NORD February 2011 eNEWS


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February 2011 eNews

Countdown Begins to Rare Disease Day 2011

Across the nation and around the world, the rare disease community is preparing for Rare Disease Day 2011. To show your support, click on the countdown device to get a version that you can post on your website or blog. If you haven’t done so lately, be sure to visit the U.S. Rare Disease Day website and the global Rare Disease Day site to see what’s happening in the U.S. and around the world for this special day.

U.S. Senate Approves Rare Disease Day Resolution

Senator Sherrod Brown (D-OH) has sponsored, and Senator John Barrasso (R-WY) co-sponsored, a resolution agreed to without amendment by Unanimous Consent on February 17 designating February 28, 2011, Rare Disease Day across the U.S. Read the Resolution.

NORD and EURORDIS Launch 5th Rare Disease Online Community

NORD and its European partner, EURORDIS, this week launched the fifth online global community in their initiative to promote global collaboration. The new community is for individuals and families affected by aHUS (atypical hemolytic uremic syndrome), a rare autoimmune disorder. These communities are moderated and driven by disease-specific patient organizations, with support from NORD and EURORDIS. They feature translation of posts into any of five languages: English, French, German, Italian, and Spanish. More.

Senator Casey Introduces Creating Hope Act

Senator Robert P. Casey Jr. (D-PA) last week introduced the Creating Hope Act to spur increased research and development of treatments for children. With thousands of pediatric rare diseases currently without treatments, this legislation is potentially very important to the rare disease community. NORD has contacted Sen. Casey to let him know we support the bill, and we encourage our members and friends to contact their Senators asking them to co-sponsor this important bill.

Senator Kerry Reintroduces Medical Foods Equity Act

The Medical Foods Equity Act of 2011 introduced by Senator John Kerry (D-MA) and co-sponsored by Senators Robert P. Casey Jr. (D-PA) and Robert Menendez (D-NJ) will direct Federal health programs and private insurers to cover medically necessary foods, low-protein foods, and pharmacological doses of vitamins and amino acids for the treatment of inborn errors of metabolism and other rare conditions. This reflects recommendations of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Every year, a few thousand children are born with these rare conditions. Without these special foods, vitamins and amino acids, these children may become profoundly mentally and physically handicapped.

NORD supports this legislation and encourages its members and friends to ask their Senators to cosponsor the Medical Foods Equity Act. Call the Capitol switchboard at (202) 224-3121 to reach Senate offices. Members of Congress also may be contacted through NORD’s website.

NORD Hosts Medical Foods Conference

On February 10, NORD hosted a Medical Foods Conference in Washington DC to focus attention on access problems related to the special foods that are a necessary part of treatment for people with certain IEMs and other rare diseases. A coalition is now being formed to move forward on several fronts.

Speakers included representatives of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, Food and Drug Administration, Society for Inherited Metabolic Disorders, North American Society for Pediatric Gastroenterology, National PKU Alliance, Genetic Metabolic Dietitians International, and American Partnership for Eosinophilic Disorders. A member of Senator Kerry’s staff delivered luncheon remarks about the Medical Foods Equity Act (see above). Conference presentations will be posted this week on the NORD website.

Senator Franken Hosts Teleconference for Rare Disease Families

Senator Al Franken (D-MN) conducted a 45-minute informal teleconference with representatives of NORD and its Minnesota-based Member Organizations on February 21. Originally planned as a face-to-face meeting, the event had to be changed to a teleconference because of a snowstorm. Participants included representatives of the National Ataxia Foundation, Klippel-Trenaunay Support Group, Immune Deficiency Foundation, and Primary Ciliary Dyskinesia Foundation.

The patient advocates told Senator Franken about problems they encounter related to off-label treatment. They also emphasized the importance of funding for research on rare diseases and specifically mentioned the important roles of the NIH Office of Rare Diseases Research and FDA Office of Orphan Products Development.

Last Week to Vote for College Football Rare Disease Champion

Uplifting Athletes, a nonprofit organization that aligns college football with rare diseases, has selected five finalists for its annual rare disease champion award. The award recognizes figures from college football who have had a positive impact on the rare disease community. This is the last week to vote. Details.

