Documents in other lanaguages: please click on languages to the left for translations of the English documents posted below.

 

QUICK FACTS as of January 2011

Mission:  to discover the cause, treatment and cure for Hutchinson-Gilford Progeria Syndrome and its aging-related disorders.

PRF BY THE NUMBERS:
Known children living with Progeria: 78 in 31 countries
Children tested through PRF’s Diagnostic Program: 88
Grants funded since PRF was established:   33
Cell lines in the PRF Cell & Tissue Bank:  151
Children participating in the PRF Medical & Research Database:  97
Total Dollars Raised
1999 through 2010: $9,738,084
85-90% of PRF’s annual expenses are consistently dedicated to its programs and services.
The support we have received made the Progeria gene discovery, the Progeria clinical trials and all of our extraordinary progress possible.  With the continued help of our supporters, we will win this race against time and find treatments and the cure for these special children – and perhaps also help millions who suffer from heart disease and other, aging-related conditions.

What is Progeria?
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children.  All children with Progeria die of the same heart disease that affects millions of normal aging adults (arteriosclerosis), but instead of occurring at 60 or 70 years of age, these children may suffer strokes and heart attacks even before age 10.  Remarkably, the intellect of children with Progeria is unaffected, and despite startling physical changes in their young bodies, these extraordinary children are intelligent, courageous, and full of life.

What is PRF?
The Progeria Research Foundation (PRF) was established in 1999 by the parents of a child with Progeria, Drs. Leslie Gordon and Scott Berns, and many dedicated friends and family who saw the need for a medical resource for the doctors, patients, and families of those with Progeria, and for funding of Progeria research.  Since that time, PRF was the driving force behind the discovery of the Progeria gene, and has developed programs and services to aid both those affected by HGPS and the scientists that conduct Progeria research.  Today, PRF is the only non-profit organization solely dedicated to finding treatments and the cure for Progeria.  PRF is hailed as a model for disease-research organizations and a prime example of successful translational research, moving from creation, to gene discovery, to treatment trials in just 10 years. 

PRF’S PROGRAMS & SERVICES

  • First-Ever Progeria Clinical Drug Trials for Progeria: PRF funded and co-coordinated a $2 million, first-ever clinical drug trial for Progeria that took place in Boston with partners Children’s Hospital Boston (CHB), Dana-Farber Cancer Institute and Brigham and Women’s Hospital. The trial drug is called a farnesyltransferase inhibitor, or FTI, a drug that has shown great promise in the laboratory and in animal models.  The trial enrolled 28 children from 16 countries, ages 3 to 15 years.  If the drug proves effective, it will be a remarkable step forward in the pursuit of a cure. 

    Since the start of the first trial, researchers identified two additional drugs that, when used in combination with the current FTI drug being tested, may provide an even more effective treatment for children with Progeria than the single drug.  PRF moved quickly to explore these additional treatment options. PRF and CHB began a second clinical trial for Progeria in August 2009. The "Triple Drug Trial" is much larger than the first, involving 45 children from 24 countries, speaking 17 different languages.

  • PRF’s International Progeria Registry maintains centralized information on children and families living with Progeria.  This assures rapid distribution of any new information that may benefit the children. 

  • Cell & Tissue Bank:  The PRF Cell & Tissue Bank provides medical researchers with genetic and biological material from Progeria patients and their families, so that research on Progeria and other aging-related diseases can be performed to bring us closer to finding the cure.  PRF has collected an impressive 90 cell lines from affected children worldwide (with ages ranging from 2 months to 17 years), and 61 lines from their immediate relatives.

  • Medical & Research Database: The Database is a centralized collection of medical information from Progeria patients worldwide.  The data is rigorously analyzed to help us understand more about Progeria and devise treatment recommendations.  In 2010, this analysis contributed to PRF’s comprehensive healthcare recommendations handbook on Progeria aimed at optimizing quality of life.

  • Diagnostic Testing:  PRF developed a diagnostic testing program for Progeria in the wake of the 2003 gene discovery so that children, their families and medical caretakers can get a definitive, scientific diagnosis.  This can translate into earlier diagnosis, fewer misdiagnoses and early medical intervention to ensure a better quality of life for the children.

  • Scientific Workshops on Progeria: PRF has organized 6 scientific conferences that have brought together scientists and clinicians from all over the world to share their expertise and cutting edge scientific data, and foster collaboration in the fight against this devastating disease.

