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An automated process that combines natural language processing and machine learning identified people who inject drugs (PWID) in electronic health records more quickly and accurately than current methods that rely on manual record reviews.
Currently, people who inject drugs are identified through International Classification of Diseases (ICD) codes that are specified in patients’ electronic health records by the healthcare providers or extracted from those notes by trained human coders who review them for billing purposes. But there is no specific ICD code for injection drug use, so providers and coders must rely on a combination of non-specific codes as proxies to identify PWIDs — a slow approach that can lead to inaccuracies.
The researchers manually reviewed 1,000 records from 2003-2014 of people admitted to Veterans Administration hospitals with Staphylococcus aureus bacteremia, a common infection that develops when the bacteria enters openings in the skin, such as those at injection sites. They then developed and trained algorithms using natural language processing and machine learning and compared them with 11 proxy combinations of ICD codes to identify PWIDs.
Limitations to the study include potentially poor documentation by providers. Also, the dataset used is from 2003 to 2014, but the injection drug use epidemic has since shifted from prescription opioids and heroin to synthetic opioids like fentanyl, which the algorithm may miss because the dataset where it learned the classification does not have many examples of that drug. Finally, the findings may not be applicable to other circumstances given that they are based entirely on data from the Veterans Administration.
Use of this artificial intelligence model significantly speeds up the process of identifying PWIDs, which could improve clinical decision making, health services research, and administrative surveillance.
“By using natural language processing and machine learning, we could identify people who inject drugs in thousands of notes in a matter of minutes compared to several weeks that it would take a manual reviewer to do this,” said lead author Dr. David Goodman-Meza, assistant professor of medicine in the division of infectious diseases at the David Geffen School of Medicine at UCLA. “This would allow health systems to identify PWIDs to better allocate resources like syringe services programs and substance use and mental health treatment for people who use drugs.”
The study’s other researchers are Dr. Amber Tang, Dr. Matthew Bidwell Goetz, Steven Shoptaw, and Alex Bui of UCLA; Dr. Michihiko Goto of University of Iowa and Iowa City VA Medical Center; Dr. Babak Aryanfar of VA Greater Los Angeles Healthcare System; Sergio Vazquez of Dartmouth College; and Dr. Adam Gordon of University of Utah and VA Salt Lake City Health Care System. Goodman-Meza and Goetz also have appointments with VA Greater Los Angeles Healthcare System.
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A nationwide study in France has reported that during the 2019 heatwave, hot temperatures were closely linked with weight loss in heart failure patients, indicating worsening of their condition. The study is published today in ESC Heart Failure, a journal of the European Society of Cardiology (ESC).
“This study is the first to show a strict relationship between ambient temperature and body weight in heart failure patients,” said study author Professor François Roubille of Montpellier University Hospital, France. “The finding is timely given the heatwaves again this year. The weight loss we observed in people with heart failure may lead to low blood pressure, especially when standing up, and renal failure, and is potentially life-threatening. With rising temperatures forecast for the future, clinicians and patients should be ready to reduce the dose of diuretics when weight loss occurs.”
In patients with heart failure, the heart does not pump blood around the body as well as it should. Waste products accumulate, causing shortness of breath and fluid build-up in the lungs, legs and abdomen. Weight is the cornerstone of monitoring because weight gain is related to congestion, the main reason for hospital admission. Diuretics, also called water pills, are used to increase urine output and reduce breathlessness and swelling. ESC guidelines recommend educating patients to increase their diuretic dose or alert their healthcare team if they experience an increase in breathlessness or swelling or a sudden unexpected weight gain of more than 2 kg in three days.2 Weight loss has received less attention.
The authors of the current study hypothesised that the body weight of patients with heart failure could change during a heatwave. Professor Roubille explained: “When healthy people drink more fluids during hot weather, the body automatically regulates urine output. This does not apply to patients with heart failure because they take diuretics.”
The study examined the relationship between body weight and air temperature between 1 June and 20 September 2019, which covered the two heatwaves at the end of June and end of July. The analysis included 1,420 patients with chronic heart failure. The median age was 73 years, 28% were women, and the average weight was 78 kg. A national telemonitoring system was used to remotely obtain information on weight and symptoms. Patients weighed themselves every day using a connected weighing scale that automatically sent measurements to the clinic. Patients reported daily symptoms such as oedema, fatigue, breathlessness and cough by answering questions on a personal device (e.g. smartphone, tablet), with answers sent automatically to the clinic. Daily temperatures (at noon) were obtained using data from the closest weather station to each patient’s home.
