October 2010 eNews   President Obama Signs Improving Access to Clinical Trials Act On Oct. 5, President Obama signed legislation to enable people with rare diseases to participate in clinical trials without losing eligibility for public health care benefits. The Improving Access to Clinical Trials Act had passed the Senate on Aug. 5 and the House on Sept. 23. The Cystic Fibrosis Foundation first identified this barrier to clinical research, and worked with leadership of the CF Congressional Caucus to seek a solution. NORD and other patient advocacy groups joined the Foundation in this important effort. NORD to Host Medical Foods Conference in February On February 17, 2011, NORD will host a conference in Washington, DC, to focus attention on the fact that many families are struggling to provide the medical foods and special formulas needed by children and adults with certain metabolic diseases. In many cases, without these special foods, the patients would develop serious, even life-threatening, medical problems. Watch NORD’s website for information about this conference to be posted soon. Coming Soon: Ways to Get Involved in Rare Disease Day 2011 As the national sponsor for World Rare Disease Day, NORD is preparing to launch a redesigned Rare Disease Day US website, with suggested ways for individuals, patient organizations, professional societies, and companies to get involved in Rare Disease Day 2011. Those who were signed on as Rare Disease Day Partners for 2010 will receive email blasts about plans for 2011. Plans will also be shared in the November e-News. We hope all e-News readers will support Rare Disease Day on Feb. 28, 2011. Forty-six nations around the globe participated last year, and even more will do so in 2011. Rare Disease Investigators Training Course Draws More Than 100 Participants NORD co-sponsored a successful three-day course for rare disease investigators on Oct. 18-20 in Rockville, Md. More than 100 researchers attended. The course was organized by the FDA Center for Drug Evaluation and Research, the NIH Office of Rare Diseases Research, the NIH National Institute for Neurological Disorders and Stroke, and Duke University Medical Center. Janet Woodcock, MD, Director of CDER, opened the conference by stating the FDA’s commitment to advancing orphan products through the regulatory system. The same commitment to orphan product development was voiced by other FDA and NIH speakers, including Christopher Austin, MD, Director of the Clinical Genomics Center at NIH and NIH Therapeutics for Rare and Neglected Diseases (TRND). NORD President Peter L. Saltonstall said that NORD is seeking ways to replicate the course next year. He particularly thanked Anne Pariser, MD, Associate Director for Rare Diseases in CDER, for her leadership in organizing the course. Policy News Institute of Medicine Releases Report on Rare Diseases The Institute of Medicine (IOM) has released a report calling for implementing an integrated national strategy to promote rare diseases research and product development. The report, Rare Diseases and Orphan Products: Accelerating Research and Development, is the result of a two-year study commissioned by the National Institutes of Health (NIH) and the Food and Drug Administration (FDA). As a key stakeholder in the rare disease community, NORD provided input to IOM for this report. Carolyn Asbury, PhD, Vice Chair of the NORD Board of Directors, and Nancy Sung, PhD, Senior Program Officer of the Burroughs Wellcome Fund, were interviewed about the IOM recommendations for the Washington DC-based television show, “BioCentury This Week” on Oct. 24. View the interview . The full text of the report is available on the IOM Website. House Passes National Neurological Diseases Surveillance System Act The House of Representatives has passed H.R. 1362 which will establish a national data surveillance system to track and collect data on the epidemiology, incidence, and prevalence of neurological diseases. More. FDA News Last Chance to Register for November “Do A Designation” Workshop FDA’s Office of Orphan Products Development (OOPD) and the Drug Information Association (DIA) will be offering an Orphan Drug Designation Workshop that will provide a unique opportunity for all potential drug sponsors—including biotechnology companies, pharmaceutical firms and academic institutions—to create applications for orphan drug designations. NORD and Genetic Alliance are co-sponsors of the workshop, which will take place on November 4-5, 2010 at the National Conference Center in Lansdowne, Virginia. Participants will be expected to bring specific product proposals for