Progeria Research Foundation's Accomplishments
History, Accomplishments & Goals (updated February 2010)
In just 10 years, since we founded PRF and there were no resources for these children, we have gone from gene finding to the first clinical trials in Progeria. We are now being hailed as a model for disease-research orgs. and a prime example of successful translational research, moving from the lab to treatments at a pace virtually unheard of in the scientific community. And while helping this handful of children, the connection of Progeria to common heart disease and aging has tremendous implications for us all.
Click here to view our impressive 10-year timeline, from 1999 through 2009!
Read our 2009 End of Year Report
The Progeria Research Foundation, Inc. (PRF) was founded in March 1999 by the family, friends and colleagues of Sam, a Massachusetts child with Progeria. Progeria is a fatal, “premature aging” disease that afflicts children, who die of heart disease at an average age of 13 years.
MISSION: To discover the cure and effective treatment for Progeria and its aging related disorders.
- Discover the cure
- Develop treatment
- Provide information and guidance
- Be a valuable resource for Progeria families
The governance of the corporation is vested in a national Board of Directors which serves without compensation and meets quarterly. There is also a volunteer Medical Director and corporate officers. Volunteer committees (public awareness, medical research, special events and fundraising committees) meet as needed. Staff includes a full-time Executive Director, a part-time Executive Assistant and a part-time Administrative Assistant.
PRF is the only organization in the world solely dedicated to finding a cure for Progeria. We have progressed rapidly by discovering the Progeria gene and most recently finding a potential drug treatment, all in just 7 years – a pace virtually unheard of in the scientific community! And finding a cure will help not only those with Progeria, but perhaps also the millions of people who suffer from heart disease and other, aging-related conditions.
PRF’S ACCOMPLISHMENTS
In the first few years of existence, PRF created a comprehensive network of research-related needs to promote advances in the field, such as a cell & tissue bank, grant funding and scientific workshops.. By centralizing all of the resources needed to propel forward as quickly as possible towards treatments and cure, PRF has firmly established itself as an international force driving Progeria research and education. The following PRF activities have played and are playing key roles in Progeria research:
- Discovery of the Progeria Gene: PRF was instrumental in this historic, 2003 accomplishment! Members of PRF’s Genetics Consortium collaborated, and cell lines from PRF’s Cell Bank were essential to the experiments that led to the discovery - a critical step in the ultimate quest for a cure. The gene discovery literally flung open the doors of science, and all of our programs have grown, as the number of potential patients coming to PRF for diagnosis and treatment, and the number of scientists interested in Progeria research, rises - all because of our accomplishments and outreach efforts.
- Diagnostics Testing Program: PRF created this project in the wake of the gene discovery so that children, their families and medical caretakers can for the first time be given 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. In addition, because this definitive diagnostic testing prevents misdiagnosis, it ensures that scientists are working with the proper cells and tissues, as they ask questions about Progeria, heart disease and aging.
- First-Ever Progeria Clinical Drug Trial for Progeria: PRF funded and co-coordinated the first-ever clinical drug trial for Progeria, taking place at Children’s Hospital Boston. 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 first trial began in May 2007, involved 28 children (ages 3 to 15 years) from 16 countries and was just completed in December 2009. Trial results will be published in a scientific journal in 2010. PRF raised all funds needed to cover the costs of the trial.
Triple Drug Trial: Since the start of the first trial, researchers identified two additional drugs that, when used in combination with the current drug being tested, may provide an even more effective treatment than the single drug. PRF moved quickly to explore these additional treatment options and, after a successful “mini trial” in April-May 2009 wherein 5 young children, ages 2-3 years, were given the 3 drugs to test the tolerability of side effects, PRF and Children’s Hospital Boston launched this new clinical trial for Progeria in August 2009, which will run for 2 ½ years.
The Triple Drug Trial is much larger than the first, involving 45 children from 30 countries: most of the 28 in the first trial, and those that were either too young for the first trial or not known to PRF during enrollment for that trial. - Cell & Tissue Bank critical for research to occur: The 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. Presently, PRF has collected an impressive 77 cell lines from affected children worldwide (with ages ranging from 8 months to 17 years). With only 54 children living with Progeria in the world today, we’ve been hard at work with the families and their physicians to gather these precious biological materials. Since its creation in 2002, cells have been sent to 41 researchers in 15 states and 9 countries. By the end of 2009, a total of 279 cell lines have been distributed.
- Medical & Research Database: Medical records of Progeria patients are collected, and the data is rigorously analyzed to determine the best course of treatments to improve the patient’s quality of life. This information is invaluable for the attending physician to guide the family through the best course of action. To date, PRF has enrolled 84 children in the program, and published three formal healthcare recommendations: Cardiac Care, Nutrition, and Occupational Therapy/Physical Therapy. The database was critical in determining the primary clinical outcome parameter for the first-ever clinical drug trial for Progeria.
