logo
Desperately ill baby healed with personalized gene therapy, doctors say

Desperately ill baby healed with personalized gene therapy, doctors say

CBC15-05-2025

A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him, according to the doctors who treated him.
Researchers described the case in a new study, saying he's among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his genetic code that kills half of the infants with the rare disease. Though it may be a while before similar personalized treatments are available for others, doctors hope the technology can someday help the millions left behind even as genetic medicine has advanced because their conditions are so rare.
"This is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments," said Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert who co-authored the study published Thursday in the New England Journal of Medicine.
The baby, KJ Muldoon of Clifton Heights, Penn., is one of 350 million people worldwide with rare diseases, most of which are genetic. He was diagnosed shortly after birth with severe CPS1 deficiency, estimated by some experts to affect around one in a million babies.
Those infants lack an enzyme needed to help remove ammonia from the body, so it can build up in their blood and become toxic. A liver transplant is an option for some.
Knowing KJ's odds, parents Kyle and Nicole Muldoon, both 34, worried they could lose him.
"We were, like, you know, weighing all the options, asking all the questions for either the liver transplant, which is invasive, or something that's never been done before," Nicole said.
"We prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go," her husband added.
Within six months, the team at Children's Hospital of Philadelphia and Penn Medicine, along with their partners, created a therapy designed to correct KJ's faulty gene. They used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020. Instead of cutting the DNA strand like the first CRISPR approaches, doctors employed a technique that flips the mutated DNA "letter" — also known as a base — to the correct type. Known as "base editing," it reduces the risk of unintended genetic changes.
It's "very exciting" that the team created the therapy so quickly, said gene therapy researcher Senthil Bhoopalan at St. Jude Children's Research Hospital in Memphis, who wasn't involved in the study. "This really sets the pace and the benchmark for such approaches."
In February, KJ got his first IV infusion with the gene editing therapy, delivered through tiny fatty droplets called lipid nanoparticles that are taken up by liver cells.
WATCH | Gene therapy for sickle cell:
U.K. approves world's first gene therapy treatment for sickle cell
1 year ago
Duration 2:03
While the room was abuzz with excitement that day, "he slept through the entire thing," recalled study author Dr. Rebecca Ahrens-Nicklas, a gene therapy expert at CHOP.
After follow-up doses in March and April, KJ has been able to eat more normally and has recovered well from illnesses like colds, which can strain the body and exacerbate symptoms of CPS1. The nine-and-a-half-month old also takes less medication.
Considering his poor prognosis earlier, "any time we see even the smallest milestone that he's meeting — like a little wave or rolling over — that's a big moment for us," his mother said.
Still, researchers caution that it's only been a few months. They'll need to watch him for years.
"We're still very much in the early stages of understanding what this medication may have done for KJ," Ahrens-Nicklas said. "But every day, he's showing us signs that he's growing and thriving."
Opens door to advances in other rare diseases
Researchers hope what they learn from KJ will help other rare disease patients.
Gene therapies, which can be extremely expensive to develop, generally target more common disorders in part for simple financial reasons: more patients mean potentially more sales, which can help pay the development costs and generate more profit. The first CRISPR therapy approved by the U.S. Food and Drug Administration, for example, treats sickle cell disease, a painful blood disorder affecting millions worldwide.
Musunuru said his team's work — funded in part by the U.S. National Institutes of Health — showed that creating a custom treatment doesn't have to be prohibitively expensive. The cost was "not far off" from the $800,000 US-plus for an average liver transplant and related care, he said.
"As we get better and better at making these therapies and shorten the time frame even more, economies of scale will kick in and I would expect the costs to come down," Musunuru said.
Scientists also won't have to redo all the initial work every time they create a customized therapy, Bhoopalan said, so this research "sets the stage" for treating other rare conditions.
Carlos Moraes, a neurology professor at the University of Miami who wasn't involved with the study, said research like this opens the door to more advances.
"Once someone comes with a breakthrough like this, it will take no time" for other teams to apply the lessons and move forward, he said. "There are barriers, but I predict that they are going to be crossed in the next five to 10 years. Then the whole field will move as a block because we're pretty much ready."

Orange background

Try Our AI Features

Explore what Daily8 AI can do for you:

Comments

No comments yet...

