cloudy
Monday July 23rd, 2018 9:58AM

Kids with rare rapid-aging disease get hope from study drug

By The Associated Press
Related Articles
  Contact Editor

CHICAGO (AP) — Children with a rare, incurable disease that causes rapid aging and early death may live longer if treated with an experimental drug first developed for cancer patients, a study suggests.

The small, preliminary study isn't proof the drug works and it found only a small benefit: Treated children with the disease progeria were more likely than others to survive during the two-year study. But some kids taking the drug in this and other studies have lived into their late teens. Researchers and others say the results suggest a potential breakthrough for a heartbreaking condition that typically kills kids before they reach adulthood.

"Anything we can do to try to provide them hope of a longer life is well worth doing and well worth celebrating," said Dr. Francis Collins, director of the National Institutes of Health, who was not part of the new study. A geneticist, Collins led laboratory experiments that in 2003 identified the genetic basis for the disease, formally known as Hutchinson-Gilford progeria.

Among 27 children with progeria who got the drug lonafarnib, one died during the 2007-2010 study. That's compared with nine of 27 untreated children with the disease. Thirteen of the treated children are still alive; most began taking other experimental drugs too.

"For the first time ever we have a drug that is shown to extend lifespan for children with progeria," said lead author Dr. Leslie Gordon of Brown University. Her son was a study participant and died in 2014 at age 17.

The results were published Tuesday in the Journal of the American Medical Association.

The study, conducted at Boston Children's Hospital, was unusually designed, comparing children given the drug with other progeria patients worldwide who weren't enrolled in the study. The untreated kids were matched as closely as possible with study participants by age, gender and other characteristics, but they weren't a standard control group and didn't receive dummy medication.

That design weakens the study conclusions, said Dr. Howard Worman, a Columbia University biologist. "You really cannot say anything 'worked' without a contemporary placebo control."

The children in the study were also involved in earlier research testing the same drug combined with two others. Within a period of about five years, survival was extended by about 19 months. It wasn't clear if all three drugs or just one or two of them contributed to the improvement. Lonafarnib also appeared to reduce blood vessel damage.

Average life expectancy for progeria children is about 14 years. Though many die younger, usually from heart attacks or strokes, some lonafarnib-treated kids have lived to their late teens.

For parents, who want to see their children grow up, that sliver of extra time is a bittersweet blessing.

"If you're a mom and you're told that life expectancy is 13 years, that 1.6 years is gold," said Heather Unsinger. Her 7-year-old daughter, Carly, was a study participant and has been taking lonafarnib since age 3. "But it's really hard to jump up and down."

Affected children are typically small, bald and fragile-looking but intellectually normal. Carly "has full-throttle dreams" and envisions becoming an art teacher one day, her mom said.

Other kids "always think I'm a baby," Carly said. But "I'm a regular kid."

Progeria is caused by a mutation in a gene that regulates production of a protein that helps shape and support the nucleus of cells throughout the body. In normal aging, the protein accumulates in cells but in children with progeria, an abnormal buildup occurs that severely damages cells. Lonafarnib helps block that abnormal buildup.

The disease affects about 1 in 20 million people. It is a chance mutation and isn't inherited. Affected children are born looking healthy, but fail to grow normally, lose body fat and hair and develop aged-looking skin, stiff joints and diseased arteries.

Lonafarnib was initially developed as a potential cancer treatment but without much success. Schering Plough/Merck supplied the study drug; the research was paid for by the Progeria Research Foundation.

Gordon, the lead author, and her husband, Dr. Scott Berns, started the foundation in 1999 after their son, Sam, was diagnosed. She is continuing to study lonafarnib and other drugs in kids with progeria.

University of Washington geneticist Dr. Fuki Hisama predicted that lonafarnib will eventually become standard treatment for progeria, though not a cure.

The study "gives other people the message that there is hope for rare diseases," said Hisama, who wrote an accompanying journal editorial.

___

Follow AP Medical Writer Lindsey Tanner on Twitter at @LindseyTanner. Her work can be found here .

___

The Associated Press Health & Science Department receives support from the Howard Hughes Medical Institute's Department of Science Education. The AP is solely responsible for all content.

