NORD – December 2010



NORD e-News: December 2010 Edition


Holiday Greetings to All!

On behalf of the NORD staff, Board of Directors, and Medical Advisory Committee, we extend our best wishes to all for happy holidays and a wonderful New Year! NORD is blessed with a strong and supportive circle of members and friends. We look forward to working with all of you to make 2011 the best year ever for the patients and families who rely on us to promote awareness, innovative research, medical advances, and fair and compassionate public policies.


Please Join Us in Supporting World Rare Disease Day

World Rare Disease Day will take place on February 28, 2011. As the U.S. sponsor for this global event, NORD encourages you to visit the U.S. Rare Disease Day website and the global site to learn how you can become involved. The global theme for 2011 is “Rare Diseases and Health Inequalities”. NORD has created a countdown badge that all who support Rare Disease Day are welcome to post on their websites or blogs. Download the badge.  



Are You Ready for the “Write Your Rep” Campaign?

When the new Congress convenes on January 5, NORD will launch a campaign to encourage members of Congress to join the new Rare and Neglected Diseases Caucus. You can help. Check the list of Caucus members on the NORD website. If your representative’s name isn’t there, contact him or her with a request to join the Caucus. We’ll provide a sample request and background information on why the Caucus is important. NORD will also host an event to educate legislative staff about the Caucus. Watch for information on this in January.



Medical Foods Conference Scheduled for February 10

As a Rare Disease Day event, NORD will host a conference in Washington DC on February 10 to help define medical foods for rare diseases and shape a national policy agenda for NORD and its advocacy partners on this issue. Certain inborn errors of metabolism and other rare diseases require special medical foods for treatment. However, these foods can be expensive, and many families experience reimbursement issues. By drawing together all stakeholders, NORD hopes to facilitate a fair and compassionate solution to this problem. Anyone who would like to be on the invitation list may write to


Sanford-Burnham Medical Research Institute to Host Symposium

The Sanford-Burnham Medical Research Institute will host its second annual Rare Disease Symposium on February 25 in conjunction with Rare Disease Day. Keynote speaker will be Stephen Groft, PharmD, Director of the NIH Office of Rare Diseases Research. The event will focus on endoplasmic reticulum and golgi-based rare disorders. Information and online registration. (See poster below from previous Institute event.)


Legislative Action Reinstates Orphan Drug Discounts for Children’s Hospitals

On Dec. 7, the New York Times reported that, in an unintended result of the healthcare reform legislation, children’s hospitals were being notified they no longer qualify for large discounts on orphan drugs. The discounts were implemented 18 years ago for community health centers serving larger numbers of low-income people. Later, the program was broadened to include children’s hospitals. The problem reported in the Times now appears to be fixed. Legislation known as the Medicare and Medicaid Extenders Act of 2010 passed by Congress on Dec. 9 reinstated the orphan drug discounts.


NORD Submits Comments to FDA Regarding PDUFA

Every five years, the Prescription Drug User Fees Act (PDUFA) must be reauthorized. This Act provides funding to FDA that has generally been believed to improve patient safety and the speed with which potential new drugs are reviewed. NORD is meeting regularly with FDA officials and others in preparation for the reauthorization of PDUFA in 2012. Read about this in the Federal Register.  

Read statement NORD has submitted to FDA.  


NORD Awards 2010 Research Grants

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of six research grants in November 2010. Details.  


NIH News

New Center Proposed to Accelerate Drug Development

The National Institutes of Health (NIH) Scientific Management Review Board has voted to establish a National Center for Advancing Translational Sciences. The role of this proposed new center would be to establish a focused, integrated, and systematic approach to link basic science research with therapeutics development and clinical care. The Therapeutics for Rare and Neglected Diseases (TRND) Program and other selected NIH translational research programs would be administered from this new center. More.  

Lasker Clinical Research Scholars Program

The NIH, in conjunction with the Albert and Mary Lasker Foundation, has announced that funding is available to support physician-researchers at the NIH Clinical Center. The Lasker Clinical Research Scholars Program will accept at least five clinical researchers per year for at least the next decade, allowing scientists in the early stages of their careers to focus on patient-oriented research. More.  

NIH RDCRN Doubles in Size

NIH recently reported that its Rare Diseases Clinical Research Network, created in 2003, now has 19 consortia with some 80 investigators at more than 70 institutions. The program and associated data center are currently funded at the level of $117 million over five years. RDCRN was the first specialized infrastructure at NIH to support the study of groups of related diseases rather than individual diseases. RDCRN also is unique in that it emphasizes partnership of scientific researchers with patient organizations. More about RDCRN. More about CPAG, the Coalition of Patient Advocacy Groups associated with RDCRN.


FDA News

FDA Seeks Nominations for Oncologic Drugs Advisory Committee

FDA is requesting nominations for members to serve on the Oncologic Drugs Advisory Committee (ODAC) in the Center for Drug Evaluation and Research (CDER). Submissions must be received by December 31. Requirements, qualifications and how to submit nominations.  

FDA Issues Guidance on Public Comment Procedures at Advisory Committee Meetings

On December 9, FDA issued final guidance for people who wish to comment during the agency’s advisory committee meetings. The guidance provides instructions on how to request a time to speak and how FDA staff should respond to requests to speak at the meetings. Read FDA news release.  

Recent Orphan Drug Designations

Elorac, Inc has received orphan drug designation for naloxone lotion for the topical treatment of pruritis accompanying cutaneous t-cell lymphoma, also known as mycosis fungoides.


