. According to the announc

source