NIH News

Rare Disease Day Observed at NIH Clinical Center

The National Institutes of Health (NIH) will mark the Forth Annual Rare Disease Day on February 28 with a full day program highlighting rare disease research activities. The event runs from 8:30 am-5:15 pm at the NIH Clinical Center Lipsett Amphitheater and is open to the public and media. Pre-registration is encouraged. More information.

William Gahl Receives American Medical Association’s Highest Award

William A. Gahl, MD, PhD, clinical director of the National Human Genome Research Institute (NHGRI) received the Dr. Nathan Davis Award for Outstanding Government Service for establishing the NIH Undiagnosed Diseases Program (UDP). Dr. Gahl is a clinician and researcher with extensive expertise in rare inborn errors of metabolism having published more than 280 articles, reviews and book chapters. He is the first Davis Award honoree from the NHGRI. More.

UDP Identifies Genetic Cause of Rare Vascular Disease

The NIH Undiagnosed Diseases Program has identified a mutation in the NT5E gene as the cause of arterial calcification due to CD73 deficiency (ACDC). This is a rare adult-onset disorder that involves accumulation of calcium in the arteries below the waist and in joints of hands and feet causing extreme pain and affecting mobility. NIH clinical researchers examined members of two families with this disorder that were referred to the UDP. More.

NHGRI: Genetic Basis of Most Single-Gene Disorders to be Identified Within Decade

The NHGRI has put forth a strategic plan that predicts scientists will be able to identify the genetic basis of most single-gene disorders in the next decade. Knowledge about molecular pathways gleaned from this process may provide important information for the diagnosis and treatment of common diseases as well. The plan outlines the foci of research to include basic research about how the genome is organized and functions, tools to interpret the genome in order to improve patient care, technology to measure gene/environment/behavior interaction, and educational efforts for health professionals and the public about interpreting genomic information. More.

FDA News

Recent Drug Approvals

Corifact, manufactured by CSL Behring, has been approved for the treatment of congenital factor XIII deficiency. More.

Recent Orphan Drug Designations

BioSante Pharmaceuticals, Inc. has received orphan drug designation for its melanoma cancer vaccine for the treatment of stage IIb to IV melanoma.

Mobius Therapeutics LLC has received orphan drug designation for Mitosol to treat pterygium.

Bayer has received orphan drug designation for regorafenib for treatment of gastrointestinal stromal tumors.

Neuralstem Inc. has received orphan drug designation for its stem-cell based treatment for amyotrophic lateral sclerosis.

BrainStorm Cell Therapeutics Inc has received orphan drug designation for its NurOwn autologous stem cell product for the treatment of amyotrophic lateral sclerosis.

Cerus Corporation has received orphan drug designation for plasma prepared with the INTERCEPT Blood System for treatment of thrombotic thrombocytopenic purpura.

miRagen Therapeutics has received orphan drug designation for its compound MGN-4893 for the treatment of polycythemia vera.

News from NORD Member Organizations

American Brain Tumor Association (ABTA)

The ABTA is accepting applications for the 2011 Medical Student Summer Fellowship program, a 10-12 week experience in a neuro-oncology laboratory for students interested in brain tumor research. Each Summer Fellow will receive a $3,000 stipend. Applications are due March 14, 2011. Information and application.

International Myeloma Foundation (IMF)

The IMF is hosting three upcoming Patient & Family Seminars. Emphasizing education, advocacy and support, these seminars empower patients and provide invaluable information to the myeloma community. Seminars will be held in San Francisco, March 11-12; Dallas, July 15-16; and Philadelphia, August 26-27. More information.

National Marfan Foundation (NMF)

The NMF will hold its Heartworks Gala on April 7, 2011 in New York City. More information.

National Foundation for Ectodermal Dysplasias (NFED)

The NFED will begin its National Family Conference on July 20, 2011 in St. Louis, MO with a Gala honoring Mary K. Richter who founded the organization and recently retired after 30 years as executive director. 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.

