On Monday, researchers published a breakthrough in JAMA Neurology that suggests a gene that causes amyotrophic lateral sclerosis, or ALS, could be linked to dementia.
ALS—which is more commonly referred to as Lou Gehrig’s disease after the famous baseball player who was diagnosed with it—occurs when a patient’s motor neurons, which direct movement, begin to mysteriously die, making it difficult for them to control muscles and perform basic actions, from speaking to walking to breathing, without help.
The disease has no cure thus far.
What makes ALS, which also affected the late physicist Stephen Hawking, especially confusing is the fact that about half of patients with the condition also develop memory and cognitive issues. That didn’t make sense to scientists: How could a disease that affected the very foundation of how people move affect their thinking and ability to remember?
The new research, a collaboration between scientists at the University of California at San Francisco and Washington University, was a genetic meta-analysis of 124,876 individuals of European ancestry.
What the team found shows that there could be a genetic link between the breakdown of movement and cognitive skills. That link comes from a gene that’s been associated with neurodegenerative diseases, such as Alzheimer’s, Parkinson’s, or frontotemporal dementia (FTD).
Specifically, what’s known as the tau protein seems to be connected to an elevated risk factor for ALS. Mutations in the tau protein also seem to be linked to neurodegenerative diseases, particularly when the tau protein starts to abnormally pile up in sections of the brain that are affected by neurodegenerative diseases like Alzheimer’s.
What made the researchers’ analysis more compelling is the fact that the tau protein link was the only one associated between neurodegenerative diseases and ALS.
FTD, in fact, could be the key to figuring out why some ALS patients are susceptible to cognitive issues. FTD typically targets neurons that affect how we socialize with others—how we judge behavior to be appropriate or not in a situation, and how we might inhibit ourselves from acting one way even though we might internally want to act on a behavioral urge.
The set of genes that kickstarts FTD could be connected to ALS patients. FTD symptoms include muscular spasms and weakness, difficulty controlling movement, and reduced coordination—which made researchers of the JAMA study believe the two conditions could possible lie on the same disease spectrum.
And sure enough, they were. A protein known as BNIP1 seemed to show a link between FTD and ALS. BNIP1 helps keep neurons functioning normally and promotes healthy development. BNIP1, which increases a patient’s risk for FTD, has also been shown to fall when the spinal cords of ALS patients are analyzed postmortem.
In other words, this pair of genetic connections with the BNIP1 and tau proteins could indicate that there is a link between the motor problems and simultaneous cognitive breakdown that many ALS patients experience.
It’s a big step in finally understanding the mysterious basis of a disease that has stumped medical researchers for decades. While seeing this link doesn’t mean we’re any closer to a cure for ALS, it could help us understand how the proteins and their genetic instructions could lead to a higher risk of ALS for some individuals, or why the double breakdown of cognition and motor neurons occurs. In the future, the two proteins could be targeted for therapies.
For the first time, the Food and Drug Administration (FDA) has authorized the release of an HIV treatment that does not have to be taken daily, giving people with multidrug resistant HIV infection a new treatment option they urgently need.
The agency’s groundbreaking action earlier this month permits pharmaceutical companies Theratechnologies and TaiMed Biologics to begin marketing their long-acting monoclonal antibody treatment Trogarzo to HIV-positive adults who are failing on their current antiretroviral regimens. As the first ever long-acting HIV treatment, Trogarzo is administered via intravenous infusion once every two weeks.
Phase three clinical trials found that the majority of patients taking Trogarzo, in combination with other HIV medicines, achieved at least a 70% reduction in viral load within seven days of their first dosage. Many of these patients began the study with extremely high viral loads and weakened immunity, but by the study’s end, saw significant increases in T-cell count.
Those infected with multidrug resistant HIV are at substantially increased risk for disease progression and HIV transmission to partners. Researchers, physicians, and patients have long been concerned with the lack of options to treat multidrug resistant HIV infection, which helped Trogarzo gain designation by the FDA as a breakthrough therapy with priority review status.
In a company press release, Luc Tanguay, Chief Executive Officer of Theratechnologies, emphasized the significance of this long-acting treatment for people infected with “difficult-to-treat” multidrug resistant HIV.
“We look forward to bringing this much-needed therapy to patients in the U.S. within six weeks,” said Tanguay. “We are grateful to the patients, investigators, as well as the FDA who supported the clinical development of Trogarzo, and are helping address this critical, unmet medical need.”
On average, patients in the clinical trial experienced approximately 98% reduction in viral load after taking Trogarzo for 24 weeks. About 25,000 people in the United States are infected with multidrug resistant HIV and, therefore, may be candidates for Trogarzo. Many of these patients have been treated with over ten antiretroviral drugs in the past.