Related Articles

Intelligent Bio Solutions (NASDAQ: INBS) Showcases Portable Drug Testing System at RISE25
Intelligent Bio Solutions (NASDAQ: INBS) Showcases Portable Drug Testing System at RISE25

Globe and Mail

time2 hours ago

  • Globe and Mail

Intelligent Bio Solutions (NASDAQ: INBS) Showcases Portable Drug Testing System at RISE25

The company's non-invasive fingerprint drug screening system uses fingerprint sweat to screen for drugs such as cannabis, cocaine, methamphetamine, and opiates. Results are available in under ten minutes, supporting faster, on-site decision-making in treatment and justice settings. INBS is pursuing FDA approval and further entry into the U.S. market, where it currently operates in a Forensic Use Only capacity. The company has over 450 active accounts in 24 countries, targeting sectors such as healthcare, justice, and workplace safety. INBS partnered with SMARTOX, a U.S. distributor, to connect with stakeholders in criminal justice and addiction recovery. Intelligent Bio Solutions (NASDAQ: INBS), a medical technology company specializing in rapid, non-invasive testing solutions, recently attended the RISE25 conference to demonstrate its portable Intelligent Fingerprint Drug Screening System, continuing its push into the U.S. market for rapid, non-invasive screening technologies ( The event, held May 28–31 in Florida, attracted over 7,000 professionals from the fields of addiction treatment, mental health, and criminal justice. The conference has become a national gathering point for… Read More>> NOTE TO INVESTORS: IBN is a multifaceted financial news, content creation and publishing company utilized by both public and private companies to optimize investor awareness and recognition. For more information, please visit Please see full terms of use and disclaimers on the InvestorBrandNetwork website applicable to all content provided by IBN, wherever published or re-published: Corporate Communications

Insider Buying and Options Surge Spark Bullish Interest in UnitedHealth (UNH)
Insider Buying and Options Surge Spark Bullish Interest in UnitedHealth (UNH)

Globe and Mail

time3 hours ago

  • Globe and Mail

Insider Buying and Options Surge Spark Bullish Interest in UnitedHealth (UNH)

UnitedHealth Group (UNH) is drawing attention from traders after a spike in call option activity and notable insider buying. Despite the stock being down nearly 40% year-to-date, a weaker-than-expected Q1 earnings report, and a softer outlook, recent activity suggests growing confidence in a potential recovery. Confident Investing Starts Here: Heightened Activity Signals Bullish Sentiment On Thursday, more than 162,000 call options were traded on UNH. That's a 29% jump compared to the stock's typical daily call volume of around 126,000. This level of activity often reflects bullish expectations from traders anticipating upward price movement. Insiders are also showing conviction. On May 14, Director John H. Noseworthy purchased 300 shares at an average price of $312.16. Six days later, CEO Stephen Hemsley bought 86,700 shares at an average of $288.57 per share, totaling over $25 million. In total, insiders have acquired 109,408 shares over the past 90 days, worth approximately $31.6 million. Insider buying of this scale often signals confidence in long-term value. Institutional investors have also been increasing their exposure to these assets. Vanguard, Wellington Management, and Norges Bank all added to their positions last quarter. Institutional ownership now stands at 87.9%, highlighting continued support from long-term holders. Stock Rebounds Slightly as Fundamentals Show Mixed Signals The stock closed Friday at $303.22, up 2.49% on the day. It remains far below its 52-week high of $630.73 and just above the recent low of $248.88. At current levels, UNH has a market cap of about $275 billion, a P/E ratio of 14.11, and a dividend yield of 2.84%. The company recently raised its quarterly dividend to $2.21 per share. UnitedHealth posted Q1 revenue of $109.6 billion, slightly below consensus estimates. Earnings per share came in at $7.20, missing expectations of $7.29. While analysts still expect full-year EPS of $29.54, several firms have lowered their price targets in response to the softer results and rising sector concerns. Options market data reinforces the bullish tilt. The put/call ratio is 0.48, indicating more call buying than put buying. This ratio suggests traders are positioning for a potential rebound in the near term. In summary, while UnitedHealth continues to face pressure from weaker earnings and macroeconomic headwinds, the surge in call option activity, insider buying, and strong institutional support indicate renewed investor interest. Is UNH a Good Stock to Buy Right Now? According to The Street's analysts, UnitedHealth is a Moderate Buy. The average UNH price target is $369.73, implying a 21.93% upside. See more UNH analyst ratings Disclaimer & Disclosure Report an Issue