  • Research Grants: PRF has awarded 33 research grants totaling over $2.5 million through peer review by our volunteer Medical Research Committee.  Awards of up to $100,000, for up to two years, have allowed innovative new research in Progeria to thrive.

  • Publications and Research: Both clinical and basic scientists have accessed the PRF grants, cells and tissues, and database; their discoveries are published in top-notch scientific journals.  The average annual number of scientific publications on Progeria since 2002 is more than 12 times that of the previous 50 years.

  • PRF Translation Program: In touch with the world.  With a prominent global outreach, PRF eliminates barriers to communication for patients and their families around the world.  This initiative has succeeded in translating PRF program and medical care materials into over 20 different languages.

  • Web Site/Public Awareness: ProgeriaResearch.org provides access to the latest information on Progeria research, support, and education for families and caregivers. PRF’s newsletters reach over 13,000 people in 60 countries.  PRF’s story has appeared on CNN, The Dr. Oz Show, Primetime Live, Dateline, and The Today Show, and in Time and People magazines, The New York Times, The Wall Street Journal (front page!) and dozens of other widely-read media outlets.  In October 2009, PRF and its partner GlobalHealthPR launched a global awareness campaign called Find the Other 150, to drive the search for unidentified children with Progeria worldwide. The campaign has helped PRF to discover new families and children with Progeria who need our help.

    In October 2009     PRF and its partner GlobalHealthPR launched a global awareness campaign called Find the Other 150, to drive the search for unidentified children with Progeria worldwide. The campaign has helped PRF to discover new families and children with Progeria who need our help.

WHO’S WHO AT PRF?

Audrey Gordon, Esq., President and Executive Director, Co-Founder
Audrey Gordon, Esq. oversees all administrative aspects of The Progeria Research Foundation, including the Board of Directors’ activities, fund-raising, grant submissions, medical research projects administration, and volunteer programs.

Leslie B. Gordon, MD, PhD, Medical Director, Co-Founder
Dr. Gordon co-founded The Progeria Research Foundation with friends and family after her son, Sam, was diagnosed with Progeria. Dr. Gordon oversees the Diagnostics Testing Program, Cell & Tissue Bank, and Medical & Research Database, and is a co-chair for the Progeria clinical drug trials.  She is Associate Professor of Pediatrics Research at the Warren Alpert Medical School of Brown University and Hasbro Children’s Hospital in Providence, RI, and a staff scientist at Children’s Hospital Boston and Harvard University Medical School.   

Scott D. Berns, MD, MPH, FAAP, PRF Chairman of the Board, Co-Founder
Dr. Berns, Sam’s father, is a co-founder of The Progeria Research Foundation, and serves as the Chairman of the Board.  He is a Board Certified Pediatrician and Clinical Professor of Pediatrics at the Alpert Medical School of Brown University.  He is also Senior Vice President of Chapter Programs at the March of Dimes.

Tina, Brandon, Brittany and Zach Pickard, PRF’s Ambassador Family
In January 2010, the family of 3-year-old Zach Pickard was named PRF’s Ambassador Family.  The Pickards live in Lexington, Kentucky, and are an integral part of PRF’s efforts to raise public awareness, involve other families in our programs, and raise funds for research.  We appreciate the time and effort they put into these important activities. 

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HUTCHINSON-GILFORD PROGERIA SYNDROME
FREQUENTLY ASKED QUESTIONS

WHAT IS PROGERIA?
Hutchinson-Gilford Progeria Syndrome “Progeria” or “HGPS” is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means "prematurely old." While there are different forms of Progeria*, the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England: in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford.

HOW COMMON IS PROGERIA?
Progeria affects approximately 1 in 4 - 8 million newborns. It affects both sexes equally and all races. In the past 15 years, children with Progeria have been reported all over the world•, including in:

Algeria
Argentina
Australia
Austria
Belgium
Brazil
Canada
China  
Columbia		 Cuba
Denmark
Dominican
    Republic
Egypt
England
France
Germany
India
 Ireland
Israel
Italy
Japan
Libya
Mexico
Morocco
Netherlands
Pakistan
 Peru
Philippines
Poland
Portugal
Puerto Rico
Romania
Serbia
South Africa
South Korea 		Spain
Sweden
Switzerland
Turkey
United States
Venezuela
Vietnam 


WHAT ARE THE FEATURES OF PROGERIA?
Although they are born looking healthy, most children with Progeria begin to display many characteristics of Progeria within the first year of life. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic backgrounds. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 – 21 years).