The researchers analysed the association between patient weight, ambient temperature on the same day, and temperature two days prior to the weight measurement. The relationship between temperature and weight was very strong, with weight dropping as temperature rose. The strongest relationship was found with temperatures two days prior to the weight measurement.
Professor Roubille said: “The weight loss we observed during the heatwave was clinically relevant. Patients weighing 78 kg lost 1.5 kg in a short period of time. We were surprised to see that weight dropped with hot temperatures, as we had expected the opposite. For this reason, the telemonitoring system was programmed to alert clinicians when patients gained weight.”
He concluded: “Given the expectation of more heatwaves, telemonitoring systems also need to alert clinicians of weight loss in heart failure patients. In addition, systems could notify patients losing weight that it may be due to the heat and they should contact their healthcare provider about reducing the dose of diuretics. For heart failure patients not monitored remotely, a good rule of thumb would be to contact a healthcare professional if weight drops by 2 kg during a heatwave for advice on adjusting diuretic medication. Reacting early should help us to prevent complications.”
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Materials provided by European Society of Cardiology. Note: Content may be edited for style and length.

In a large clinical trial that directly compared four drugs commonly used to treat type 2 diabetes, researchers found that insulin glargine and liraglutide performed the best of four medications approved by the U.S. Food and Drug Administration to maintain blood glucose levels in the recommended range. Blood glucose management is a key component of keeping people with type 2 diabetes healthy. All four medications evaluated were added to treatment with metformin, which is the first-line drug to treat type 2 diabetes. The trial was funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health.
More than 37 million Americans have diabetes, and approximately 90 to 95% of them have type 2 diabetes. People with diabetes who keep their blood glucose levels in the near-normal range generally have a much lower risk of developing diabetes complications such as nerve, kidney, and eye diseases. Most people with type 2 diabetes require more than one medication to control blood sugar levels over time.
While there is general agreement among health care professionals that metformin combined with diet and exercise is the best early approach in diabetes care, there is no consensus on what to do next to best keep high blood glucose in check.
Launched in 2013, the Glycemia Reduction Approaches in Diabetes: A Comparative Effectiveness (GRADE) Study was conducted at 36 U.S. study centers. It was designed to compare four major medications approved by the FDA at the time GRADE started to treat diabetes in combination with metformin. Major results were published in a pair of papers in The New England Journal of Medicine.
“This study was designed to provide health care providers with important information on how to guide the long-term management of type 2 diabetes,” said Dr. Henry Burch, NIDDK’s project scientist for GRADE. “This is an integral step toward precision medicine for diabetes care, as these results can now be used in the decision-making process for each individual patient in light of their levels of glucose control, how well the medications are tolerated, and the person’s other health considerations.”
The study enrolled 5,047 people with type 2 diabetes from diverse racial and ethnic groups who were already taking metformin. Participants were randomly placed into one of four treatment groups. Three groups took metformin plus a medicine that increased insulin levels, sitagliptin, liraglutide, or glimepiride. The fourth group took metformin and insulin glargine U-100, a long-acting insulin.

Common concerns about telemedicine don’t hold up to scrutiny, a first-of-its-kind study highlighting telemedicine’s remarkable effectiveness concludes.
The paper is one of two studies on telemedicine by University of Rochester Medical Center (URMC) researchers appearing this week in NEJM Catalyst. The second study demonstrates the success of URMC’s effort to provide mental health services to nursing homes via a hybrid model that includes telemedicine.
“For patients, the message is clear and reassuring: Telemedicine is an effective and efficient way of receiving many kinds of health care,” said Kathleen Fear, Ph.D., lead author of the first paper, “Busting Myths about the Impact of Telemedicine Parity,” and director of data & analytics at the UR Health Lab. “Especially for those with transportation challenges, it is a service that really fills a gap — and, vitally, it does not compromise the quality of the care that patients receive.”
Fear and her co-authors used data generated in part by the COVID pandemic, when health care providers across the nation rapidly expanded their telemedicine services, to examine three specific concerns about telemedicine: That it will reduce access to care for the most vulnerable patients who may be unable to access digital services. That reimbursing providers for telemedicine services at the same rate as traditional services will encourage telemedicine overuse. That telemedicine is not an effective way to provide care.”We really dug into the data, and it disproved all three concerns, which is really quite exciting,” Fear said. “Not only did our most vulnerable patients not get left behind — they were among those engaging the most with, and benefitting the most from, telemedicine services. We did not see worse outcomes or increased costs, or patients needing an increased amount of in-person follow up. Nor did we find evidence of overuse. This is good care, and it is equitable care for vulnerable populations.”