Microbot Medical Continues to Strengthen Commercial Capabilities in Preparation for the anticipated Q3 2025 Launch of its LIBERTY® Endovascular Robotic System
Microbot Medical Continues to Strengthen Commercial Capabilities in Preparation for the anticipated Q3 2025 Launch of its LIBERTY® Endovascular Robotic System

Globe and Mail

time3 hours ago

  • Globe and Mail

Microbot Medical Continues to Strengthen Commercial Capabilities in Preparation for the anticipated Q3 2025 Launch of its LIBERTY® Endovascular Robotic System

HINGHAM, Mass., June 09, 2025 (GLOBE NEWSWIRE) -- Microbot Medical Inc. (Nasdaq: MBOT), developer of the innovative LIBERTY Endovascular Robotic System, today announced the continued expansion of its commercial team in preparation for the anticipated U.S. launch of the LIBERTY System, which is projected during the third quarter of 2025. The Company remains actively engaged with the U.S. Food and Drug Administration (FDA), with a 510(k) decision now expected during the third quarter of this year. This updated FDA decision timeline remains within the FDA's original scheduled review window and is not expected to affect the Company's planned launch upon clearance. 'Our recent interactions with the FDA have been productive, and we remain confident in the process and outcome,' said Harel Gadot, Chairman, CEO & President. 'We continue to operate with full momentum and position the Company for an anticipated launch during the third quarter of this year, which includes the continued build out of our commercial infrastructure and preparing the organization to deliver on our strategy.' As part of the Company's ongoing launch preparation, it recently expanded its commercial team with the addition of Michael Lytle as the head of Sales Operations & Analytics. Mr. Lytle brings deep experience in sales support, data analysis, and operational excellence. He is expected to play a key role in shaping market intelligence tools and processes to optimize the sales cycle and drive strategic growth. Prior to joining Microbot, Mr. Lytle held increasing leadership roles at ZOLL Cardiac Management Solutions (CMS), a division of ZOLL Medical Corporation, where he supported the rollout of innovative cardiac care technologies. 'We believe that Michael's addition will strengthen our launch readiness plans, and that his expertise will help us target the right markets, allocate resources effectively, and accelerate commercial execution,' concluded Mr. Gadot. The LIBERTY System is currently under FDA review, is not available for sales in the US, and clearance is not guaranteed. About Microbot Medical Microbot Medical Inc. (NASDAQ: MBOT) is a pre-commercial stage medical technology company with a vision to redefine endovascular robotics and improve the quality of care for millions of patients and providers globally. The Company has developed the world's first single-use, fully disposable endovascular robotic system, which aims to eliminate traditional barriers to accessing advanced robotic systems. Further information about Microbot Medical® is available at Safe Harbor Statements to future financial and/or operating results, future growth in research, technology, clinical development, commercialization and potential opportunities for Microbot Medical Inc. and its subsidiaries, along with other statements about the future expectations, beliefs, goals, plans, or prospects expressed by management, constitute forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995 and the Federal securities laws. Any statements that are not historical fact (including, but not limited to statements that contain words such as 'will,' 'believes,' 'plans,' 'anticipates,' 'expects' and 'estimates') should also be considered to be forward-looking statements. Forward-looking statements involve risks and uncertainties, including, without limitation, the Company's need for and ability to obtain additional working capital to continue its transition to a commercially focused company, market conditions, risks inherent in the development and/or commercialization of the LIBERTY® Endovascular Robotic System, uncertainty in the results of regulatory pathways and regulatory approvals, including whether the FDA will timely grant 510(k) clearance to commercially market the LIBERTY® Endovascular Robotic System in the United States if at all, uncertainty resulting from political, social and geopolitical conditions, particularly any changes in personnel or processes or procedures at the FDA and announcements of tariffs on imports into the U.S., disruptions resulting from new and ongoing hostilities between Israel and the Palestinians and other neighboring countries, and maintenance of intellectual property rights. Additional information on risks facing Microbot Medical® can be found under the heading 'Risk Factors' in Microbot Medical's periodic reports filed with the Securities and Exchange Commission (SEC), which are available on the SEC's web site at Microbot Medical® disclaims any intent or obligation to update these forward-looking statements, except as required by law

DOWNLOAD THE APP

Get Started Now: Download the App

Ready to dive into the world of global news and events? Download our app today from your preferred app store and start exploring.
app-storeplay-store