Neuronal Ceroid Lipofuscinosis

The Oregon Health & Science University (OHSU) Doernbecher Children’s Hospital has begun a Phase Ib clinical trial sponsored by StemCells, Inc. for neuronal ceroid lipofuscinosis (NCL, also often known as Batten disease). NCL is a rare, fatal lysosomal storage disorder that afflicts infants and young children. The Phase Ib trial is designed to assess the safety of purified human central nervous system stem cell (HuCNS-SC®) transplantation in patients with NCL and to investigate if these cells impact the progression of the disease. Patients aged 6 months to 6 years, with either the infantile or late infantile forms of NCL may be eligible for enrollment. For more information on patient screening and enrollment for this trial, please call (503) 418-4495 to speak with the clinical trial coordinator at OHSU or send an email to Susan Lattimore at [email protected]. Additional information is also available at or

Rare Disease Testing

New Gene Identified for Congenital Myasthenic Syndrome (CMS)

CMS is a group of rare genetic conditions caused by problems at the neuromuscular junction, affecting the signals between the brain and muscles. These conditions are variable in severity but can be associated with paralysis and reduced life expectancy. A new variation of CMS has been defined caused by mutations in the GFPT1 gene that usually develops in the first ten years of life and affects muscle strength and control in hips, shoulders, arms and legs. Identification of this gene may allow earlier diagnosis and treatment with cholinesterase inhibitors. More.

Blood Test for Variant Creutzfeldt-Jacob Disease (vCJD) Developed

Diagnosis of vCJD is usually made only after brain damage has occurred. Prion proteins cause this condition, but can remain dormant in an infected individual for many years before symptoms begin. An accurate, early diagnostic test for vCJD could allow efficient screening of blood donors and potential earlier diagnosis of affected individuals. A new blood test has been developed that is 100,000 times more sensitive than previous methods. Additional studies are needed to determine the sensitivity and specificity of the test. More.

Gene Mutation Associated with Ebstein’s Anomaly

Ebstein’s anomaly is a rare congenital heart defect in which the valve between the right ventricle and right atrium is abnormal. Some affected individuals also have left ventricular noncompaction (LVNC) which is associated with heart failure and sudden cardiac death. Researchers have found that mutations in the MYH7 gene are associated with Ebstein’s anomaly, especially in patients who also have LVNC. Family members of these patients may benefit from cardiac evaluations and genetic testing for MYH7 gene mutations. More.

International News

Rare Disease UK (RDUK) Report Documents Experiences of Rare Disease Patients

The RDUK report “Experiences of Rare Diseases: An Insight from Patients and Families” is based on a survey of almost 600 patients with rare diseases and their family members. Topics included access to information and support, coordination of care, access to treatment, diagnosis, and participation in research. Participants expressed similar problems in accessing care, information, support and treatment. The report will be used to develop recommendations for a strategy for rare diseases in the UK, expected to be released in conjunction with Rare Disease Day 2011. Read the report.

Upcoming Meetings and Webcasts

Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee to FDA

This public advisory committee to the FDA will meet on March 8 and 9 to discuss and make recommendations on scientific issues concerning direct-to-consumer genetic tests that make medical claims. Public comment on this agenda is open through March 1. More information.

Medical Policy & Molecular Diagnostics and Genetic Testing Forum

This forum will provide new approaches for payers to manage coding, authorization, and determine clinical validity of molecular diagnostics and genetic tests. The conference will be held April 26 – 27, 2011 in Washington, DC. More.

Websites and Blogs of Interest

Online Resource for Researchers Seeking Funding

The National Health Council has launched HealthResearchFunding.Org, a new national, online database to bring researchers with worthwhile but unfunded projects together with non-governmental sources seeking to support medical breakthroughs. Developed in partnership with the NIH, the new site seeks to help researchers find funding for projects that did not receive NIH support. NHC is made up of more than 100 national health-related organizations with its core membership representing 50 of the nation’s leading patient advocacy groups. Details.

Website for Posting Requests for Collaborators

The Clinical and Translational Science Awards consortium has established a website where researchers can post requests for needed collaborators to build out an idea or a project and look for opportunities to collaborate with others. It is not necessary to be at a CTSA institution to post or respond to posts. New collaborations and quicker progress on all projects is the goal. Projects on the site can be listed in one of two categories: 1) Developing project or; 2) Established project looking for others to join. More information.

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