Hope for Progeria patients

The following article appeared on June 29th on the Wall Street Journal Site and the author of this blog does not have any ownership over it. This has been collected and put forth here for the viewers of this blog to read it:

The original author of this article is Amy Dockser Marcus 

Research led by the National Institutes of Health may suggest new avenues of treatment for a rare childhood disorder–and insights into the aging process.

A group of scientists led by NIH director Francis S. Collins are reporting that the drug everolimus clears out a protein called progerin from cells of children with progeria. This protein builds up to toxic levels in patients with progeria, a rapid-aging disorder that causes children to die of heart attacks or strokes in their teens.

Everyone makes progerin, a mutant form of the protein Lamin A, which is critical to organizing the genome inside the body’s cells. As WSJ has reported , there is a growing body of research that shows progerin accumulates as we grow older. In today’s study, the researchers found that everolimus also reduced progerin in cells from healthy people and prolonged cell life. Everolimus is a derivative of the immunosuppressant rapamycin, which has been shown in previous work to extend the life span of mice.

The study, published today in Science Translational Medicine , found that everolimus appears to rev up cells’ own recycling system so they clear the toxic progerin out more rapidly. The underlying defect driving the genetic disease remains, Collins told the Health Blog, “but the amount of protein is reduced by 50% in treated cells, which has a profound effect on survival.”

In the paper, the researchers concluded that the data are so compelling that the drug should be tested in children with progeria. They point out that everolimus has been tested in children before.

Last November, the FDA approved Afinitor, the brand name for everolimus tablets made by Novartis Pharmaceuticals, for the treatment of patients with benign brain tumors associated with another rare disease called tuberous sclerosis. The FDA approval was based on a 28-patient study conducted by Cincinnati Children’s Hospital Medical Center. The median age in that trial was 12, according to David Neal Franz, a neurologist who led the trial.

Leslie Gordon, medical director of the nonprofit Progeria Research Foundation, which helped fund work in the new paper, said researchers are considering how to launch an everolimus trial. She is also co-chair of a trial of a three-drug cocktail trial currently under way at Children’s Hospital Boston in 45 children with progeria. That trial team has had preliminary conversations with the FDA about the possibility of a new everolimus trial, she told the Health Blog.

Researchers are excited that everolimus appears to use a different avenue of attack on progerin than the three drugs. Gordon said, “This offers a new option to test.”

Cure for Progeria near?

The following is an article by Caroly Y. Johnson of the Progeria Research Foundation, as appeared on the boston.com site on 30th June. The author of this blog does not claim ownership over the article and the article is just posted here for the regular visitors of the blog to read it:


Everyone knows what a deadly, rare disorder Progeria is and how many problems it could cause to an individual. Scientists have been working towards finding a cure for it for quiet sometime now.

Yesterday, a research team that includes Boston scientists and the director of the National Institutes of Health announced that they had used an old drug in a new way, performing laboratory experiments that suggested the medication might prevent the hallmarks of premature aging in children stricken with the rare, uniformly fatal disease called progeria. It’s still early research, but the result has electrified families of children with progeria.

Already, doctors at Children’s Hospital Boston, who have seen more than half the known progeria patients in the world, are planning the largest clinical trial yet based on the findings.

“I am a glass half-full person, but for a parent you can’t go fast enough,’’ said Dr. Leslie Gordon, an associate professor of pediatrics at the Warren Alpert Medical School at Brown University, who abandoned plans to go into ophthalmology when her son was diagnosed with progeria in 1998. Instead, she helped found The Progeria Research Foundation to support research into the disease, known to afflict 80 children worldwide, and began amassing the world’s largest collection of tissue samples from patients and family members.

The new result is the continuation of a story with deep local roots that weaves together genetics, families who unite to push science forward, and a heartbreaking disease that seized the attention of doctors and scientists as it became clear that helping these children could provide powerful insights into normal aging.

In many ways, children with progeria, formally known as Hutchinson-Gilford progeria syndrome, live completely normal lives. They play, think, and act just like other kids their age. Such is the case with Gordon’s son, Sam, a 14-year-old who just graduated from eighth grade.

Because of a single mistake in the six billion letters in the genome, children with progeria accumulate too much of a protein called progerin in their cells. They develop bone and skin problems before their first birthday. They are smaller than their peers and have so much trouble keeping fat on their body that veins on their foreheads become visible. They suffer from the same cardiovascular problems that kill many adults and live, on average, to be only 12.