- Scientific Workshops on Progeria: PRF has organized five successful scientific conferences that have brought together scientists and clinicians from all over the world to collaborate, sharing their ideas and contributing their expertise in this lethal disease. The most recent workshop took place in Boston, MA in November, 2007, bringing nearly 100 scientists from 11 countries and sixteen states together for the largest conference gathering to date. The next workshop, “From Bench to Bedside in a Decade,” is scheduled for April 11-14, 2010 in Boston, MA with an estimated attendance of 125. Highlights include a plenary address given by National Institutes of Health (NIH) Director Dr. Francis Collins, a Progeria family panel and presentation of the first-ever Progeria clinical treatment trial results.
- Research Grants: PRF’s grants of up to $100,000 per year, for up to two years, have allowed innovative research in Progeria to thrive. Proposals are carefully evaluated by PRF’s Medical Research Committee and Board of Directors. We know more about Progeria and its connection to heart disease and aging than ever before, and we’re on our way to a future of better health and longer lives for the children. To date, PRF has invested over $2 million to fund 28 grants for Progeria-related research projects performed in 13 states and 3 other countries.
- Publication of Scientific Papers: A major goal of PRF is to promote awareness about Progeria and the progress being made in the field of Progeria research. Dozens of publications on Progeria, many of which acknowledge PRF grant support or PRF’s support of providing cells, have been published in well-known, respected scientific journals read by thousands of researchers worldwide. From 2002-2009, 169 scientific publications have appeared, compared to less than 2 per year for the previous 50 years - that's over a 1,300% average annual increase!
- Web Site/Public Awareness: ProgeriaResearch.org provides visitors with access to the latest information on Progeria research, support, and education for families and caregivers. PRF’s Web site enjoys an average of approximately 15,000 visitors per month, and PRF’s newsletters reach 10,000 people in 49 countries. PRF’s story has appeared on CNN, Primetime, BBC, Dateline, Discovery, in Time and People magazines, The New York Times, The Wall Street Journal and dozens of other widely-read media outlets. In the summer of 2006, PRF kicked off a national public awareness campaign featuring the voices of Ted Danson and Mary Steenburgen. The PSA was endorsed by the Advertising Council, and aired on the Astrovision in Times Square in November 2006. In January 2007, PRF and the Progeria Clinical Drug Trial were featured on the front page of The Wall Street Journal, reaching millions of readers worldwide.
PRF is now partnering with worldwide health communications group GlobalHealthPR in a global awareness campaign called Find the Other 150. This campaign, launched in October 2009 in the Americas, Europe, Russia, Asia and Africa, will drive the search for unidentified children with Progeria worldwide by raising awareness of the disease among both the general public and global medical communities. GlobalHealthPR is the largest organization dedicated exclusively to healthcare communications worldwide. Its leader, Spectrum Communications based in Washington, DC, has been providing pro bono services to PRF since the 2003 Progeria gene discovery. The campaign is working! Launched just 3 months ago, we have found 3 more of the 150: 2 in Brazil, 1 in Turkey. - Volunteer Expansion: Thousands have joined in PRF’s fight for a cure in many ways, from participating in fundraisers, to translating information for the non-English speaking families, to stuffing envelopes! The Miracle Makers section of PRF’s newsletters and web site pay tribute to these “heroes” who selflessly give their time & talents to raise money and awareness for PRF. In 2005, we created our first chapter, in Southern California, and five more have been formed.
PRF in the Future
PRF will accomplish its mission by:
- Completing the Progeria clinical drug trials, in the hopes that they will lead to an effective treatment.
- Keeping the Diagnostic Testing Program up and running continually, so that early and accurate diagnoses can be made and medical intervention can be implemented.
- Increasing the number of participants in the Cell & Tissue Bank and Medical & Research Database projects, and keeping those vital projects operating so that scientists can use them as research tools.
- Soliciting and funding additional research proposals that focus on studying the gene defect, and on developing effective treatments and a cure.
- Holding additional scientific meetings to continue to expand the collaborations on the latest findings, resources and ideas.
- Maintaining and fostering our partnership with the National Institutes of Health to encourage more funding of Progeria research.
- Increasing our public awareness campaign so that more children will be properly diagnosed at earlier ages, more scientists will get involved in our efforts, and more individuals will support our cause.
- Expanding our volunteer base (including chapters) and fundraising campaigns to support PRF’s programs.
- Moving even closer to our mission of finding treatments and the cure for Progeria!