Michael Hasselberg, Ph.D., RN, URMC’s chief digital health officer and the study’s senior author, said the paper marks the first time anyone has published comprehensive data refuting the three myths, whose persistence has limited the adoption of telemedicine nationwide. URMC researchers were in a unique position to undertake the study because of the work of more than 3,000 providers across the health system who engage in telemedicine and the UR Health Lab’s ability to analyze the data generated by their work.

A team led by Scripps Research scientists has uncovered key details of an immune-cell process that frequently underlies excessive inflammation in the body. The findings could lead to new ways of preventing and/or treating inflammation-related conditions such as sepsis, arthritis, and coronary artery disease.
In the study, published September 21, 2022 in Nature Communications, the researchers showed that a multi-protein “molecular machine” called WASH has a powerful role in restraining excessive inflammatory activity by neutrophils, immune cells that are important early responders against infections.
“Our findings point to the possibility of future treatments that target this WASH-regulated pathway to inhibit neutrophil-driven inflammation while preserving most of neutrophils’ anti-microbial effectiveness,” says study senior author Sergio Catz, PhD, professor in the Department of Molecular Medicine at Scripps Research.
Neutrophils are workhorses of the mammalian immune system, comprising about two-thirds of the white blood cells that circulate through our bloodstreams. They combat invading microbes by engulfing and digesting them, and by releasing a variety of antimicrobial molecules via a process called exocytosis.
Many of the antimicrobial molecules that neutrophils release via exocytosis are potent enough to harm healthy cells. There is evidence that excessive and/or chronic release of these molecules at least partly underlies serious medical conditions and types of tissue injury, including the bacterial blood-infection condition known as sepsis, arthritis, “reperfusion” injury to cells after oxygen deprivation, smoke inhalation injury to lungs, inflammatory bowel disease, some cancers, and even the artery-thickening atherosclerosis that leads to heart attacks and strokes. Yet scientists still have a lot to learn about how this exocytosis process works.
In the new study, Catz and his team illuminated the important role WASH plays in neutrophil exocytosis. Neutrophils, when they encounter signs of infection or inflammation, typically respond initially by releasing, via exocytosis, milder compounds within “gelatinase granules” — capsule-like enclosures named for one of the enzymes found within them. A second type of exocytosis, triggered secondarily and usually only by more severe infection or inflammation, involves the release of “azurophilic granules,” so-called because they are bound by a common blue stain. Azurophilic cargoes are far more potent and are more likely to damage bystander cells. The team showed that WASH normally facilitates the initial gelatinase granule response, which includes the release of compounds that help neutrophils adhere to and move around surfaces such as blood vessel walls. At the same time, WASH normally restrains the release of toxic azurophilic granules cargoes.
In experiments, neutrophils without WASH released excessive amounts of azurophilic granules. Mice with these neutrophils had blood levels of toxic azurophilic molecules that are normally found in cases of harmful systemic inflammation. The mortality rate of such mice when experiencing an experimental sepsis-like condition was more than triple that of normal mice.
“WASH seems to be an important molecular switch that controls neutrophils’ responses to infection and inflammation by regulating the release of these two kinds of antimicrobial cargoes,” Catz says. “When WASH is dysfunctional, the result is likely to be excessive and chronic inflammation.”
“In this study, using state-of-the-art cell biology approaches, we reveled how neutrophils control their timely response through sequential exocytosis, and have identified a molecular system that acts as the gatekeeper of this process,” Catz adds.
Catz and his colleagues are continuing to study WASH and other molecules involved in neutrophil exocytosis, with the goal of finding candidate drug molecules that can damp excessive azurophilic granule exocytosis — to treat inflammatory conditions — without impairing neutrophils’ functions as immune first responders.
The study’s co-first authors were Senior Staff Scientist Jennifer Johnson, PhD, and postdoctoral researchers Elsa Meneses-Salas PhD, and Mahalakshmi Ramadass, PhD, all members of the Catz lab during the study.
The research was funded in part by the National Institutes of Health (P01HL152958, R01HL088256, R01AR070837, R01DK110162).

A mother’s level of education can be an important predictor of early childhood overweight and obesity, according to a new international study.