WHAT DOES PROGERIA HAVE TO DO WITH AGING?
Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, the leading cause of death worldwide. As with any person suffering from heart disease, the common events for Progeria children are high blood pressure, strokes, angina (chest pain due to poor blood flow to the heart itself), enlarged heart, and heart failure, all conditions associated with aging.

Thus there is clearly a tremendous need for research in Progeria. Finding a cure for Progeria will not only help these children, but may provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process.

* Other progeroid syndromes include Werner’s syndrome, also known as “adult progeria” which does not have an onset until the late teen years, with a life span into the 40’s and 50’s.

• For a map of where living children reside, please go to www.progeriaresearch.org/meet_the_kids.html

+ The World Health Organization Fact Sheet No. 310, “The Top Ten Causes of Death” (November 2008 update)

WHAT IS THE CAUSE OF PROGERIA?
HGPS is caused by a mutation in the gene called LMNA (pronounced “lamin-a”). The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability leads to the process of premature aging in Progeria.

PRF was the driving force behind finding the gene responsible for Progeria. A group of leading scientists from PRF’s Genetics Consortium was able to isolate the Progeria gene, and in April 2003, PRF led the announcement reported in the leading scientific journal Nature.

“Isolating the Progeria gene is a major achievement for the medical research community,” said Dr. Francis Collins, Director of the National Institutes of Health and co-discoverer of the Progeria gene, “The discovery not only gives hope to children and families affected by Progeria, but also may shed light on the phenomenon of aging and cardiovascular disease.”


Progeria cell nucleus

IS PROGERIA PASSED DOWN FROM PARENT TO CHILD?
HGPS is not usually passed down in families. The gene change is almost always a chance occurrence that is extremely rare. Children with other types of “progeroid” syndromes which are not HGPS may have diseases that are passed down in families. However, HGPS is a “sporadic autosomal dominant” mutation – sporadic because it is a new change in that family, and dominant because only one copy of the gene needs to be changed in order to have the syndrome. For parents who have never had a child with Progeria, the chances of having a child with Progeria are 1 in 4 – 8 million. But for parents who have already had a child with Progeria, the chances of it happening again to those parents is much higher – about 2-3%. Why the increase? This is due to a condition called “mosaicism”, where a parent has the genetic mutation for Progeria in a small proportion of their cells, but does not have Progeria. Prenatal testing is available to look for the LMNA genetic change.

HOW IS PROGERIA DIAGNOSED?
Now that the gene mutation has been identified, The Progeria Research Foundation has a Diagnostics Testing Program. We can now look at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS. After an initial clinical evaluation (looking at the child’s appearance and medical records), a sample of the child’s blood will be tested for the Progeria gene. Now there is a definitive, scientific way to diagnose the children. This leads to more accurate and earlier diagnoses so the children can receive proper care.

WHAT IS PRF DOING TO HELP CHILDREN WITH PROGERIA?
The Progeria Research Foundation funds medical research aimed at developing treatments and a cure for Progeria. PRF also has its own Cell & Tissue Bank that provides the biological materials researchers need to conduct their experiments. Additionally, PRF has established a Medical & Research Database to supply physicians and families with medical recommendations for cardiac care, nutrition and other medical issues to help the children have a better quality of life. We continue to analyze medical records of children with Progeria so that we can provide information on how best to medically help children with Progeria, and provide clues towards potential new treatments. In April 2010, PRF published The Progeria Handbook, for families and doctors. From basic health facts to daily care recommendations to extensive treatment guidelines, the handbook helps answer many questions for children with Progeria throughout the world.

PRF is also involved in Progeria clinical drug trials, testing potential treatments. To date, PRF has funded and co-coordinated three clinical trials: the first began in May 2007 and all patients have completed their visits as of December 2009; the second was a one-month trial in March 2009 to determine if we could move forward with a larger population, which we did and that newest trial began August 2009. Please refer to www.progeriaresearch.org/clinical_trial for more details.

WHAT CAN YOU DO TO HELP CHILDREN WITH PROGERIA?

  • Make a financial contribution. Donations are needed to continue the vital work of PRF. No donation is too little or too big – every dollar counts in our quest for a cure!

