Washington, D.C., November 3, 2016—The Fibrous Dysplasia Foundation and the National Organization for Rare Disorders announce the launch of an ambitious study to research fibrous dysplasia/McCune-Albright syndrome (FD/MAS). The new study, the FD/MAS Patient Registry, creates a platform for patients around the world to share information about FD/MAS. Its purpose is to build an international resource to be used by scientists in future research. The study launched on October 31.
The FD/MAS Patient Registry is a natural history study that consists of electronic surveys to collect information about the patient experience and disease progression. Patients, or their caregivers or guardians, can enter information from anywhere in the world. The data is made anonymous and stored securely in an online portal called a registry. The Fibrous Dysplasia Foundation may share the data with individuals or institutions conducting research or clinical trials, as approved by the study’s governing board that includes scientists, doctors, patients and patient advocates.
In addition to medical information, the FD/MAS Patient Registry will be used to survey patients about the priority of potential future research directions. The opportunity to engage patients and families in the development of future research questions was partially funded through a Patient-Centered Outcomes Research Institute (PCORI) Pipeline-to-Proposal Award, administered on behalf of PCORI by Catherine Fairchild, JD, in collaboration with patient advocates Lisa Heral, RNBA, CCRC, and Amanda Konradi, PhD, and FD/MAS researchers Alison Boyce, MD, and Andrea Burke, MD, DMD.
Fairchild, President of the Fibrous Dysplasia Foundation and the Principal Investigator of the FD/MAS Patient Registry, says, “The FD/MAS Patient Registry is the first FD/MAS research project in history where families and researchers worked together to identify research objectives and to design a study that could meet those objectives. The study was painstakingly developed over several years in collaboration with leading international clinical research centers in order to optimize the scientific value of the data.”
The Fibrous Dysplasia Foundation is launching the study in collaboration with the National Organization for Rare Disorders (NORD), an independent charity that built its natural history study platform as part of its mission to help identify and treat all 7,000 rare diseases. The Fibrous Dysplasia Foundation is a member of NORD. The organizations work together to eliminate the challenges that rare disease patients face.
“NORD’s natural history studies platform empowers patients and families to drive research and eliminate some of the unknowns that still exist in rare diseases,” said NORD President and CEO Peter L. Saltonstall. “We are glad to be working with the Fibrous Dysplasia Foundation on this project and look forward to capturing the diverse experiences of patients living with this complex disease.”
To help drive awareness and participation, the Fibrous Dysplasia Foundation will engage patients and families through a multi-channel campaign that includes in-person events, print mail, email and social media. The Fibrous Dysplasia Foundation will also equip their network of expert physicians to raise awareness of the FD/MAS Patient Registry among the patients they treat.
“The success of this project is dependent on community participation. Every patient that joins the patient registry makes a difference,” said Fairchild. “We believe that by 2018 the FD/MAS Patient Registry could become the largest study of FD/MAS patients ever.”
FD/MAS is a rare somatic genetic disorder that occurs in approximately one out of every 100,000 people. Fibrous dysplasia bone lesions can occur in one, several, or many bones. Common complications of fibrous dysplasia include fractures, deformity and pain. The fibrous dysplasia bone lesions can occur in combination with skin and endocrine disease. Patients with FD/MAS may have areas of increased skin pigmentation called café-au-lait spots. Endocrine problems can include precocious puberty, hyperthyroidism, growth hormone excess, phosphate wasting, and Cushing’s syndrome. Patients may experience involvement of the gastrointestinal system, and pancreas. Patients can have one or many features of the disease, and these features can occur in any combination. FD/MAS currently has no cure.
For more information about the FD/MAS Patient Registry, visit www.fdmasregistry.org.
About Fibrous Dysplasia Foundation
The Fibrous Dysplasia Foundation was founded in 2004. The mission of the Fibrous Dysplasia Foundation is to fund and encourage research into treatments and cures for fibrous dysplasia (FD), McCune-Albright syndrome (MAS), cherubism, and related diseases; to develop information and referrals for patients living with FD, MAS, cherubism and related diseases; to promote increased awareness, knowledge and understanding about FD, MAS, cherubism and other related diseases among medical professionals; and to promote mutual support among patients and families through support groups and networking opportunities. For more information about the Fibrous Dysplasia Foundation, please visit www.fibrousdysplasia.org.
About National Organization for Rare Disorders (NORD)
The National Organization for Rare Disorders (NORD)® is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of the 7,000 rare diseases that affect 30 million Americans, or 1 in every 10 people. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 30 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research, and providing patient and family services for those who need them most. NORD represents more than 250 disease-specific member organizations and their communities and collaborates with many other organizations in specific causes of importance to the rare disease patient community.
For NORD: Jennifer Huron, [email protected], 203.304.7258