The paper, published in Nature’s International Journal of Obesity, looks at the relation between early childhood socioeconomic status (SES) — as measured by maternal education levels and household income — and later development of childhood overweight and obesity in seven cohorts of children from high-income countries.
Social inequalities were evident across all cohorts, with greater risk of overweight and obesity linked to lower levels of maternal education in early childhood. There was also a link to household income, but it was less robust.
The pre-existing data came from longitudinal, prospective cohort studies previously conducted in Quebec, across Canada, the United States, Australia, the United Kingdom, the Netherlands and Sweden. These jurisdictions were intentionally selected because they fall along the gradient of socioeconomic inequality.
“We purposely wanted countries that had higher levels of inequality and some that had lower levels of inequality to see if the associations were evident across these different countries,” says Jennifer McGrath, professor[AF1] of psychology in the Faculty of Arts and Science and principal investigator of the EPOCH study. The EPOCH Collaborative Group is an international multidisciplinary research team that looks at how early poverty impacts later childhood health, from obesity to asthma, ADHD, chronic conditions and oral health.
The lead author of this study was Pär Andersson White at Linköping University in Sweden.

The answer to a relatively concise question — how does what we eat affect how we age — is unavoidably complex, according to a new study at the Butler Columbia Aging Center at Columbia University Mailman School of Public Health. While most analyses had been concerned with the effects of a single nutrient on a single outcome, a conventional, unidimensional approach to understanding the effects of diet on health and aging no longer provides us with the full picture: healthy diet needs to be considered based on the balance of ensembles of nutrients, rather than by optimizing a series of nutrients one at a time. Until now little was known about how normal variation in dietary patterns in humans affects the aging process. The findings are published online in the journal BMC Biology.
“Our ability to understand the problem has been complicated by the fact that both nutrition and the physiology of ageing are highly complex and multidimensional, involving a high number of functional interactions,” said Alan Cohen, PhD, associate professor of environmental health sciences at Columbia Mailman School. “This study therefore provides further support to the importance of looking beyond ‘a single nutrient at a time’ as the one size fits all response to the age-old question of how to live a long and healthy life.” Cohen also points that the results are also concordant with numerous studies highlighting the need for increased protein intake in older people, in particular, to offset sarcopenia and decreased physical performance associated with aging.
Using multidimensional modelling techniques to test the effects of nutrient intake on physiological dysregulation in older adults, the researchers identified key patterns of specific nutrients associated with minimal biological aging. “Our approach presents a roadmap for future studies to explore the full complexity of the nutrition-aging landscape,” observed Cohen, who is also affiliated with the Butler Columbia Aging Center.
The researchers analyzed data from 1560 older men and women, aged 67-84 years selected randomly between November 2003 and June 2005 from the Montreal, Laval, or Sherbrooke areas in Quebec, Canada, who were re-examined annually for 3 years and followed over four years to assess on a large-scale how nutrient intake associates with the aging process.
Aging and age-related loss of homeostasis (physiological dysregulation) were quantified via the integration of blood biomarkers. The effects of diet used the geometric framework for nutrition, applied to macronutrients and 19 micronutrients/nutrient subclasses. Researchers fitted a series of eight models exploring different nutritional predictors and adjusted for income, education level, age, physical activity, number of comorbidities, sex, and current smoking status.
Four broad patterns were observed: The optimal level of nutrient intake was dependent on the aging metric used. Elevated protein intake improved/depressed some ageing parameters, whereas elevated carbohydrate levels improved/depressed others; There were cases where intermediate levels of nutrients performed well for many outcomes (i.e. arguing against a simple more/less is better perspective); There is broad tolerance for nutrient intake patterns that don’t deviate too much from norms (‘homeostatic plateaus’). Optimal levels of one nutrient often depend on levels of another (e.g. vitamin E and vitamin C). Simpler analytical approaches are insufficient to capture such associations.The research team also developed an interactive tool to allow users to explore how different combinations of micronutrients affect different aspects of aging.
The results of this study are consistent with earlier experimental work in mice showing that high-protein diets may accelerate aging earlier in life, but are beneficial at older ages.
“These results are not experimental and will need to be validated in other contexts. Specific findings, such as the salience of the combination of vitamin E and vitamin C, may well not replicate in other studies. But the qualitative finding that there are no simple answers to optimal nutrition is likely to hold up: it was evident in nearly all our analyses, from a wide variety of approaches, and is consistent with evolutionary principles and much previous work,” said Cohen.