an orphan drug that holds promise for the treatment of a rare disease. A significant portion of the workshop will be dedicated to preparing applications, including one-on-one guidance sessions with FDA staff members. FDA will keep product and disease information confidential. Final applications can be submitted to the FDA at the close of the workshop or by mail within 30 days. More. Read about OOPD. Request for Public Comment on FDA’s Draft Strategic Priorities The FDA is seeking public comment on its draft Strategic Priorities FY 2011–2015. The four strategic priorities are: (1) Advance Regulatory Science and Innovation, (2) Strengthen the Safety and Integrity of the Global Supply Chain, (3) Strengthen Compliance and Enforcement Activities to Support Public Health, and (4) Expand Efforts to Meet the Needs of Special Populations. The four strategic program goals are: (1) Advance Food Safety and Nutrition, (2) Promote Public Health by Advancing the Safety and Effectiveness of Medical Products, (3) Establish an Effective Tobacco Regulation, Prevention, and Control Program, and (4) Manage for Organizational Excellence and Accountability. FDA has identified these strategic priorities and goals that will guide its efforts to achieve its public health mission. Comments are requested by November 1, 2010. Read the Federal Register notice. Recent Orphan Drug Designations iCo Therapeutics Inc. has received orphan drug status for oral Amphotericin B program (iCo-009) to treat visceral leishmaniasis, a rare parasitic disease. Prolor Biotech Inc. has received orphan drug designation for a longer-acting human growth hormone injection to treat growth hormone deficiency. Pharmalink AB, has received orphan drug designation for its product candidate Nefecon (PL-56) to treat IgA nephropathy, also known as Berger’s Disease. Recent Drug Approvals Questcor Pharmaceuticals has received approval for Acthar Gel to treat infantile spasms. Read More. News from NORD Member Organizations Child Neurology Foundation Honors Patient Organization The Child Neurology Foundation has presented its 2010 Advocacy Award of Merit to the National Urea Cycle Disorders Foundation. The award, established in 2002, recognizes a patient support organization making outstanding achievements on behalf of patients and families with neurologic and developmental disorders. The NUCDF was honored at the recent annual meeting of the Child Neurology Society in Providence. Read about NUCDF. American Partnership for Eosinophilic Disorders (APFED) APFED is seeking applications from junior faculty (US Medical School faculty with aggregate appointments of less than 5 years) for research proposals focusing on eosinophil-associated diseases. Applications must be received by midnight November 1, 2010. One-time grant(s) of $50,000 will be awarded. Contact Kathleen Sable, APFED Director of Grants, at [email protected] . More information at www.apfed.org . GBS/CIDP Foundation International The GBS/CIDP Foundation International provides support, education and advocacy to patients with Guillain-Barre syndrome and chronic inflammatory demyelinating polyneuropathy and will hold their annual meeting November 5-7, 2010 in King of Prussia, PA. The program will offer practical information to help providers, patients and caregivers learn about GBS/CIDP and variants including diagnosis, treatment, rehabilitation, coping skills, emotional issues and latest research. More. Reflex Sympathetic Dystrophy Syndrome Association of America (RSDSA) The RSDSA is requesting applications for the Rachel Tobias Young Pain Research Investigator Award. Applicants must identify a specific project in complex regional pain syndrome (CRPS) that is achievable over the course of the funding. The fellowships will provide up to $50,000 per year for 2 years and are renewable after the first contingent on overall satisfactory progress towards project completion. Funding is intended for salary support and direct project-related expenses. Proposals are due January 1, 2011. More information. Patient Resources New patient Guide on Congenital Adrenal Hyperplasia (CAH) The Hormone Foundation has developed a patient guide on CAH that describes the variable presentation of this genetic disorder and discusses treatment options. It is advised that individuals with severe CAH carry medical identification that advises about the need for immediate injection of hydrocortisone in the event of an emergency. Read the guide. 