NATIONAL COALITION FOR OSTEOPOROSIS AND RELATED BONE DISEASES

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1 NATIONAL COALITION FOR OSTEOPOROSIS AND RELATED BONE DISEASES Fact Sheet FY 2007 What is the Mission of the Bone Coalition? The National Coalition for Osteoporosis and Related Bone Diseases is dedicated to increasing federal research funding for bone diseases through advocacy and education. Who are the Coalition Participants? The participants are leading national bone disease organizations: American Society for Bone and Mineral Research a non-profit medical and scientific society of 4,000 members established to bring together clinical and basic scientists who study bone and mineral metabolism. The ASBMR mission is to promote excellence in bone and mineral research, foster integration of clinical and basic research, and facilitate the translation of that science to health care and clinical practice. ASBMR hosts the premier annual scientific meeting, and publishes the field s highest impact journal and textbook. National Osteoporosis Foundation (NOF) is the nation s leading voluntary health organization solely dedicated to osteoporosis and bone health. NOF s mission is to prevent osteoporosis, to promote lifelong bone health, to help improve the lives of those affected by osteoporosis and related fractures and to find a cure. NOF achieves its mission through programs of awareness, advocacy, public and health professional education and research. Osteogenesis Imperfecta Foundation the only national voluntary health organization dedicated to improving the quality of life for people with osteogenesis imperfecta (OI), through research to find treatments and a cure, education, awareness, and mutual support. To accomplish the Foundation s mission, staff and volunteers balance the dual demands of funding biomedical research and providing support to help people with OI and their families cope with daily life. The Paget Foundation for Paget's Disease of Bone and Related Disorders, a voluntary health agency founded in 1978, addresses several disorders including Paget s disease of bone, primary hyperparathyroidism, the rare disorders fibrous dysplasia and osteopetrosis and the complications of certain cancers of the skeleton. Foundation programs include educational publications and programs for patients and health professionals and research grants. Description of Osteoporosis, Paget's Disease of Bone and Osteogenesis Imperfecta OSTEOPOROSIS, or porous bone, is a disease characterized by low bone mass and structural deterioration of bone tissue, leading to bone fragility and an increased susceptibility to fractures of the hip, spine, and wrist.

2 PAGET'S DISEASE OF BONE is a chronic skeletal disorder that may result in enlarged or deformed bones in one or more regions of the skeleton. Excessive bone breakdown and formation can result in bone that is dense, but fragile. Complications may include arthritis, fractures, bowing of limbs, and hearing loss if the disease affects the skull. OSTEOGENESIS IMPERFECTA (OI) causes brittle bones that break easily due to a problem with collagen production. For example, a cough or sneeze can break a rib, rolling over can break a leg. There are four recognized types of OI, representing extreme variations in severity and affecting 20,000 to 50,000 people in the United States. Besides fragile bones, people with OI may have hearing loss, brittle teeth, short stature, skeletal deformities, and respiratory difficulties. Social and Economic Impact of Bone Diseases Osteoporosis is a major public health threat for 44 million Americans. Of the 10 million who have osteoporosis, 80 percent are women. A woman's risk of hip fracture is equal to her combined risk of breast, uterine and ovarian cancer. Therefore a woman is more likely to experience hip fracture than these three forms of cancer. Today, 2 million men have osteoporosis and almost 12 million more are at risk for the disease. Men with low levels of testosterone are especially at risk. This includes men being treated with certain medications for prostate cancer. Men suffer one-third of all hip fractures that occur and approximately one-third of these men will not survive more than one year after the fracture. Women of all ethnic groups are at risk for osteoporosis. The percentages of women age 50 and older by selected ethnic groups with osteoporosis are: 20% of non-hispanic white and Asian women 10% of Hispanic women 5% of non-hispanic black women In addition, 49% of Hispanic women and 35% of black women have low bone mass. Studies show that the estimated national direct expenditures (hospitals and nursing homes) for osteoporotic fractures annually are up to $18 billion dollars (in 2002 dollars) and the cost is rising. Indirect costs likely add billion of dollars to this figure. Osteoporosis is responsible for more than 1.5 million fractures annually, including Over 300,000 hip fractures 700,000 vertebral fractures 250,000 wrist fractures 300,000 fractures at other sites Osteogenesis Imperfecta (OI) affects between 20,000 and 50,000 Americans. In severe cases fractures occur before and during birth. In some cases, an affected child can suffer repeated fractures before a diagnosis can be made. Undiagnosed OI may result in accusations of child abuse. 2

3 Paget s disease of bone, the second most prevalent bone disease after osteoporosis, is associated with bone pain, deformity, neurological complications, and arthritic conditions. Prevalence in the population ranges from 1.5 percent to 8 percent depending on the person s age and geographical location. Paget s disease primarily affects people over 50. A frequent complication of cancer is its spread to bone (bone metastasis) that occurs in up to 80 percent of patients with myeloma, 70 percent of patients with either breast or prostate cancer, and 15 to 30 percent of patients with lung, colon, stomach, bladder, uterine, rectal, and renal cancer causing severe bone pain and pathologic fractures. Only 20% of breast cancer patients and 5% of lung cancer patients survive more than 5 years after discovery of bone metastasis. How has Bone Research Helped People? Research has taught us how many Americans have low bone mass and therefore are at risk for osteoporosis (44 million either have the disease or are at risk). These individuals can then address their risk with exercise, diet, other behavioral and lifestyle changes, and medication, as appropriate. Research has found that without intervention one in two women and one in four men age 50 and above will experience a fracture due to osteoporosis. Intervention reduces the incidence of future fracture thereby improving quality of life. Research has led us to develop simple, non-invasive and accurate tests that can determine bone mass and help predict future fracture risk. These tests also allow us to monitor the impact of treatment. Research has identified and demonstrated a variety of drugs that can reduce bone loss and fractures, and even build new bone. Thirty years ago, there was no treatment for osteoporosis. Research has led to a better understanding of calcium metabolism and, as a result, manufacturers of a variety of food products have fortified their products with this vital nutrient. Research has shown the necessity of vitamin D, protein, iron, and other nutrients, in building and maintaining strong bones, while also emphasizing a major public health problem of vitamin D deficiency. Research has helped us to understand the need for weight-bearing exercise to build and maintain bone in order to reduce fracture risk. Falling can be reduced by strength-building exercise that increases balance and flexibility. Research has also identified genetic components responsible for many bone diseases, paving the way for the development of genetic approaches for diagnosis and treatment. Research has decreased fracture risk and extended the lifespan for people with OI to normal. Research has identified drugs which improve the quality of life of people whose cancer has metastasized to bone. 3

