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Entries in Progeria (5)

Wednesday
Sep262012

Progeria: Drug Raises Hope for Rapid-Aging Disease

Courtesy Scott Mundro(BOSTON) -- Megan Nighbor turned 12 in June, but a rare disease gives her the bones, blood vessels and look of an 80-year-old.

Nighbor has progeria, a disease that speeds up the aging process.  It is thought to affect fewer than 250 children worldwide.  Nighbor is one year shy of the average life expectancy for progeria patients, most of whom die from strokes or heart attacks at age 13.

But a new drug, originally developed for cancer patients, could help her outlive the odds.

In the first-ever clinical trial for progeria patients, the drug lonafarnib reversed some of the blood vessel changes that cause deadly cardiovascular disease in these pint-size patients.  There were also improvements in body weight, bone strength and hearing.

"Does it mean these kids will live longer?  We can only know that with time," said trial leader Dr. Mark Kieran, director of pediatric medical neuro-oncology at Boston Children's Hospital and Dana Farber Cancer Institute.  "But the fact that we were able to make major changes in the cardiavascular parameters known to be the major cause of death for these kids is pretty exciting."

Twenty-eight progeria patients traveled to Boston from all over the world to participate in the trial.

"At the time, that was about 75 percent of the world's known population," said Kieran, describing the challenge of recruiting enough patients to study such a rare disease.  "The ability to bring all the kids here, although expensive and complicated for both us and the families, really allowed us to do this."

The trial results, published Tuesday in the Proceedings of the National Academy of Sciences, come less than a decade after the genetic cause of progeria was discovered.

"It's very gratifying to see evidence of a benefit in this drug trial for kids with this extremely rare disease, and to see it happen so quickly after we found the cause," said Dr. Francis Collins, director for the National Institutes of Health in Bethesda, Md., who in 2003 uncovered the single mutation in human DNA that causes progeria.  That's like finding a single spelling error in a book three billion words long.

But the trial might never have happened if it weren't for the Progeria Research Foundation, a non-profit founded in 1999 by Drs. Leslie Gordon and Scott Berns, whose son Sam was diagnosed with the disease.

"Like any parent, we dropped everything," said Gordon, a neuroimmunologist by training who promptly became an expert on progeria.  "We quickly discovered there was nothing going on for progeria -- no place for families to go for information, no place for physicians to go to learn how to care for these kids, essentially no hope because no one was taking any action."

The foundation swiftly raised awareness and funds for groundbreaking research, including the 2003 genetic study co-authored by Gordon and Collins.

"Once we found the gene mutation, we didn't have a treatment but we had hope," said Gordon, explaining how the gene defect, which causes a toxic buildup of the abnormal protein progerin, opened the door to treatments.  "It didn't seem as unreachable anymore."

Gordon then teamed up with Kieran, who at the time was testing lonafarnib in pediatric cancer patients.  The drug helps keep progerin out of the membranous walls of the nucleus -- the cellular control room that guards the body's DNA blueprint.

"Eventually the membrane gets so heavy that it collapses and the cell stops working," said Kieran, explaining how progeria progressively kills the body's cells.

"The ability to repurpose a drug that was actually developed for cancer and turned out to have the right properties for this aging disease was key," said Collins of the quick transition from bench science to bedside treatments.  "If you can teach an old drug a new trick, you're a lot closer to the answer than if you're starting from scratch."

Copyright 2012 ABC News Radio

Wednesday
Apr112012

Teaching Old Drugs New Tricks for Rare Diseases

TedMed(WASHINGTON) -- Sam Burns of Boston is a ninth-grader stuck in an 80-year-old man’s body. He has progeria, a rare disease that has aged his body faster than his mind. Although his condition limits him physically, he says there’s nothing he puts his mind to that he can’t do.

“When there is something I really want to do that Progeria gets in the way of, like marching band or umpiring, we always find a way to do it,” Sam told a crowd of nearly 1,500 people at the annual TedMed conference Wednesday in Washington, D.C.

So don’t think for a second that you can tell Sam there’s no treatment for his condition.

Although research for any treatment for any rare disease, including progeria, has been slow going, the message for researchers who are trying to knock out rare diseases might be this: Don’t start from scratch.

Indeed, the drug treatment that has shown promise for progeria was not developed for progeria, but for cancer. And the same might be true for other rare diseases. Drugs that once looked promising for prominent diseases such as cancer are increasingly being repurposed to treat unrelated rare diseases, and they’re actually working, Dr. Francis Collins, director of the National Institutes of Health, told the TedMed crowd.

Sam is being treated by a drug called Farnesyltransferase inhibitors, which is considered a cancer treatment. But the drug might also mask the gene mutation that’s associated with progeria.

The repurposing of drugs that may have failed clinical trials for one type of disease, but have shown promise in others will help get more rare diseases treatments out to the public, and out faster, according to Collins.

