February 28th marks the sixth annual international Rare Disease Day . There are an estimated 350 million people affected by rare diseases worldwide, which in the United States (U.S.) is classified as those diseases affecting fewer than 200,000 persons1. According to RareDisease.org, there are more than 6,000 rare diseases affecting more than 60 million people in Europe and the U.S. alone.2 Coordinated by the European Organization for Rare Diseases (EURODIS) and organized with national rare disease alliances in 24 countries, hundreds of organizations from more than 60 countries and regions are planning awareness-raising activities around this year’s Rare Disease Day theme of “Rare Disorders Without Borders.3”
Here at Amgen, we are committed to advancing science and developing treatments for patients with serious illness, including many rare diseases. For those staff members working toward bringing these therapies to patients and the medical community, Rare Disease Day is a reminder of the extraordinary need and the potential impact for these therapies. Some of Amgen’s therapeutic areas of interest include:
Giant Cell Tumor of the Bone
Giant cell tumor of the bone (GCTB) is a rare, benign, locally-aggressive tumor4 that occurs in approximately one person per million per year.5 These tumors are associated with significant skeletal complications and symptoms including fractures and pain.5 Surgery is the primary therapy for GCTB. Unfortunately, surgery for GCTB may require considerable removal of bone tissue and recurrence rate can vary between 10 percent to 75 percent.4
Advanced melanoma refers to melanoma, a type of skin cancer, that has spread from its original lesion site to deeper parts of the skin, and eventually to other parts of the body.6 Melanoma accounts for approximately five percent of skin cancer cases in the U.S., but it causes the most skin cancer deaths.7 Despite new treatments, advanced melanoma remains a devastating and difficult to treat disease with poor prognosis overall, resulting in a significant unmet need for additional treatment options.
Acute Lymphoblastic Leukemia
Acute lymphoblastic leukemia (ALL) is an aggressive cancer of the blood and bone marrow. The disease progresses rapidly and affects immature blood cells.8 Of the 42,000 people diagnosed worldwide, 31,000 will die from the disease.9 Patients respond to current treatment options in different ways and 50 to 60 percent of patients will relapse following first-line therapy.10,11 Also, during the first-line phase, 15 to 20 percent of patients fail to respond to treatment.10,12
- What is a rare disease? http://www.rarediseaseday.org/article/what-is-a-rare-disease Accessed February 26, 2013.
- Rare disorders with borders! http://www.rarediseaseday.org/article/rare-disorders-solidarity-has-no-border Accessed February 26, 2013.
- About the day. http://www.rarediseaseday.org/article/about-rare-disease-day Accessed February 26, 2013.
- Thomas D, Henshaw R, Skubitz K, et. al. Lancet Oncol. 2010;11:275–280.
- Giant Cell Tumor of Bone. American Academy of Orthopaedic Surgeons website. http://orthoinfo.aaos.org/topic.cfm?topic=a00080 . Accessed February 7, 2012.
- What You Need To Know About Melanoma and Other Skin Cancers. National Cancer Institute. http://www.cancer.gov/cancertopics/wyntk/skin . Accessed February 7, 2012.
- Melanoma Skin Cancer Overview. American Cancer Society. http://www.cancer.org/acs/groups/cid/documents/webcontent/003120-pdf.pdf . February 7, 2013.
- Definition of Acute lymphocytic leukemia. Mayo Clinic. http://www.mayoclinic.com/health/acute-lymphocytic-leukemia/DS00558 . Accessed February 7, 2012.
- World. Globocan 2008 website. http://globocan.iarc.fr . Accessed February 7, 2012.
- Oriol A, et al. Outcome after relapse of acute lymphoblastic leukemia in adult patients included in four consecutive risk-adapted trials by the PETHEMA Study Group. Haematologica. 2010; 98(4):589-596.
- Annino L, et al. Treatment of adult acute lymphoblastic leukemia (ALL): long-term follow-up of the GIMEMAALL 0288 randomized study. Blood. 2002; 99:863-871.
- Goekbuget N and Hoelzer D. Treatment of Adult Acute Lymphoblastic Leukemia. Sem Hematol. 2009;46:64-75