This rare genetic disorder was just treated in the womb for the first time ever
Spinal muscular atrophy is a genetic condition set in motion before birth that causes worsening muscle weakness. There are four types of the disorder, each with varying degrees of severity. However, for those with the most common and severe form, children typically do not live past age 2.
There is no cure, but treatment can help to manage symptoms and prevent complications.
The child's mother was given the drug risdiplam, which is the first oral medication approved to treat the progressive neurodegenerative disorder by the Food and Drug Administration. It is manufactured by Swiss biotech firm Roche.
'Our primary objectives were feasibility, safety and tolerability, so we're very pleased to see that the parent and child are doing well,' Dr. Richard Finkel, the director of the St. Jude Center for Experimental Neurotherapeutics, said in a statement. Scientists at St. Jude Children's Research Hospital led the first in utero treatment. 'The results suggest it would be worthwhile to continue investigating the use of prenatal intervention for SMA.'
Finkel was the corresponding author of the research which was published Wednesday in a letter to the New England Journal of Medicine.
Until now, treatments were given after birth.
'There was still room for improvement,' Finkel told Nature on Thursday.
This progress came about by understanding the cause of spinal muscular atrophy.
Approximately one in every 6,000 babies is born with the disorder. The research hospital noted in a release that it is caused by a lack of survival motor neuron protein. The protein is essential because it enables muscles to receive signals from the nerves, according to Johns Hopkins Medicine. The absence of the protein occurs in around one in every 11,000 births in the U.S. The drug works by helping produce more of the protein.
Because the protein is most needed in the third trimester of fetal development and the first three months of life after birth, St. Jude's says that symptom severity is closely linked with intervention time. So, they launched the clinical protocol to study risdiplam in a single patient. The Food and Drug Administration approved the study.
The parents of the patients had a prior infant born with Type 1 and were known carriers of genetic variants. Testing confirmed that their child would likely be born with Type 1. The idea of giving the drug in utero came from the parents, and doctors gave the mother the drug within the final six weeks of her pregnancy.
After her birth, the baby was diagnosed with several abnormalities that are considered to have occurred before exposure to the drug. She started taking it at a week old and will likely continue to take it for the rest of her life.
They are continuing to monitor her periodically at the research center.
'During the course of the assessment, we really have seen no indication of any signs of SMA,' Finkel said.
Hashtags
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
NBC News
8 minutes ago
- NBC News
James Van Der Beek says cancer journey likely to 'be a process for the rest of my life'
After being diagnosed with colon cancer in 2023, James Van Der Beek has learned that living with the disease is a 'full-time job.' He's made countless lifestyle changes to support his health, from stretching more and practicing yoga, to trying out the keto diet, and finding 'the beauty of just taking things a little bit more slowly and prioritizing rest and really allowing that to be the job,' he tells As far as his status with his cancer battle and the road ahead, he says: 'I'm just on the journey. ... It's a process. It'll probably be a process for the rest of my life.' The 'Dawson's Creek' alum has continued to work since his diagnosis, starring in the upcoming TV series, 'Elle,' about the high school years of the 'Legally Blonde' character. 'The greatest thing about work is a cancer doesn't exist between action and cut,' he says. 'It was fun to drop in and just have a blast because it's such a great cast, a great production, and everybody out there is really talented.' Van Der Beek is opening up about his colon cancer to increase awareness of the importance of early detection, especially as more people under 50 are being diagnosed. He's a paid spokesperson for Guardant Health, which offers a blood test to screen for colon cancer, approved by the Food and Drug Administration in July 2024. While the father of six experienced bowel changes, which led him to undergo a colonoscopy, he stressed the importance of following colon cancer screening guidelines, regardless of whether you have symptoms. People with average risk should start screening at 45, per the American Cancer Society, and those with increased risk should start earlier. 'I got screened at 46,' Van Der Beek says. 'I didn't realize they had dropped it to 45. I thought I was way ahead of the game.' 'Even just the slightest little change, it could be something, but ... don't think that not having symptoms means you don't have to get screened, especially for something that is this curable when caught early,' he continues. 'That's really what I want to get across.' 'I ate as well as I could. I was healthy. I was an amazing cardiovascular shape,' he adds. 'There was no reason in my mind that I should have gotten a positive diagnosis.' Since speaking out about his diagnosis, Van Der Beek has heard many times that he's helped others, from fans and the people in his community alike. 'Guys I see at the gas station, people come up to me at a coffee shop, I appreciate it every time,' he recalls.