  • Donate your time. Volunteers are also important to PRF’s success. Hold a special event like a bake sale or road race; translate documents for the families; help with a mailing – we’ll find something for you to do that fits your schedule, location and talents!
  • Donate in-kind services or items. Do you own a printing or office supply business? Are you a computer whiz that can help with our Twitter, FaceBook, web site and/or other on-line presence? Do you have a business background in non-profit development? These are just some of the many types of talents and connections PRF needs. The more tasks we can get accomplished on a pro bono basis, the more money we can devote to research!
  • Spread the word and tap into your connections. Do you know anyone who can help? Tell your friends, family and colleagues about PRF and the amazing work we’re doing! Many times, people are more likely to donate to an organization if they’ve gotten a recommendation from someone they know. So put in a good word for us and tell everyone to visit our web site at www.progeriaresearch.org, and contact us at info@progeriaresearch.org

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Progeria Research Foundation Launches Global Awareness Campaign to  “Find the Other 150” Undiagnosed Children with Fatal Rapid-Aging Disease

Campaign to raise awareness of Progeria among medical professionals, parents and caretakers.

Find the Other 150 Campaign Press Release

FOR IMMEDIATE RELEASE:

Contact: Megan Lustig
(202)955-6222
mlustig@spectrumscience.com

Progeria Research Foundation Launches Global Awareness Campaign to “Find the Other 150” Undiagnosed Children with Fatal Rapid-Aging Disease Campaign to raise awareness of Progeria symptoms among medical professionals, parents and caretakers.

 

BOSTON, MA (October 25, 2009) – The Progeria Research Foundation (PRF) announced today the launch of a global Progeria awareness campaign, “Find the Other 150." This campaign will drive the search for unidentified children with the fatal, rapid-aging disease, Progeria, in the Americas, Europe, Russia, Asia and Africa. PRF has partnered with global communications experts to raise awareness of the disease among both the general public and global medical communities in hopes of identifying these undiagnosed children.

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic condition characterized by the appearance of accelerated aging in children. Symptoms of Progeria include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. There are 52 known children with Progeria in 29 countries around the world, but statistically, scientists believe that there are approximately 150 additional unidentified children with this condition. Efforts to find these children will ultimately allow PRF to provide them with the medical services and unique care they need.

“Our goal is to find these children as quickly as possible so we can educate their families and health-care providers on the latest in Progeria research and treatments. We are excited to launch this campaign with GlobalHealthPR because their global reach will help us spread awareness to a worldwide audience,” said Audrey Gordon, President and Executive Director of PRF.

This disease hits close to home for Gordon and her sister, PRF Medical Director Dr. Leslie Gordon. Dr. Gordon's son was diagnosed with Progeria more than a decade ago, and the family has since dedicated their lives to finding a treatment and cure for the disease.

"As a fellow parent of a child with Progeria, I don't want anyone else to feel helpless in diagnosing and treating their child," says Gordon."The 150 campaign will allow me to provide these children with life-changing treatments and connect them with local medical professionals and other families of children with Progeria."

If someone you know or treat has Progeria-like characteristics, please contact The Progeria Research Foundation at www.findtheother150.org for resources that will help to provide them the best treatment possible.

The Progeria Research Foundation (PRF) was established in 1999 to find the cause, treatment and cure for Progeria – a rapid aging disease that causes children to die from heart disease or stroke at an average age of 13. In the past 10 years, research conducted in partnership with PRF has identified the gene that causes Progeria and identified a possible treatment for children with Progeria. PRF is now funding the first-ever clinical trial, currently underway at Children’s Hospital Boston. To learn more about Progeria and what you can do to help, please visit progeriaresearch.org

GlobalHealthPR unites owner-managed public relations agencies that are successful, insightful and experienced in their local markets, offering clients a better way to deliver communications in the diverse healthcare environment. The independent nature of GLOBALHealthPR ensures accountability and commitment to clients and staff. With more than 200 healthcare communications specialists, GLOBALHealthPR is the largest organisation dedicated exclusively to healthcare communications worldwide. www.globalhealthpr.com/. GlobalHealthPR is represented in the United States by Spectrum, a health and science communications firm based in Washington, D.C.

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Find the Other 150 Campaign Press Release

Progeria Fact Sheet

PRF Quick Facts