4 What are the Future Opportunities for Bone Research? Diagnostics/Imaging DXA is an imaging test that measures bone mineral density (BMD). It is the gold standard for predicting fracture risk, yet it can either under-diagnose or over-diagnose patients at risk. Moreover, DXA uses databases that are largely based on BMD scores of white women. Relating BMD scores to fracture risk for women of other racial groups and ethnicities and doing the same for men is even more imprecise. New diagnostic measures are required to predict fragility and fracture risk better through three dimensional imaging of both the entire and the internal micro-structure of bone. Current approaches under development may lead to virtual biopsies using computer modeling to avoid invasive procedures and provide critical information about bone strength and fracture risk. Treatment/Pharmacotherapy Much attention has been focused on the Women s Health Initiative study results and the risks involved in estrogen treatment. However, more information is needed about low-dose estrogen and its bone-protective benefits and risks. J Bone Miner Res :15:21. Reprinted with permission of the American Society for Bone and Mineral Research Most current drug treatments for osteoporosis work by slowing down the natural process of bone breakdown. Parathyroid hormone (PTH) actually builds bone (see above). However, we need more studies to learn how best to use the drugs currently available, for what populations, with or after what drug regimens, for how long, and how best to assess response and interaction with exercise and diet. The discovery of new molecules with unexpected roles in modulating bone mass points the way to development of other new therapies. One example is leptin, a molecule made by fat cells. 4

5 A five-year observational study suggested that regular intravenous doses of pamidronate (a bisphosphonate) helped increase bone mineral density, reduce fractures, increase mobility, and decrease bone pain in children with osteogenesis imperfecta. Controlled clinical drug therapy trials will enable assessment of the potential use of bisphosphonate drugs to improve quality of life for children and adults. The discovery that tumor cells increase the number of bone resorbing cells called osteoclasts has led to the use of drugs called bisphosphonates that improve the treatment and quality of life for cancer patients with bone metastasis. However, further research is needed to study the pathology of bone disease in breast cancer, prostate cancer and multiple myeloma. Research is needed to improve survival and quality of life and to prevent metastatic osteosarcoma for the approximately 600 children and teenagers in the U.S. who develop this cancer. Specifically, research is needed to: Identify new intervention targets for therapy; Develop better predictors of response to osteosarcoma treatment; Develop in vivo and in vitro preclinical assays to improve treatment; Study metastatic osteosarcoma biology compared to biology of normal bone cells and that of other cancer cells. Novel Approaches Investigations into genetic approaches for bone disease are critical and stem from recent findings that bone doesn t form when a protein called Cbfa-1 or one called Osterix is missing. Understanding how these proteins are activated or turned on may lead to new therapies for bone disease. The identification and study of families with very high bone mass who never fracture have led to the discovery of the involvement of the "Wnt pathway" in regulating bone mass. This pathway has not only become a potential therapeutic target for controlling skeletal mass, but has recently been implicated in the bone loss experienced in multiple myeloma (a bone- and blood-related cancer). Understanding the role of genes and the underlying abnormal functioning of cells involved in bone breakdown in patients with Paget s disease is critical to developing new treatments. We need additional investigation to understand the role the bone microenvironment plays in the development of Paget s disease and to identify the molecular processes involved. Bone marrow transplantation is being tested in the laboratory for the treatment of osteogenesis imperfecta. One technique requiring further development focuses on genetically engineering bone precursor cells, which reside in the bone marrow, so that the faulty osteogenesis imperfecta gene which causes frequent fractures would be blocked or turned off. Then these engineered cells could be transplanted back into the bone marrow to form healthy bone. The potential for genetic therapy to cure osteogenesis imperfecta has been demonstrated in the test tube. Suppressing the gene that causes the mutant collagen must now be demonstrated in animal models. Genetic profiling may help to identify individuals susceptible to bone diseases such as osteoporosis so that preventative treatment can be initiated before the individual develops the disease. 5

6 For additional information contact: Ann Elderkin, P.A. American Society for Bone and Mineral Research 2025 M St., NW, Suite 800 Washington, DC 20036, USA (202) aelderkin@asbmr.org Website: Roberta Biegel National Osteoporosis Foundation nd Street, N.W. Washington, DC (202) roberta@nof.org Website: Heller An Shapiro Osteogenesis Imperfecta Foundation 804 WestDiamond Avenue, Suite 210 Gaithersburg, MD (301) hshapiro@oif.org Website: Charlene Waldman The Paget Foundation for Paget's Disease of Bone and Related Disorders 120 Wall Street, Suite 1602 New York, NY (212) CharleneWaldman@aol.com Website: 6