Yahoo
an hour ago
- Yahoo
High Noon Just Recalled Thousands Of 12-Packs Mislabeled As Celsius Energy Drinks
After seeing the effects of caffeine and alcohol in a Four Loko, the US Food and Drug Administration banned production of drinks containing both. However, while caffeine and alcohol are both involved, High Noon's recall of thousands of its products and Celsius Energy Drink 12-packs is a little different thanks to a labeling error. On July 29, 2025, High Noon issued a voluntary recall of two production lots of its Beach Variety 12-ounce 12-packs. But what makes this recall unique is that a packaging supplier mistake also roped in Celsius Energy Drink, owned by Celsius Holdings. It's common for drink producers to share suppliers who actually manufacture and distribute cans to factories. Per High Noon's announcement, the supplier accidentally sent empty cans for Celsius's Astro Vibe Sparkling Blue Razz drink to High Noon, which were then filled with vodka seltzer. Factory workers then mistakenly added these mislabeled cans to Beach Variety 12-packs, risking accidental alcohol consumption for consumers who may not have noticed. While hard seltzers occupy a murky area of alcohol classification between the FDA, Alcohol and Tobacco Trade and Tax Bureau, and the Federal Alcohol Administration Act, mislabeling of any product is a serious issue, especially when alcohol is involved. While this recall is not quite as serious for the general public as a Class One recall of foodstuffs, recent purchasers of High Noon Beach Variety 12-packs should take steps to ensure their products do not fall under the recall. Read more: 6 Inexpensive Tequilas To Buy And 6 To Avoid, According To Bartender How To Identify Recalled High Noon And Celsius Energy Drinks While most alcohol vendors and grocery stores throw out recalled food, it still may be on the consumer to determine if they have a mislabeled product. Though the recall only affects Florida, Michigan, New York, Ohio, Oklahoma, South Carolina, Virginia, and Wisconsin, anyone who purchased a High Noon Beach Variety Pack recently or may consume a Celsius Astro Vibe Sparkling Blue Razz energy drink should carefully evaluate the packaging. This is especially true for anyone under the legal drinking age, may be pregnant, or who abstains from alcohol. Universal Product Codes (UPC) are retail codes used to track sales of a specific inventory item, but they also help in situations like this. In its announcement, High Noon said the UPC for affected High Noon packages is 085000040065 and the UPC for affected Celsius packages is 8 89392 00134 1. Lot Codes denote specific batches that use the same materials and are great for helping companies determine which products may be affected by recalls. See High Noon's announcement on the FDA website for the lot codes. If you can't determine if your product is affected by the codes, the unique situation of this recall created an obvious physical indicator. While normal Sparkling Blue Razz flavored drinks have a black lid, affected batches have the silver lid found on High Noon cans. To avoid drinking a mislabeled beverage, avoid any can of this flavor that does not have the correct color of lid. Want more food knowledge? Sign up to our free newsletter where we're helping thousands of foodies, like you, become culinary masters, one email at a time. Read the original article on Food Republic. Solve the daily Crossword
Washington Post
7 hours ago
- Washington Post
High Noon recalls vodka seltzers mislabeled as Celsius energy drinks
Popular alcohol brand High Noon issued a voluntary recall of a batch of its variety 12-packs after discovering that some of them contained vodka seltzer mislabeled as Celsius energy drinks. The Food and Drug Administration issued a recall notice Wednesday, warning that the sparkling blue razz flavor of the Astro Vibe energy drink may contain vodka and cause 'unintentional alcohol ingestion.' No illnesses or deaths have resulted so far from the mishap, it said.
