History, Accomplishments & Goals (updated September 2012)
In just 13 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, to a treatment. We are hailed as a model for disease-research organizations and a prime example of a successful translational research organization, 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 Timeline Highlights from 1999 through September 2012!
PRF's Annual Report 2011
PRF's Annual Report 2010
PRF's 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, “rapid aging” disease that afflicts children, who die of heart disease at an average age of 13 years.
MISSION: To discover treatments and the cure for Progeria and its aging-related disorders.
VISION: To be the driving force worldwide to:
- Discover the cure
- Develop treatments
- 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 development committees) meet as needed. Staff includes an Executive Director, Clinical Trial Coordinator, Director of Volunteer Activities, Donor and Communications Specialist, and Administrative Assistant. Working with PRF are also a part-time grant writer and major gifts officer.
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 in 2003, starting clinical drug trials just 4 years later, and discovering the first treatment in 2012! 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.
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, diagnostic testing, international registry, 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. In September 2012, the trial results were published in Proceedings of the National Academy of Sciences, announcing the first-ever treatment for Progeria.. 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 Boston Children’s Hospital launched this new clinical trial for Progeria in August 2009, and trial visits are ongoing.
The Triple Drug Trial is much larger than the first, involving 45 children from 24 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 167 cell lines, including 99 cell lines from affected children worldwide (with ages ranging from 2 months to 17 years). Since its creation in 2002, biological materials have been sent to 47 teams of researchers at 42 institutions in 16 states and eight other countries. In addition to DNA, teeth, hair and autopsy tissue, a total of 300 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 116 children in the program, and in April 2010, PRF published The Progeria Handbook, for families and doctors. From basic health facts to daily care recommendations to extensive treatment guidelines, this 100-page handbook helps answer many questions for children with Progeria throughout the world, and is available in English, Spanish and Portuguese. The database was critical in determining the primary clinical outcome parameter for the first-ever clinical drug trial for Progeria.
- Research Grants: PRF’s grants of up to $100,000 per year, for up to three 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 $5 million to fund 54 grants for Progeria-related research projects performed in 17 states and 10 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 2002-2011, 272 scientific publications have appeared, compared to less than 2 per year for the previous 50 years - that's over a 1,500% average annual increase!
- 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 17,000 people in 61 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. www.findtheother150.org
- 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 six more have been formed.
PRF in 2012 and Beyond
In the years to come, we intend to live up to our reputation of rapid and impactful accomplishments, including the following:
Work towards new treatments and treatment trials for children with Progeria.
Continue our efforts to promote drug discovery and partner with drug companies, to develop potential treatments and the cure for Progeria.
Continue to expand the Find the Other 150 Campaign globally, to increase awareness of Progeria so more children will be found and helped by PRF.
Increase the number of participants in the International Registry, Cell & Tissue Bank and Medical & Research Database projects, so that scientists can continue to use them as research tools to understand Progeria, heart disease and aging.
Fund additional research proposals that focus on studying the Progeria gene and how this defect can be corrected.
Continue to engage and motivate our enthusiastic volunteer community to further increase revenue and expand our programs
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