“It’s a win for company, because they have a product that can give them something rather than a dead end drug that has failed,” Collins told ABC News. “And it’s a win for the public. It’s the answer diseases that wouldn’t otherwise been looked at so quickly.”

Sam said participating in clinical trials is his contribution toward helping researchers find the right treatment, which might come in the form of a drug’s second wind.

“Research on progeria has come so far in less than 15 years, and that just shows the drive that researchers can have,” Sam said. “If that drive exists, anyone can cure any disease.”

Copyright 2012 ABC News Radio

Thursday
Mar082012

Progeria Teen Recounts Life With Accelerated-Aging Disease

Accent Press Ltd(BOSTON) -- When she celebrated her 14th birthday Dec. 3, 2011, Hayley Okines had surpassed the average lifespan for someone born with progeria, the rare disorder that turns children old before they reach adolescence.

Because progeria ages the body at eight times the normal rate, Hayley's skin is thin and papery, her bones fragile and her organs threatened by diseases typically associated with the elderly. Progeria patients die from heart attacks or strokes at an average age of 13, a number that carried extra weight for Hayley because doctors had told her parents she'd "only live to thirteen," the British teen recalls in a new book, Old Before My Time: Hayley Okines' Life With Progeria.

The disease, which takes its name from the Greek word "progeros," meaning prematurely old, involves a mutant protein called progerin that accelerates physical aging, but leaves intellect intact. In the book, Hayley's fantasy of meeting pop idol Justin Bieber (realized in a 13th-birthday surprise fostered by her Twitter followers) and her attitude about school ("I hate school. The work is pointless.") make clear she's a pretty regular teen in most respects.

Yet, she cannot help feeling different. She's smaller than her younger siblings, wears bandannas to cover a bare scalp and can't find school uniforms to fit her tiny frame. "Mum says I am one in eight million because my condition is so rare," she says.

Hayley, of Bexhill, England, is among 89 children in 32 countries living with progeria, according to the "Find the Other 150" campaign, which is trying to identify all of the estimated 150 children with the disease. Unlike most of them, Hayley has grown up in the spotlight, the subject of British television documentaries with titles such as The Girl Who Is Older than Her Mother, and news stories tracking her participation in clinical trials at Children's Hospital Boston and the nearby Dana-Farber Cancer Institute. She has numerous followers of her Facebook page, Web page and Twitter posts. She's swum with dolphins in the south of France, toured the Egyptian pyramids and met with such notables as Prince Charles.

She's among three progeria patients featured in an ABC special with Barbara Walters, 7 Going on 70, which will have an encore showing Saturday at 10 p.m. ET. Two U.S. girls interviewed for that program, Lindsay Ratcliffe, now 8, of Flat Rock, Mich., and Kaylee Halko, also 8, of Monclova, Ohio, are thriving and looking forward to participating in the next planned clinical trial in Boston, their mothers told ABC News.

Hayley's book, co-written by her mother, with each contributing separate chapters, demonstrates that by any measure, Hayley leads an extraordinary life. The blue-eyed baby who wasn't growing or gaining weight as quickly as other infants still took her first steps at 10 months and was having conversations by 18 months. "She definitely seemed much wiser and more inquisitive than other 20-month-old toddlers," her mother writes.

Her parents were crushed when Hayley was diagnosed with Hutchinson-Gilford progeria syndrome. But Hayley has had the good fortune to grow up at a time when science might provide her with a better, longer life than patients diagnosed in previous decades.

"Before 1999, doctors would say there's nothing out there, and nothing you can do," said Audrey Gordon, executive director of the Progeria Research Foundation in Peabody, Mass., created to help patients and their families and to fund research into treatments and an eventual cure. "That answer wasn't acceptable to us as a family."

Gordon's sister and brother-in-law, Drs. Leslie Gordon and Scott Berns, established the foundation after their son, Sam, was diagnosed with progeria in 1999. Leslie Gordon serves as the foundation's medical director; Berns, its board chairman.

The foundation supported research that led to the discovery in 2003 of the mutant gene responsible for progerin, the protein in progeria that makes cells stop growing and die. It has funded the human trials of drugs targeting that protein.

Beginning with forming a foundation in 1999, discovering the gene in 2003 and launching treatment trials in 2007, "we are moving at a pace that's virtually unheard of in the scientific community," Gordon said.

When Hayley came to Boston for that first clinical trial in 2007, she dreamed of "long hair that I could tie back in a pink hair band." At first, the experimental drug called lonafarnib made her terribly sick, and her parents wondered "had we made the biggest mistake of our lives?" her mother recalls.

Hayley didn't get the hoped-for lush tresses, but some of her eyebrow hairs grew back.

Since participating in a three-drug trial of lonafarnib, cholesterol-fighting pravastatin and the osteoporosis drug zoledronate, Hayley's cheeks look fuller, her skin healthier and a CT scan of her heart showed no deterioration of her arteries, her mother reported.

