NORD – Newsletter @ April 2011



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2011 eNews

New Consortium Promotes Global Approach
to Rare Diseases

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

Supreme Court Considers Limits on
Prescription Data

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

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

NORD to Honor Rare Disease Pioneers at
May 17 Celebration

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

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

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.
the rules in the Federal Register

FDA News

Drug Approvals

manufactured by AstraZeneca, has been approved for the treatment of medullary
thyroid cancer. More.
(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
(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
(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.
the press release
Device Approvals

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
Orphan Drug Designations

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


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
Partnership for Eosinophilic Disorders (APFED)

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 first to receive your discount access code before
Research Network (CRN)

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
Niemann-Pick Disease Foundation (NNPDF)

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
Foundation (SWF)

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

Pulmonary Fibrosis (PF) Genetic Counseling and Support Program

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

considering participating in a clinical trial should discuss the matter with his
or her physician. NORD does not endorse or recommend any particular

Axonal Neuropathy (GAN)

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]
Cycle Disorders (UCD)

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
Combined Immunodeficiency, X-linked (SCID-X1)

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.


Processing Defect Underlies Rare Type of Dwarfism

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

Focuses on Rare Disease Challenges in Australia

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

Shortages in the Treatment of Rare and Orphan Diseases: Challenges, Compromises,
and Choices

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.
Opportunities for the Heritable Disorders of Connective Tissue

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.


for Medicare and Medicaid Innovation Seeks Ideas

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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Disorders, Inc.

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