The study was supported by the Australian Research Council (ARC DECRA: DE180101520), the Canadian Institutes of Health Research (CIHR) grants 153011 and 62842; as well as grants from Fonds de recherche du Que?bec(FRQ) grant #2020-VICO-279753, Quebec Network for Research on Aging.

A recent study in the Journal of Investigative Dermatology describes the success of using lenabasum, a cannabinoid receptor type 2 (CB2) agonist that triggers the resolution of inflammation, to treat amyopathic dermatomyositis. This phase 2 trial, the first double-blind, randomized, placebo-controlled research on skin-predominant dermatomyositis, tested the potential benefits of activating the endocannabinoid system to reduce the inflammation causing the symptoms. More than 40% of the patients taking lenabasum demonstrated significant improvements.
Dermatomyositis is a rare systemic autoimmune disease with distinctive cutaneous features that are frequently accompanied by muscle inflammation, interstitial lung disease, and malignancy. Amyopathic dermatomyositis presents as active skin disease without muscle involvement.
“It had been over 60 years since a new medication was approved for any form of dermatomyositis, and intravenous immunoglobulin (IVIG) was just approved in the past year. Current treatments, which are limited and can involve frequent and costly intravenous infusions, are not always effective in treating its dermatological manifestations and can produce side effects,” explained lead investigator Victoria P. Werth, MD, Corporal Michael J. Crescenz Department of Veterans Affairs Medical Center, US Department of Veterans Affairs; and Department of Dermatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. “Our research showed that the CB2 agonist lenabasum works to improve the skin of patients with amyopathic dermatomyositis in a short period of time. The identification of a well-tolerated and effective oral medication greatly expands treatment options for patients with refractory skin disease.”
Lenabasum is an investigational drug under development. Twenty-two adults diagnosed with dermatomyositis with moderate to severe skin disease participated in the trial, receiving 20 mg daily of lenabasum or a placebo for 28 days, then 20 mg twice a day for 56 days. On Day 113, their Cutaneous Dermatomyositis Disease Area and Severity Index (CDASI) levels were evaluated relative to baseline, along with secondary outcomes such as quality of life (measured with the Skindex-29), and certain biomarkers.
More than 40% of the patients in the study taking lenabasum demonstrated significant improvements on the CDASI, a validated disease-severity scale. Results showed a trend for the change from baseline CDASI to be greater in lenabasum versus placebo starting at Day 43, two weeks after the dose was increased. At Day 113 there was a statistically significant difference between the two groups. The drug was well tolerated with no serious or severe side effects.
A phase 3 study of lenabasum was conducted last year, but with crucial changes resulting from an FDA mandate: The participant profile shifted to include predominantly dermatomyositis patients with both muscle and skin disease, rather than skin only as in the phase 2 trial. The study ran for a shorter period than originally planned and used outcomes that assessed lenabasum’s efficacy against inflammation in multiple organs (instead of skin only). The drug was not effective for the patients with both muscle and skin manifestations.
However, the Phase 3 trial did include a small subset of patients with skin-only dermatomyositis. For them, the lenabasum demonstrated a statistically and medically significant benefit at 28 weeks, suggesting differences in the skin responses between amyopathic and classic dermatomyositis patients.
“In order to identify effective new therapies, patients with skin-predominant disease should be studied distinctly from those with classic dermatomyositis, using appropriate and validated outcomes to measure success,” noted Dr. Werth.
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A team of UCF researchers have proven the efficacy of a nanomaterial-based disinfectant they developed to combat the spread of the COVID-19 virus. Through their experiments, they found that the disinfectant was able to kill several serious viruses including SARS and Zika. The results of their findings were recently published in ACS Applied Materials and Interfaces.
“It is always a delight to have our research work featured in a reputed journal,” said Udit Kumar, a doctoral student in the Department of Materials Science and Engineering (MSE) and the lead author of the journal article. “Given the theme and possible impact of antiviral research in current times, our article will definitely aid our fight against global pandemics.”
The paper outlines the most recent study from a multidisciplinary team of researchers that includes Sudipta Seal, the chair of the MSE department, and Griff Parks, a College of Medicine virologist and director of the Burnett School of Biomedical Sciences. They experimented with the nanomaterial yttrium silicate, which has antiviral properties that are activated by white light, such as sunlight or LED lights. As long as there is a continuous source of light, the antiviral properties regenerate, creating a self-cleaning surface disinfectant.
“Yttrium silicate acts as a silent killer, with antiviral properties constantly recharged by the light,” Kumar says. “It is most effective in minimizing surface to the surface spread of many viruses.”