Nelson Vergel, a participant in the clinical trial who began taking this medicine six years ago, hailed Trogarzo as a new “source of hope” and “peace of mind” that helped him reach an undetectable viral load after failing previous treatment regimens.
“I’ve struggled with multidrug resistant HIV for almost 30 years and it was completely debilitating to feel like I had run out of options - I made no long-term plans,” added Vergel. “I feel incredibly lucky to have been able to participate in the clinical trial program.”
Side effects of this new treatment – including rash, nausea, and diarrhea – occurred in less than 10% of trial participants and are remarkably mild compared to other HIV treatments. As the body’s immune system starts to improve, patients taking Trogarzo may begin to fight off infections that were previously hidden in the body, but doctors can help manage these symptoms.
After almost a decade in clinical trials, Trogarzo is also the first FDA-approved HIV treatment that uses antibodies to block the HIV virus from infecting T-cells. Edwin DeJesus, Medical Director of the Orlando Immunology Center where Trogarzo was tested, highlighted the efficacy of this new treatment mechanism in helping his patients.
“As a clinician,” said DeJesus, “I am excited that we will now have another option with a different mechanism of action for our heavily pretreated patients who are struggling to keep their viral load below detection because their HIV is resistant to multiple drugs.”
Over 10,000 people in the United States are failing their current HIV maintenance regimen and urgently need a new treatment to achieve viral suppression. For these individuals, Trogarzo is a breakthrough with the potential to halt HIV disease progression and the potential to even reverse immune system decline.
CVS Health is being sued for allegedly revealing the HIV status of some 6,000 people in Ohio.
According to a federal class-action suit, filed on March 21 by three unidentified patients, the company sent out letters last year that revealed the status of participants in the state’s HIV drug-assistance program through the clear window of the envelopes.
The letters included customers’ new benefits cards, as well as information about a mail prescription program. Fiserv, the company hired to mail the letters, is also named in the suit.
One plaintiff said he “feels that CVS has essentially handed a weapon to anyone who handled the envelope, giving them the opportunity to attack his identity or cause other harm to him,”
Another said he has concerns about the stigma related to being HIV-positive affecting not only himself, but also his friends and family. The third reported also experiencing “significant distress as a result of this disclosure,” especially living in a small town where “everyone knows everyone.”
Attorneys for the plaintiffs claim CVS failed to announce the privacy breach, and did not contact all the patients whose status was compromised.
A spokesperson for the pharmacy giant said that only a reference code for the assistance program, not the recipient’s HIV status, was intended to be visible in the windows, and that CVS will remove the code in future mailings.
“CVS Health places the highest priority on protecting the privacy of those we serve, and we take our responsibility to safeguard confidential information very seriously.”
Last year, Aetna was criticized for mailing out more than 12,000 letters that exposed information regarding HIV medications through envelope windows. Aetna agreed to pay more than $17 million to those affected and take steps to prevent future incidents.
The Centers for Disease Control and Prevention (CDC) in 2017 found more than 200 cases of "nightmare bacteria" that can resist most antibiotics, according to a new report released Tuesday.
The CDC has long warned about antibiotic-resistant bacteria, but the report shows that unusual resistance germs, which are resistant to all or most antibiotics tested and are uncommon or carry special resistance genes, are constantly developing and spreading.
According to the CDC, a nationwide lab found 1 in 4 germ samples had a gene that allowed them to spread their resistance to other germs.
One in 10 screening tests of patients were positive, meaning the unusual resistance may have spread to other patients and could have continued to spread if left undetected.
A top CDC official said the agency's containment strategy has helped slow the spread of antibiotic-resistance germs.
"Resistance genes with the capacity to turn regular germs into nightmare bacteria have been introduced into many states, but with an aggressive response, we've been able to stomp them out promptly," said Anne Schuchat, the CDC's principal deputy director.
Still, Schuchat said she was surprised by the spread of the germs.
"As fast as we have run to slow [antibiotic] resistance, some germs have outpaced us," Schuchat told reporters. "We've had some success, but it isn't enough to turn the tide. We need to do more and we need to do it faster and earlier."
More than 23,000 Americans die each year from infections caused by germs resistant to antibiotics, the CDC said.
The agency has developed a new system aimed at quickly identifying the superbugs, including helping staff at state health departments and lab facilities to test samples and isolate infected patients.
CDC noted that germs will continuously find ways to resist new and existing antibiotics, and "stopping new resistance from developing is not currently possible." The agency said it is working to keep resistance from spreading.