  • Associated Categories: U.S. News, Associated Press (AP), AP National News, Top U.S. News short headlines, AP Health, AP Health - Children's Health, AP Business, AP Health - Senior Health
© Copyright 2018 AccessWDUN.com
All rights reserved. This material may not be published, broadcast, rewritten, or redistributed without permission.
Senators delay VA confirmation hearing amid new allegations
Senate leaders delay confirmation hearing for President Donald Trump's pick to be Veterans Affairs secretary amid late-surfacing allegations about the nominee's workplace practices and growing questions about his ability to manage the agency
11:06AM ( 6 minutes ago )
US consumer confidence rebounds in April
US consumer confidence rebounds in April, index near 18-year high
11:02AM ( 9 minutes ago )
AP-NORC Poll: For many online Americans, Facebook is a habit
Nearly half of Americans who use the internet say they use Facebook at least several times a day, with Facebook-owned Instagram coming in No. 2 among social media sites
11:02AM ( 10 minutes ago )
Associated Press (AP)
The Latest: Suspected van driver charged in Canada deaths
A judge in Canada has ordered the 25-year-old man suspected of plowing a van into pedestrians in north Toronto detained on 10 counts of first-degree murder and 13 of attempted murder
10:27AM ( 45 minutes ago )
Mental health and guns an issue after Waffle House attack
The arrest of a suspect in the Waffle House attack leaves unanswered questions about official responses to months of bizarre behavior by a paranoid man with guns.
10:14AM ( 58 minutes ago )
Newcomer hopes for upset in race for Arizona's US House seat
A Democratic newcomer is looking to pull off an upset victory for an open U.S. House seat in Arizona that has been held by Republicans since the early 1980s
10:09AM ( 1 hour ago )
AP National News
Southwest has been faced with fines, union safety complaints
Until last week, Southwest Airlines had a string of 47 years without a passenger dying in an accident, but it has also paid millions in fines over safety
9:53AM ( 1 hour ago )
Cosby jury to decide: Serial rapist or con artist's mark
Bill Cosby's sexual assault retrial will soon be in the hands of a jury
9:20AM ( 1 hour ago )
The Latest: Cosby arrives at courthouse with wife Camille
Bill Cosby has arrived at a suburban Philadelphia courthouse for the 12th day of his sexual assault retrial, and closing arguments and deliberations are expected.
8:53AM ( 2 hours ago )
Top U.S. News short headlines
Prince charming: Kate gives birth to boy, home by suppertime
The Duchess of Cambridge has given birth to her third child, a newborn prince who is fifth in line to the British throne
3:36PM ( 19 hours ago )
European rights court rejects case on terminally ill toddler
The European Court of Human Rights has rejected a case from a British mother and father who want to take their terminally ill toddler to Italy for treatment instead of allowing a hospital to remove him from life support
11:22AM ( 23 hours ago )
Royal baby: It's a boy for Kate on England's national day
Royal officials say the Duchess of Cambridge has given birth to a healthy baby boy
9:54AM ( 1 day ago )
AP Health
4 Palestinians killed by Israeli fire in Gaza border protest
Gaza health officials say 4 Palestinians, including 15-year-old boy, killed by Israeli army fire as thousands join fourth weekly protests on Gaza border
1:40AM ( 3 days ago )
Israeli fire in new Gaza border protest kills 4 Palestinians
Israeli army fire kills 4 Palestinians, including a 15-year-old boy, health officials say, as thousands join fourth weekly protests on Gaza border
7:29PM ( 3 days ago )
The Latest: 2 more Palestinian protesters killed in Gaza
Gaza Health Ministry says two more Palestinians, including a 15-year-old boy, have been killed by Israeli army fire on the Gaza border
12:22PM ( 3 days ago )
AP Health - Children's Health
Caterpillar 1Q profit surges on equipment sales
Caterpillar 1Q profit surges on boost in construction, energy sector equipment sales
10:37AM ( 34 minutes ago )
Consumer confidence rebounds in April
Consumer confidence rebounds in April, index near 18-year high
10:21AM ( 51 minutes ago )
Earnings reports lift stocks; 10-year yield hits 3 percent
US stocks are rising as strong reports from companies including Caterpillar and Whirlpool put investors in a buying mood
10:08AM ( 1 hour ago )
AP Business
'60 Minutes' report details progression of Alzheimer's
A sobering '60 Minutes' report filmed over a decade shows the toll that Alzheimer's disease takes on a wife and husband in New York
4:12PM ( 4 days ago )
New way of defining Alzheimer's aims to find disease sooner
Scientists propose new way to define Alzheimer's disease using biological signs, such as brain changes, not just memory loss and other symptoms
12:21AM ( 2 weeks ago )
Gastineau pleads for Goodell to help him, ailing NFL players
Former New York Jets star Mark Gastineau made an emotional plea to NFL Commissioner Roger Goodell to help former players like him who are dealing with football-related health issues
10:01PM ( 1 month ago )
AP Health - Senior Health
Senators delay VA confirmation hearing amid new allegations
Senate leaders delay confirmation hearing for President Donald Trump's pick to be Veterans Affairs secretary amid late-surfacing allegations about the nominee's workplace practices and growing questions about his ability to manage the agency
11:06AM ( 6 minutes ago )
US consumer confidence rebounds in April
US consumer confidence rebounds in April, index near 18-year high
11:02AM ( 9 minutes ago )
AP-NORC Poll: For many online Americans, Facebook is a habit
Nearly half of Americans who use the internet say they use Facebook at least several times a day, with Facebook-owned Instagram coming in No. 2 among social media sites
11:02AM ( 10 minutes ago )
Toronto driver charged with 10 counts of 1st degree murder
A court has ordered the 25-year-old who plowed a van into a crowded Toronto sidewalk to be held on 10 counts of murder and 13 of attempted murder
10:56AM ( 15 minutes ago )
Academic says suspended Cambridge Analytica CEO lied
A Cambridge University professor at the heart of the Facebook privacy scandal says that the suspended CEO of data firm Cambridge Analytica lied to a British parliamentary committee investigating fake news
10:50AM ( 22 minutes ago )