Hayley's on board for a four-drug trial that adds everolimus, which in preliminary resarch enhanced cells' ability to get rid of progerin. "This is a new avenue for attacking progerin and we are encouraged by its potential," Dr. Leslie Gordon said in an email.

Hayley says that because of the drugs, "I feel like I have a future to plan. I think that maybe when I grow up, I will get married. Mum says it will have to be someone very special to see beyond my progeria."

Toward the book's end, Kerry Okines reiterates her conviction that Hayley "will be the one child to prove the experts wrong, and so far I seem to be right."

Copyright 2012 ABC News Radio

Friday
Jul152011

Rare Disease Doesn't Keep Boy from Baseball Field

At 7 years old, Josiah Viera is just 27 inches tall and weighs 15.5 pounds; however, his size doesn't limit his love for his favorite sport. (ABC News)(HEGINS, Pa.) -- At 7 years old, Josiah Viera is just 27 inches tall and weighs 15.5 pounds; however, his size doesn't limit his love for his favorite sport.

"Baseball makes me happy," he said. "I like real baseball because I like to run the bases."

Josiah suffers from progeria, a genetic disease that causes accelerated aging in children. Its name, of Greek origin, means "prematurely old." Incurable, progeria is among the rarest diseases on Earth and affects roughly one in 4 million.

Dr. Colleen Walsh, who treats Josiah, said it was hard to tell how old his body is.

"About one year was equal to about 10 years," Walsh said. "Josiah's looking at being between an average 60- to 70-year-old."

Doctors told Josiah's mother that his life expectancy was between eight and 13 years.

"It's hard to explain," said Josiah's mother, Jennifer Viera. "Being a mom or a parent and knowing that potentially you're going to outlive your child."

In the spring of 2010, Josiah told the Little League team in his hometown of Hegins, Pa., that it was his dream to play baseball.

"He came over, looked straight at me," said Sam Bordner, Josiah's T-ball head coach. "Now what are you going to say to a little kid like that? So I just looked at him and I told him: 'Look, you know we're gonna let you play.'"

Josiah played one game of baseball that May. He cried when the game ended.

"Josiah took his hat and pulled it down over his face," Bordner said in a home video. "All I seen was two tears running down both sides of his nose...He said, 'I don't want it to be over.'"

Even though his doctors and family were unsure whether his body could make it through that one ballgame, Josiah went on to play in four. By then news of him playing had spread, so when the final game of the season arrived nearly 1,000 spectators turned out to watch.

"He loves the game for the game," said Josiah's grandfather Dave Bohner. "Not win or lose -- it's just love. It's just to swing the bat, hit the ball and run the base."

This season, Josiah returned to play on the Little League field in Hegins.

"I've had lots of people come to me since then -- adults, little kids, teenagers who play softball and baseball -- and say that he's their hero," Jennifer Viera said, "because he didn't let his condition stop him. He was placed here to touch people's lives."  

Copyright 2011 ABC News Radio

Thursday
Jun302011

Progeria Patients May Get Hope with New Research

Jupiterimages/Thinkstock(BOSTON) -- Doctors may be closer to finding a cure for patients with Progeria, an extremely rare and fatal genetic disorder which causes children to age eight to 10 times the normal rate, according to a new study published in Science Translational Medicine.

Progeria is caused by a protein called progerin which accumulates in cells much faster than the average rate.  But researchers found that a drug known as rapamycin slowed and even stopped the disease progression within the cells.

While the drug has only been tested in Petri dishes, scientists are excited about rapamycin's potential to treat the condition.

"Part of the problem with aging starts when debris is accumulating in the cells and it's not getting removed, and this particular drug is able to enhance the removal process," said Dr. Dimitri Krainc, lead author of the study.  "It would be too optimistic to say this could completely cure Progeria patients, but we're hoping that this drug could make these kids live longer with fewer complications."

Out of every four to eight million births worldwide, one child will be diagnosed with the condition.

Progeria patients appear healthy at birth, but soon after, parents and doctors begin to see signs of the condition.  Children with the disease are well below the average height and weight for their age.  Their head is disproportionately large for the face, they have a beaked nose, hair loss, a hardening of the skin and stiff joints.

Currently, the average lifespan of a Progeria patient is 13 years old.

"Lifespan can really range from 5 or 6 years to 22 years old," said Dr. Ted Brown, a pediatrician who has spent 30 years researching Progeria.  "In a typical course, by the time a patient gets to be 9 or 10, there is a hardening of the arteries, and they die of heart disease -- heart attack and stroke most typically."

The drug is already approved by the Food and Drug Administration as an antibiotic to fight rejection in organ transplant recipients.  Because it is already used for certain conditions, Krainc said this may allow for physicians to jumpstart clinical trials to test it as a treatment in Progeria patients.

Copyright 2011 ABC News Radio







ABC News Radio