News from NORD Member Organizations

Shwachman Diamond Syndrome Foundation (SDSF)

The SDSF has announced that the 6th bi-annual international scientific congress on SDS will be held at the New York Academy of Sciences in New York City June 28-30, 2011. This multidisciplinary forum devoted specifically to Shwachman Diamond syndrome (SDS) will explore the most important recent advances in understanding the clinical features, current management, and treatment of SDS, and the molecular function of SBDS in hematopoiesis, leukemogenesis, and organogenesis. Plenary lectures, poster sessions, interactive panel discussions, and workshops will be conducted. More information.  

The Shwachman-Diamond Syndrome Registry (SDSR) has been established to collect medical information and clinical samples on individuals with SDS with the goal of improving diagnosis and treatment. The SDSR is currently centered at the Fred Hutchinson Cancer Research Center in Seattle, and Cincinnati Children’s Hospital. Clinical data and biologic specimens are currently being accepted. Visit the registry.  

Cornelia de Lange Syndrome Foundation (CdLSF)

The CdLSF has announced that funding is available to support clinical or basic science research of Cornelia de Lange syndrome. Up to $15,000 for one year will be awarded. Guidelines and application will be available after January 1, 2011 by emailing

Ehlers-Danlos National Foundation (EDNF)

The EDNF has announced that the 2011 Learning Conference has been scheduled for July 21-23 in Baltimore, MD. More.  


Patient and Family Resources

National Comprehensive Cancer Network (NCCN) Guidelines for Patients

The NCCN has developed information for patients about state-of-the-art cancer treatments for selected cancers. These resources are based on the NCCN Clinical Practice Guidelines in Oncology that physicians use to guide treatment decisions. Patients can use the guideline to facilitate discussion with their physicians about possible treatment options. The newest booklet on multiple myeloma discusses the wide array of possible drug therapies now available. 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.

Lesch-Nyhan Syndrome

Investigators from Emory University and Johns Hopkins University are recruiting adults with full or partial Lesch-Nyhan syndrome for a research study funded by the National Institute of Child Health and Human Development (NICHHD). The aim of the study is to learn more about the behavior, thinking, biochemistry and brain structure of men with full or partial Lesch-Nyhan syndrome compared to men without it. Compensation will be provided for travel, lodging, and time. For more information, please call Tiffany Ho at (410) 502- 6346 or email Visit the NORD website for more information.

Pulmonary Arterial HypertensionNORD website and

Pulmonary arterial hypertension (PAH) is a rare and debilitating condition that causes high blood pressure in lung blood vessels. Symptoms may include shortness of breath, tiredness, chest pain, and a rapid heartbeat. As the disease progresses, it can lead to heart failure and death. The FREEDOM studies are Phase III clinical research studies investigating the safety and efficacy of an oral prostanoid, UT-15C (treprostinil diethanolamine) sustained-release tablets, in patients with PAH. For more information, visit the

Rare Inherited Disorders and Chromosomal Abnormalities

The National Institute of General Medical Sciences supports a DNA biobank and cell repository at the Coriell Institute for Medical Research in Camden, NJ. This biobank creates cell lines, DNA and other materials from blood or tissue samples and makes these resources available to scientists worldwide to facilitate research on the diagnosis, treatment and prevention of disease. Samples from individuals with rare, inherited genetic diseases, including: metabolic diseases and other diseases detectable by newborn screening, mitochondrial diseases, and chromosomal abnormalities are being collected. Interested donors may contact Tara J. Schmidlen, MS, CGC at 856-757-4822 begin_of_the_skype_highlighting 856-757-4822 end_of_the_skype_highlighting. Visit the NORD website for more information.  


Upcoming Meetings and Webcasts

The Movement Disorder Society (MDS)

The 15th International Congress of Parkinson’s Disease and Movement Disorders will be held in Toronto, Canada June 5-9, 2011. The MDS is an international professional society invested in the research and care of patients with movement disorders, including Parkinson’s disease and Parkinsonism; dystonia; chorea and Huntington disease; ataxia; tremor and essential tremor; myoclonus and startle; tics and Tourette syndrome; restless legs syndrome; stiff person syndrome and gait disorders. More.  

Acromegaly Community

The Acromegaly Community has announced that a meeting of patients and medical experts will be held in Las Vegas, NV May 6-8, 2011. Call 716-873-4924 begin_of_the_skype_highlighting 716-873-4924 end_of_the_skype_highlighting to reserve a space. Early bird discount is available through the end of the year.



Genetic Diseases of Children Conference and Photo Contest

In conjunction with the NIH Office of Rare Diseases Research and Office of Dietary Supplements, the Wadsworth Center of the New York State Department of Health is hosting a national conference May 7 – 9 in New York City on “Genetic Diseases of Children: Advancing Research & Care.” NORD and other patient organizations are assisting with this event. A calendar is also being developed, and images may be submitted for consideration. Details and registration.  

Warner Advocacy Award

Novartis Oncology presented Maryann Wahmann of the Carcinoid Cancer Awareness Network with the 2010 Warner Advocacy Award. This award is given as a lasting tribute to Monica Warner to recognize an advocate of patients with neuroendocrine tumors who displays a passion for education, awareness and leadership in the field. More.  

Lasker Foundation Seeks Nominations for Medical Research Awards

The Albert and Mary Lasker Foundation present awards to recognize and honor individuals who have made important contributions in the understanding, diagnosis, treatment, cure, and prevention of human disease. The Foundation will be accepting nominations for scientists worldwide for the 2011 Lasker Awards through February 1, 2011. More.  


Websites of Interest

National Amyotrophic Lateral Sclerosis (ALS) Registry

The Agency for Toxic Substances and Disease Registry (ATSDR) has announced that the National ALS Registry is now fully implemented. The Registry is a program for the collection, management and analysis of data about people with ALS. Links for patient resources including ALS clinical trials are also posted. Visit the registry.  


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