The gay hookup app Grindr, which has more than 3.6 million daily active users across the world, has been providing its users’ HIV status to two other companies, BuzzFeed News has learned.
The two companies — Apptimize and Localytics, which help optimize apps — receive some of the information that Grindr users choose to include in their profiles, including their HIV status and “last tested date.”
Because the HIV information is sent together with users’ GPS data, phone ID, and email, it could identify specific users and their HIV status, according to Antoine Pultier, a researcher at the Norwegian nonprofit SINTEF, which first identified the issue.
“The HIV status is linked to all the other information. That’s the main issue,” Pultier told BuzzFeed News. “I think this is the incompetence of some developers that just send everything, including HIV status.”
Grindr was founded in 2009 and has been increasingly branding itself as the go-to app for healthy hookups and gay cultural content. In December, the company launched an online magazine dedicated to cultural issues in the queer community. The app offers free ads for HIV-testing sites, and last week, it debuted an optional feature that would remind users to get tested for HIV every three to six months.
But the new analysis, confirmed by cybersecurity experts who analyzed SINTEF’s data and independently verified by BuzzFeed News, calls into question how seriously the company takes its users’ privacy.
"That is an extremely, extremely egregious breach of basic standards that we wouldn’t expect from a company that likes to brand itself as a supporter of the queer community."
“Grindr is a relatively unique place for openness about HIV status,” James Krellenstein, a member of AIDS advocacy group ACT UP New York, told BuzzFeed News.
“To then have that data shared with third parties that you weren’t explicitly notified about, and having that possibly threaten your health or safety — that is an extremely, extremely egregious breach of basic standards that we wouldn’t expect from a company that likes to brand itself as a supporter of the queer community."
SINTEF’s analysis also showed that Grindr was sharing its users’ precise GPS position, “tribe” (meaning what gay subculture they identify with), sexuality, relationship status, ethnicity, and phone ID to other third-party advertising companies. And this information, unlike the HIV data, was sometimes shared via “plain text,” which can be easily hacked.
“It allows anybody who is running the network or who can monitor the network — such as a hacker or a criminal with a little bit of tech knowledge, or your ISP or your government — to see what your location is,” Cooper Quintin, senior staff technologist and security researcher at the Electronic Frontier Foundation, told BuzzFeed News.
“When you combine this with an app like Grindr that is primarily aimed at people who may be at risk — especially depending on the country they live in or depending on how homophobic the local populace is — this is an especially bad practice that can put their user safety at risk,” Quintin added.
Grindr said that the services they get from Apptimize and Localytics help make the app better.
“Thousands of companies use these highly-regarded platforms. These are standard practices in the mobile app ecosystem,” Grindr Chief Technology Officer Scott Chen told BuzzFeed News in a statement. “No Grindr user information is sold to third parties. We pay these software vendors to utilize their services.”
Apptimize and Localytics did not respond to requests for comment. Chen said that these companies will not share users’ data: “The limited information shared with these platforms is done under strict contractual terms that provide for the highest level of confidentiality, data security, and user privacy.”
Even so, security experts say, any arrangement with third parties makes sensitive information more vulnerable.
“Even if Grindr has a good contract with the third parties saying they can’t do anything with that info, that’s still another place that that highly sensitive health information is located,” Quintin said. “If somebody with malicious intent wanted to get that information, now instead of there being one place for that — which is Grindr — there are three places for that information to potentially become public.”
Under the app’s “HIV status” category, users can choose from a variety of statuses, which include whether the user is positive, positive and on HIV treatment, negative, or negative and on PrEP, the once-daily pill shown to effectively prevent contracting HIV. (The app also links to a sexual health FAQ about HIV and how to get PrEP.)
But just because users are comfortable sharing personal information in their profile or chats doesn’t mean they want it being shared more broadly.
“Some people’s jobs may be in jeopardy if the wrong people find out about their status — or maybe they have difficult family situations,” said Chris Taylor of Seattle, who uses Grindr but no longer displays his HIV positive status on his profile. It’s “disconcerting,” he said, that Grindr is sharing this information with other companies. “It can put people in danger, and it feels like an invasion of privacy.”
But the average person may not know or understand what they’ve agreed to in the fine print. Some experts argue that Grindr should be more specific in its user agreements about how it’s using their data.
“What the law regards as informed consent is in almost all instances uninformed consent,” Ben Wizner, director of the ACLU Speech, Privacy, and Technology Project, told BuzzFeed News.
“I hope that one small silver lining here will be that users and citizens will realize that there are enormous loopholes in the privacy regime,” he said, “and that personal information is bought and sold freely on a global market.”