Forward this to a friend April 2011 eNews New Consortium Promotes Global Approach to Rare Diseases NORD and other patient advocates participated in the recent launch in Washington, DC of a new international consortium to promote global collaboration on rare diseases and orphan products. The International Rare Disease Research Consortium (IRDiRC) has set some ambitious goals, including the development of 200 new rare disease treatments by the year 2020 and the development of diagnostics for all rare diseases. Read more. Supreme Court Considers Limits on Prescription Data The Supreme Court this week is considering whether states (and, in particular at this time, the state of Vermont) should be allowed to limit the use by pharma companies of data on physician prescribing habits for marketing purposes. NORD and Genetic Alliance have filed an amicus brief in this case, arguing that the use of this kind of information helps companies recoup their investment in new drugs. Read Wall Street Journal blog. Pew Study Further Documents Importance of Internet for Rare Disease Patients and Families A study by the Pew Internet and American Life Project has added new data to show that people with rare diseases, and those caring for someone with a rare disease, are among the most motivated users of the Internet. A report recently released by Pew was based on a national telephone survey of 3,001 adults and an online survey of 2,156 members of NORD. Read more. NORD to Honor Rare Disease Pioneers at May 17 Celebration NORD will honor two members of Congress, patient advocates, medical researchers, and companies that have brought orphan products to market at its 2011 Partners in Progress Celebration on May 17 in Washington DC. Read the press release. Boston Marathon Runners Raise Money for NORD For the fourth consecutive year, a group of Genzyme employees ran the Boston Marathon on behalf of NORD. This year, the team raised $40,000 for programs to benefit rare disease patients and families. To promote awareness of rare diseases, each team member was paired with a patient partner, to whom the run was dedicated. In addition, team leader Phil Maderia served as a guide for an Australian runner representing the stiff person community. NORD will honor the team at its Partners in Progress Celebration on May 17. Read the team blog and view photos. SSA Publishes Rules for Evaluating Endocrine Disorders The Social Security Administration has published final rules for evaluating endocrine disorders in both adults and children who apply for, or receive, Social Security disability benefits or Supplemental Security Income payments based on disability. These rules will become effective on June 8, 2011, and will remain effective for five years unless they are revised, reissued or extended. Read the rules in the Federal Register. FDA News Recent Drug Approvals Vandetanib, manufactured by AstraZeneca, has been approved for the treatment of medullary thyroid cancer. More. Horizant (gabapentin enacarbil), developed by GlaxoSmithKline and XenoPort, has been approved as a once-daily treatment for moderate-to-severe restless legs syndrome. Read the press release. Actemra (tocilizumab), marketed by Genentech, has been approved as the first treatment for active systemic idiopathic arthritis (SJIA) in children ages 2 years and older. This medication was previously approved to treat adults with moderate to severe active rheumatoid arthritis who did not respond to other approved therapies. Read the press release. Rituxan (rituximab), manufactured by Genentech, has been approved (in combination with corticosteroids) as the first treatments for Wegener’s granulomatosis and microscopic polyangitis. Both disorders cause blood vessel inflammation (vasculitis). This medication was previously approved to treat patients with non-Hodgkin’s lymphoma, chronic lymphocytic leukemia and rheumatoid arthritis. Read the press release. Medical Device Approvals The NovoTTF-100A System, manufactured by Novocure, has been approved to treat adults with glioblastoma multiforme, a brain tumor highly resistant to standard treatments such as surgery, radiation and chemotherapy. The device contains electrodes that deliver low-intensity, electrical fields to the tumor site that help to halt growth of the tumor. Read the press release. Recent Orphan Drug Designations Amira Pharmaceuticals has received orphan drug designation for AM 152, an experimental therapy that blocks a protein receptor involved in tissue hardening, for the treatment of idiopathic pulmonary fibrosis. News from NORD Member Organizations Alpha-1 Association The Alpha-1 Association will celebrate its 20th anniversary at a national conference in St. Paul, MN, June 10-12. The deadline for registration is May 9 and the deadline for hotel reservations is May 16. More information and registration. American Partnership for Eosinophilic Disorders (APFED) APFED’s 9th annual patient education conference will be held July 8-10, 2011, in Greenville, SC. The host institution, University of South Carolina School of Medicine and Greenville Hospital System University Medical Center will also offer a program for physicians on Friday, July 8, for continuing medical education (CME) credits. Both conferences will feature new developments in eosinophil-associated gastrointestinal disease diagnosis, treatment, and research. Click here to register APFED members please log in to apfed.org first to receive your discount access code before registering. Cystinosis Research Network (CRN) The CRN has announced that its 5th Annual Family Conference will be held July 14-16 at the Hotel Nikko in San Francisco. Participants will learn more about new research findings, receive updates from cystinosis organizations from around the world, meet and renew friendships with other families, have the opportunity to participate in research studies, and interact with many of the world expert clinicians treating and researching cystinosis today. Mary Cobb, NORD Senior Vice President for Membership and Organizational Strategy, will be a featured speaker during the conference, highlighting NORD’s activities on behalf of the rare disease community. More information and registration. National Niemann-Pick