The Progeria Research Foundation, Inc.

PRF's mission is to find treatments and the cure for Progeria and its aging-related disorders, including heart disease. PRF's comprehensive network of research-related programs provide all the tools necessary to help Progeria families and their physicians care for the children, while simultaneously advancing Progeria research. We not only work toward future treatments and the cure, but also help the children living with Progeria today, providing hope - where none had existed before - that they will live long and healthy lives.

PRF fosters communication with the children & their families, scientists, clinicians, academic institutions, pharmaceutical companies, volunteers, and the general public. By centralizing all resources in one entity which solely exists to find treatments and the cure, the research is propelled forward rapidly – in fact, PRF has earned a reputation of a model for rare disease research organizations, making progress toward treatments at a pace virtually unheard of in the scientific community. Continuing this pattern of program-building and communication will undoubtedly be pivotal for discovering additional treatments and the cure for children with Progeria.
PRF's programs and services, all of which are steadfastly mission-focused, include the following:
PRF's International Progeria Registry serves to improve communication of ideas among interested researchers, and assures rapid distribution of new information to both parents and the children's physicians that may benefit the children.
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's Medical & Research Database is a collection of medical records of Progeria patients from all over the world. The data is analyzed to determine the best course of treatments to improve the patient's quality of life and to compile a natural history study that is key to understanding the commonalities between patients, disease characteristics and disease progression.
PRF's Research Grant Program funds science that pushes the field towards treatments and the cure. PRF's Medical Research Committee carefully considers each proposal's potential contribution towards the mission, and as knowledge and technology advance, so do these discussions.
PRF created the Diagnostics Testing Program in the wake of the gene discovery so that children, families and medical caretakers can for the first time be given a definitive, scientific diagnosis. This can translate into earlier diagnoses, fewer misdiagnoses and early medical intervention to ensure a better quality of life for the children.
Progeria clinical drug trials are the best hope for children with Progeria, testing potential treatments that may enable them to live longer, healthier lives. PRF's supporting programs have culminated in its ability to co-coordinate and fund clinical drug trials. Each trial builds upon the experience of and knowledge gained from previous trials, primarily through defining new ways to assess disease and changes with treatment.
Public awareness efforts are used to educate the public, identify new children with Progeria throughout the world and build support for the organization's efforts. Keys to successful growth include worldwide outreach through an up-to-date website and vast social media presence to educate the public about Progeria.

PRF continually works to cultivate and solidify partnerships with experts in a variety of fields, as well as financial supporters, all of whom are key to its accomplishments and goals. PRF is also committed to the growth and development of our staff and creates yearly goals with the support of our Board of Directors.
Thousands of international experts, dedicated volunteers, and others have joined with PRF to help advance its mission. All of PRF's clinical trials are a collaborative effort with Boston Children's Hospital (BCH) and Brigham and Women's Hospital. The children are seen by a team of 21 physicians who are now the world's leading experts in Progeria, including specialists in cardiology, radiology, neurology, endocrinology, and orthopedics, and statisticians from the Framingham Heart study.

In just 20 years, the PRF community has achieved a number of historic milestones that have resulted in tremendous progress toward treatments and a cure for this ultra-rare, premature aging condition. Key advancements include the Progeria gene mutation discovery in 2003; an exponential increase in the number of peer-reviewed research publications on Progeria; first-ever clinical drug trials initiated in 2007 which resulted in the first-ever FDA approval for a Progeria treatment, lonafarnib (Zokinvy), and an over 450% increase in the number of children identified with Progeria worldwide.

Another demonstration of how far we’ve come can be found in the 2nd edition of our Clinical Handbook. This 130+-page book contains updated and new information gleaned from extensive research over the past decade since the first edition, including new chapters on genetic counseling, lonafarnib treatment, and adolescence, as well as expanded chapters on cardiovascular care.

Through PRF's research efforts, scientists have also made a definitive connection between Progeria, heart disease, and normal aging. Thus, finding the cure for one of the rarest diseases on earth may also help millions of adults who suffer from heart disease, as well as the entire aging population.

With the support of dedicated staff and volunteers, a talented board of directors, courageous families, and thousands of generous people around the world, we are pushing the field of Progeria forward towards discovery, treatments, and cure. And along the way, we are learning a tremendous amount about ourselves.