“Every medical student knows about this disease. Old age when you’re 10 is a striking image,’’ said Dr. Mark Kieran, director of medical neuro-oncology at Children’s, who leads clinical trials on the disease. “And because heart attacks are such a common cause of death, it’s hard to look at these young, frail little kids that look like they’re 70’’ and not see parallels

In fact, there’s increasing evidence that progerin also naturally accumulates in cells as people get older.
The closely entwined connection between aging and the disease is especially apparent in the new research, published yesterday in the journal Science Translational Medicine.

Dr. Dimitri Krainc, an associate professor of neurology at Massachusetts General Hospital, normally studies diseases that ravage the minds of adults — including Parkinson’s and Huntington’s disease. His lab has been focused on understanding how the trash-removal systems of cells go haywire as people age, allowing debris to build up.

A few years ago, Krainc approached Dr. Francis Collins, a geneticist who first treated a young woman with a disease closely related to progeria three decades ago when he was at Yale. Krainc wondered if the approaches he was interested in might apply to the childhood aging disease, too. Collins, now director of the NIH, had led one of the teams that discovered the genetic spelling mistake that causes the disease in 2003 and later became intrigued by a drug called rapamycin, a transplant rejection medication shown in a dramatic 2009 study to significantly lengthen the lifespan of mice.

When the scientists administered the drug to the cells of progeria patients in a laboratory dish, it removed the progerin protein in cells.
The characteristic bulging of the control center of the cell, the nucleus, went away. Kieran, who was not involved in the research, said there are plans to try a related drug in 65 children with progeria.

In an interview, Collins said that many of the broad themes that have become important on a national level — translating the molecular understanding of disease into ways to help patients, and repurposing old drugs against different diseases — were parts of the new work.

“We learn over and over again that the study of rare diseases can shed light on common problems in ways that are maybe easier to reveal when you’re looking at a dramatic consequence in a rare disease,’’ Collins said.
For parents like Stephanie Howard of Stevensville, Mich., it offers a powerful sense of hope. Her son, Cam, is like other 4-year-olds in so many ways — he goes to preschool, loves to watch his dad mow the lawn, and his parents are about ready to take the training wheels off his bike.

“I think people would think, ‘He’s aging, he doesn’t have the energy or cognitive development of other kids,’ ’’ Howard said. But the truth is, she said, her son’s energy and abilities are a constant marvel.

“We’re hopeful that [the new research] has the potential to lead to some treatments for Cam and other children with progeria.’’

Progeria- Child gets attention

Zach Pickard, a four year old kid from Lexington, Kentucky, USA, has been featured on CBS channel. He was diagnosed with Progeria, a rare genetic disorder. It's so rare that less than 50 people around the world are currently known to have been affected by it.

Zach is currently just four year olds and the doctors have said that he is likely to live for another ten years. There are cases where the affected people have gone on to live more than even twenty years. Leon Botha, a south african DJ passed away just a few days back and he went on to live till the age of 26.

Tina Pickard, Zach Pickard's mother says that she is having hope for her child as he is now part of a special drug trial in Boston. Several such drug trials and research for the treatment for Progeria have been happening all over the world and we certainly do hope, that a cure is found soon and people like Zach can live a happy, normal life.

Children like Zach are born with excess amounts of a protein called Progerin. Progerin is a cell destroying protein and the presence of excess of it, does cause a lot of problems for the individual. Doctors do believe that the new research they are making, could lead to the development of ground breaking anti-aging treatments. 

Latest News

The Longest documented survivor, passes away:

South African, Leon Botha, the longest documented survivor of Progeria, had passed away on June 5th, a day after his 26th birthday.

He was born with the Progeria disorder and had spent most of his life with a number of health problems. People affected by Progeria aren't expected to cross their teenage, but Leon Botha was an exception.

It was truly his own fighting spirit that kept him going and he had accomplished so much in his short life, than an average human being with a healthy mind and body could.

In 2009, Botha collaborated with Gordon Clark on a photo series called Who Am I? Transgression, depicting him in theatrical projections of how society might see him.

Botha became a DJ and opened for Die Antwoord during their concerts. He even featured in one of their music videos, Enter the Ninja. The video got him and the troop tremendous attention and fame.

Fans have been expressing their condolences all over the social networking sites. Many people have described him to be "inspiration, with a zest for life". The stardom he had achieved and the following he has garnered is sure to put the spotlight on this rare disorder, making people notice the disorder and help the few people suffering from it.

Leon Botha sure was an inspiration to all the other people who were born with the disorder. Botha proved that if a human possessed the will and inspiration to achieve great heights, then he can go beyond all his obstacles and achieve greatness. His contribution to the music fraternity will not be forgotten. May his soul rest in peace.