Disease Foundation (NNPDF) The NNPDF has announced that its 19th Annual NNPDF Family Support and Medical Conference will be held July 28-31 in Norfolk, VA. The conference offers families the opportunity to hear the latest news and information directly from the top experts in Niemann-Pick disease, and to network with other families who share similar challenges. More information and registration. Sturge-Weber Foundation (SWF) The 12th SWF International Conference will be held July 17-19, 2011 in Orlando, FL. This conference will bring together families and dedicated clinicians and scientists to improve the quality of life for those affected by Sturge-Weber syndrome, Klippel-Trenaunay syndrome and port wine birthmark conditions. More information and registration. Patient and Family Resources Familial Pulmonary Fibrosis (PF) Genetic Counseling and Support Program The Coalition for Pulmonary Fibrosis, The Pulmonary Fibrosis Foundation, and National Jewish Health have partnered to establish a toll-free support line for questions regarding the genetics of PF. A certified genetic counselor with experience in PF is available at 1-800-423-8891, ext. 1097. Researchers have recently documented that mutations in the MUC5B gene are associated with an increased risk for developing familial PF and idiopathic PF. More. Patient Recruitment Anyone considering participating in a clinical trial should discuss the matter with his or her physician. NORD does not endorse or recommend any particular studies. Giant Axonal Neuropathy (GAN) A natural history study of GAN sponsored by Hanna’s Hope Fund is being conducted by Dr. Maria Escolar of the Neurodevelopment Function in Rare Disorders Program at the University of North Carolina at Chapel Hill, NC. Those interested in participating in the study should contact Lori Sames at [email protected] Urea Cycle Disorders (UCD) A clinical trial called SELICA III sponsored by Cytonet is designed to evaluate the safety and efficacy of liver cell therapy in infants and children up to age 5 with UCD. Liver cell therapy involves collecting healthy cells from donated livers not suitable for transplantation (obtained from U.S. organ procurement organizations) which are then isolated and undergo complex processing. These cells are infused into the hepatic portal vein over six days. Researchers seek to enroll 20 patients in 12 medical centers. More information. Severe Combined Immunodeficiency, X-linked (SCID-X1) The Transatlantic Gene Therapy Consortium (TAGTC) is recruiting patients for its first trial using somatic gene therapy to treat patients with SCID-X1. The TAGTC was established after the first trials of gene therapy for SCID reported leukemia as a serious side effect. The focus of this new trial is to improve the safety of the viral vector used to deliver the genes into cells and correct the genetic defect that causes the most common form of SCID. More. Research RNA Processing Defect Underlies Rare Type of Dwarfism Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a rare developmental disorder prevalent in the Ohio Amish population that results in brain, organ, and limb abnormalities and early death. Researchers have discovered that mutations in a gene for a small RNA molecule responsible for removing pieces of genetic material that do not code for protein (introns) can cause this disease. Mutations in the RNU4ATAC gene were found to greatly reduce splicing activity of the RNA molecule so introns are not accurately spliced out. More. International News Symposium Focuses on Rare Disease Challenges in Australia A rare diseases symposium, “Awakening Australia to Rare Diseases”, took place in Fremantle, Western Australia, April 17-20. Representatives of NORD, EURORDIS, Genetic Alliance, and OrphaNet were among the presenters. Building on work begun by the Human Genetics Society of Australia and the Australian Paediatric Surveillance Unit, the symposium was organized by a national committee looking at possible development of a strategic plan for rare diseases in the state of Western Australia and, ultimately, a national plan for Australia. View the program. Upcoming Meetings and Webcasts Drug Shortages in the Treatment of Rare and Orphan Diseases: Challenges, Compromises, and Choices Recently, drug shortages have affected patients with rare diseases including Pompe, Fabry and Gaucher diseases. This meeting on June 23 will examine the role of industry, regulators, and health-care providers in managing drug shortages for rare diseases. Topics will include description of the incentives and obligations for industry sponsors provided by the Orphan Drug Act and exploration of the ethical issues associated with different strategies used to address orphan drug shortages. Anne R Pariser, MD, Associate Director for Rare Diseases at the FDA, is a scheduled speaker. More. Translational Opportunities for the Heritable Disorders of Connective Tissue (HDCT) A meeting hosted by the Shriners Hospitals for Children will be held July 10-14 in Portland, OR, to address the research needs of individuals and families with HDCT. Participants will hear the newest research developments in HDCT and will discuss opportunities and strategies to translate research into clinical practice. With the help of participants, the organizers will prepare a summary of recommendations to guide translational research in this area over the next five years. The Coalition for Heritable Disorders of Connective Tissue, the National Marfan Foundation, and the International Federation of Marfan Syndrome Organizations are coordinating the meeting. More information and registration. Miscellaneous Center for Medicare and Medicaid Innovation Seeks Ideas The Innovation Center was established by the Affordable Care Act to identify, test and spread new models of care and payment to deliver better healthcare, better health and reduced costs for CMS beneficiaries. The Innovation Center is looking for suggestions about building the new Center and identifying ways that healthcare can be delivered and paid for. The most promising ideas will be incorporated into the payment and care delivery models tested by the Center. Submit your idea.

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