History, Accomplishments & Goals (updated May 2016)
In a remarkably short amount of time, Progeria research progress has flourished: from gene finding, to the first-ever clinical trials in Progeria, to a first-ever treatment that is giving the children stronger hearts and longer lives. The Progeria Research Foundation, Inc. (PRF) is 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.
Moreover, PRF boasts an 80-85% program ratio, and has been awarded the coveted 4-star rating by Charity Navigator for two years in a row. Click here for more details on these organizational achievements.
Our History, Our Future…
1999: The Beginning…No research, no awareness, no knowledge
2003: Progeria Gene Discovery – The doors of science are flung open
2007: First Clinical Trial – A drug (lonafarnib) is identified as a potential treatment
2012: First Treatment – Trial results show lonafarnib makes their hearts stronger
2014: Longer Life - Time reveals lonafarnib shows increased estimated lifespan
2016: New Drug, New Trial: another drug is added to the current treatment, with the hope that the 2 combined will be even more effective.
ONGOING: Discovering other drugs that will be even more effective
Click here to view our Timeline Highlights from 1999 through April 2016!
2014 Financial Profile
PRF's Annual Report 2014 (2015 Annual Report will be available September 2016)
Progeria is a fatal, “rapid aging” disease that afflicts children, who die of heart disease at an average age of 14 years. The Progeria Research Foundation was founded in March 1999 by the family, friends and colleagues of Sam Berns, a Massachusetts child with Progeria. PRF is the only organization in the world solely dedicated to finding a cure for Progeria.
MISSION: To discover treatments and the cure for Progeria and its aging-related disorders, including heart disease.
VISION: To be the driving force worldwide to:
- Develop treatments
- Discover the cure
- Provide information and guidance
- Be a valuable resource for Progeria families
The governance of the non-profit 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, Director of Operations, Director of Development, Clinical Trial Coordinator, Director of Volunteer Activities, Donor and Communications Specialist, and Administrative Assistants.
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. Enjoy this Expert Opinion article, co-authored by PRF’s Executive Director and Medical Director, which recounts how PRF’s research-related programs are helping us accomplish our mission. We also invite you to check out PRF By The Numbers for a detailed description of these programs. 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 Trials and Treatment: PRF-Sponsored Clinical Drug Trials bring children from around the world for promising treatments that may help to improve disease and may even extend the lives of children with Progeria. In 2012, history was made with the discovery that a farnesyltransferase inhibitor, or FTI, is the first-ever treatment for Progeria. More recent studies conclude that FTIs extend estimated lifespan. These are remarkable steps forward in the pursuit of a cure. PRF continues to explore other promising drugs, and is currently extending and expanding enrollment for the FTI trial so all children with Progeria can participate and have access to a drug that may give them longer, healthier lives.
- 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 over 200 cell lines, including those from affected children worldwide (with ages ranging from 2 months to 17 years). Since its creation in 2002, biological materials have been sent to over 100 teams of researchers in 19 countries.
- 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. 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 $6.7 million to fund 62 grants for Progeria-related research projects performed in 19 states and 12 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 2003-2014, 549 scientific publications have appeared, compared to less than 2 per year for the previous 50 years - that's over a 2,200% average annual increase!
- Web Site/Public Awareness: ProgeriaResearch.org provides access to the latest information on Progeria research and support for families. Through Facebook (over 1 million followers!), Twitter, and other mediums, PRF’s direct social media reach is nearly 1 million. PRF’s story has appeared on CNN, ABC News, The Dr. Oz Show, Primetime, Dateline, The Katie Couric Show, and The Today Show, in Time and People magazines, The New York Times, The Wall Street Journal and many other widely-read media outlets. The award-winning 2013 HBO film Life According to Sam has brought awareness to a new level. PRF and partner GlobalHealthPR also manage a global awareness campaign called Find the Other 150, to further PRF’s efforts to find children with Progeria worldwide so they can get the unique help they need.
- 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 2016 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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