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. Soft-Tissue Sarcoma ZIOPHARM Oncology, Inc. has initiated enrollment in its international Phase III randomized controlled trial of palifosfamide in combination with doxorubicin in subjects with metastatic soft-tissue sarcoma. The study, called PICASSO 3, is planning to enroll patients with metastatic soft tissue sarcoma who have never been treated with chemotherapy for metastatic disease. PICASSO 3 is designed to evaluate the safety and efficacy of palifosfamide administered with doxorubicin compared with doxorubicin administered with placebo. More information and eligibility criteria. Rare Disease Testing Identification of New Gene Mutations in Hereditary Sensory and Autonomous Neuropathy Type 1 (HSAN 1) HSAN 1 is characterized by loss of sensation, shooting pain in legs and feet, sensorineural deafness and profuse sweating of the hands and feet. Mutations in the first subunit of the palmitoyltransferase (SPTLC1) enzyme are known to be associated with this condition. Now, researchers have found three different mutations in the second subunit of this gene (SPTLC2) in patients with HSAN 1. This finding will allow for improved molecular diagnosis and genetic counseling for this condition. More. Research Parental Experience Having a Child with an Undiagnosed Disorder Parents in the UK who have a child with an undiagnosed disorder participated in an interview study documenting their emotional and social experiences. Many of the challenges and uncertainties experienced are shared with families who have a child with a known diagnosis. However, many parents described the added burden and complexity of planning for their child’s future in the face of an unknown diagnosis. Undiagnosed disorders in children often result in ongoing frustration, both with acceptance of the disorder and in coping with medical, educational and lifestyle decisions. More. Treatment Possible New Treatment for Patients with Advanced Pancreatic Neuroendocrine Tumors (pNET) pNET is a rare form of pancreatic cancer that is less aggressive than adenocarcinoma, but treatment options are limited. Results of an international Phase lll randomized trial presented at the meeting of the European Society for Medical Oncology indicated that everolimus may improve progression-free survival (PFS) for this cancer. Everolimus is an immunosuppressant that appears to exhibit antitumor activity by inhibiting the mTOR protein responsible for tumor cell division. 410 patients participated in the trial and were randomized to receive everolimus or placebo. The treatment group showed a 65% reduction in the risk of disease progression and an increase in PFS of more than 6 months. Read the Abstract (LBA9) . Upcoming Meetings and Webcasts Center for Clinical Information and Study on Clinical Research participation (CISCRP) CISCRP, a non-profit organization dedicated to informed decision-making regarding clinical trial participation, will conduct a National AWARE for All Webcast on November 6, 2010 from 12-2 EST. Participants will learn what clinical trials are and how they work; why society needs clinical research; the safety, benefits and risks of clinical research; and what questions to ask your doctor before participating. Registrants can view the presentation on their home computer or can receive a DVD. More information and registration. Miscellaneous November is National Family Caregivers Month The National Family Caregivers Association coordinates the national observance of Family Caregivers Month each year in November to thank, support, educate, and empower family caregivers. NORD salutes family caregivers and supports this special observance. Read about plans for 2010. Final Meeting of Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS) SACGHS has fulfilled its mandate and held its final meeting October 5-6, 2010. The committee has reported to the Secretary of Health and Human Services since 2002 regarding new developments in the integration of genetics into clinical practice and public health. More. EveryLife Art Contest: Empowering Artists Affected by Rare Diseases The Kakkis EveryLife Foundation is inviting artists to participate in the Second Annual EveryLife Art Contest. The competition is open to all artists affected by a rare disease ages five and older, as well as close friends, family members or care-takers of those with a rare or undiagnosed disease. Entries must be received by 5pm PST on Friday January 7, 2011. More information. NORD has been given a top (4-star) rating by a leading independent evaluator of nonprofit organizations, Charity Navigator. The 4-star rating honors charities that “consistently exceed standards and outperform most others” in effective use of donated funds.

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