Kumar says their test of yttrium silicate in white light disinfected surfaces with high viral loads in approximately 30 minutes. Additionally, the nanomaterial was able to combat the spread of other viruses including parainfluenza, vesicular stomatitis, rhinovirus, Zika and SARS.
“This disinfectant technology is an important achievement for both engineering and health because we all were affected during the pandemic,” Seal says. “COVID is still ongoing and who knows what other illnesses are on the horizon.”
Other UCF researchers, including College of Medicine postdoctoral researcher Candace Fox ’16MS ’19PhD, nanotechnology student Balaashwin Babu ’20 and materials science and engineering student Erik Marcelo, are co-authors on the paper.
“This publication is the culmination of timely insight by the investigators as to the importance of rapid development of broad-spectrum anti-microbials, as well as hard work in the lab to show the potency of our new materials,” Parks says. “This is an outstanding example of the power of cross-discipline research — in this case, materials science and microbiology researchers from CECS and COM.”
The research is funded by the U.S. National Science Foundation’s RAPID program.
Seal joined UCF’s Department of Materials Science and Engineering and the Advanced Materials Processing Analysis Center, which is part of UCF’s College of Engineering and Computer Science, in 1997. He has an appointment at the College of Medicine and is a member of UCF’s prosthetics cluster Biionix. He is the former director of UCF’s NanoScience Technology Center and Advanced Materials Processing Analysis Center. He received his doctorate in materials engineering with a minor in biochemistry from the University of Wisconsin and was a postdoctoral fellow at the Lawrence Berkeley National Laboratory at the University of California Berkeley.
Parks is the College of Medicine’s associate dean for Research. He came to UCF in 2014 as director of the Burnett School of Biomedical Sciences after 20 years at the Wake Forest School of Medicine, where he was professor and chairman of the Department of Microbiology and Immunology. He earned his doctorate in biochemistry at the University of Wisconsin and was an American Cancer Society Fellow at Northwestern University.
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Materials provided by University of Central Florida. Original written by Marisa Ramiccio. Note: Content may be edited for style and length.

An investigational drug developed to treat a rare, inherited form of amyotrophic lateral sclerosis (ALS) reduced molecular signs of the fatal, paralyzing disease and curbed neurodegeneration — but at six months, the drug did not improve motor control and muscle strength, according to results from a phase 3 clinical trial led by researchers at Washington University School of Medicine in St. Louis.
However, the researchers found evidence that longer-term use of the drug may help stabilize muscle strength and control, a finding that the researchers called encouraging. The trial was sponsored by the pharmaceutical company Biogen, the maker of the experimental drug. The data are published Sept. 22 in The New England Journal of Medicine.
Participants in the trial carry mutations in a gene called SOD1that create a misfolded version of a protein by the same name, which leads to ALS, also known as Lou Gehrig’s disease.
The trial showed that the drug, known as tofersen, reduces levels of SOD1 and also neurofilament light protein, a molecular marker of neurological damage. At the end of the placebo-controlled part of the study, participants were offered the option to receive tofersen as part of an open-label extension that will last up to 4½ years. The establishment of the open-label extension created two groups of participants: those who had been on tofersen from the beginning, and those who had received a placebo for six months before starting tofersen. An interim analysis six months into the extension revealed a significant difference in motor function between the early and late starters. After a year on the drug, some participants showed a stabilization of muscle strength and control, a remarkable finding for a disease characterized by relentless decline, the researchers said.
The open-label extension is ongoing, and researchers continue to monitor the participants’ motor function. In July, the Food and Drug Administration accepted Biogen’s new drug application for tofersen as a treatment for ALS linked to SOD1 mutations.
“This is an exciting and hopeful step toward finding a therapy for SOD1-related ALS,” said principal investigator Timothy M. Miller, MD, PhD, the David Clayson Professor of Neurology at Washington University and co-director of the School of Medicine’s ALS Center. “We see clear evidence that the drug slows down the initiating factor — a SOD1 mutation — as well as the neurodegenerative disease process. We didn’t see substantial clinical improvement at six months, but the stabilization in function and strength at longer time points suggests it may take time for people to heal from the damage that has already been caused. The vast majority of people living with ALS experience a relentlessly progressive downhill course, so the stabilization of function during the open-label extension is truly remarkable.”
About 20,000 people in the United States are living with ALS. The fatal disease kills the nerve cells that control walking, eating and breathing. Few people survive more than five years after diagnosis.