NORD September 2010 – The Courtney Project Supports




September 2010 eNews

House Passes Improving Access to Clinical Trials Act

In a victory for rare disease patients and families, the U.S. House of Representatives on Sept. 23 passed the Improving Access to Clinical Trials Act (I-ACT). The legislation, which had been passed a few weeks earlier by the Senate, now goes to the White House where President Obama is expected to sign it.

“This legislation will support the development of new therapies by removing a barrier that might keep patients from participating in important research studies,” said NORD President and CEO Peter L. Saltonstall.

The legislation changes the eligibility requirements for Social Security Supplemental Income (SSI) and Medicaid so that compensation of up to $2,000 for participating in clinical trials won’t be considered income in SSI and Medicaid determinations. NORD and several of its Member Organizations had joined the Cystic Fibrosis Foundation and other patient advocacy groups in supporting the legislation. More.

Institute of Medicine to Release Report on Rare Disease Research

Over the past two years, a committee of the Institute of Medicine (IOM) has been studying existing strategies to promote rare disease research and the development of treatments for rare diseases. Now, it is anticipated that the IOM report will be released soon. The study was requested by the NIH Office of Rare Diseases Research and the FDA Office of Orphan Products Development. More.

Policy News

Uncertainty Continues Regarding Future of Human Embryonic Stem Cell Research

On August 31, NORD participated in a White House briefing in which NIH Director Francis Collins said the Justice Department had filed an appeal to lift an injunction halting human embryonic stem cell research. Because of the injunction, all such research had been stopped with no new applications being considered and continuation funding for existing studies frozen, Dr. Collins said. A US appeals court has since suspended the ban so that grants, contracts and applications involving the use of human embryonic stem cells can continue temporarily. NORD will continue to monitor developments in this controversy. Read Dr. Collins’ September 16, 2010, testimony before the Senate Subcommittee on Labor – HHS – Education Appropriations on this topic.

Access to Federally Funded Research

The Federal Research Public Access Act (FRPAA) is currently before the House and Senate. This bill would require public availability of published research results from eleven federal agencies. More information.

FDA News

FDA to Host Public Workshop on Pediatric Cell and Gene Therapy Clinical Trials

The Food and Drug Administration (FDA) will hold a free public workshop entitled Cell and Gene Therapy Clinical Trials in Pediatric Populations on November 2, 2010, in Bethesda, MD. The purpose of the workshop is to gather information regarding best practices for these trials including evaluating therapeutic agents prior to trials, obtaining informed consent and minimizing risks. The role of institutional review boards will also be discussed as well as challenges and considerations in the review of these trials. Information and Registration.

DIA/FDA Orphan Drug Designation Workshop Planned for November 4-5

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.

FDA to Announce Public Hearing on Biosimilars Soon

According to an advance notice posted in the Federal Register, FDA will host a two-day public hearing Nov. 2 – 3 to obtain input on issues and challenges associated with implementation of the Biologics Price Competition and Innovation Act of 2009 (BPCI Act). It is believed that FDA will be soliciting input on a broad range of topics, including biosimilarity, interchangeability, patient safety, exclusivity, and user fees, among others. More.

Recent Orphan Drug Designations

LFB Biotechnologies has received orphan drug designation for a recombinant anti-CD20 monoclonal antibody for the treatment of chronic lymphocytic leukemia.

to-BBB has received orphan drug designation for their brain cancer product, 2B3-101.

BioMarin Pharmaceuticals, Inc. has received orphan drug designation for its Pompe disease product that is currently in development.

Stromedix, Inc. has received orphan drug designation for STX-1000 to treat idiopathic pulmonary fibrosis.

Ziopharm Oncology, Inc. has received orphan drug designation for Zinapar (darinaparsin) to treat peripheral T-cell lymphoma.

Amsterdam Molecular Therapeutics (AMT) has received orphan drug designation for AMT-080, a gene therapy for Duchenne muscular dystrophy (DMD).

News from NORD Member Organizations

Tourette Syndrome Association (TSA)

The TSA has announced that funding is available for research grants up to $75,000 and Post-Doctoral Fellowships up to $40,000. Letters of Intent are due by October 1, 2010, and full proposals are due by November 23, 2010. Guidelines and application.

Foundation Fighting Blindness

FFB has several open funding opportunities. Three-year grants in the amount of $100,000 per year are available for the study of retinitis pigmentosa and dry AMD. The deadline for letters of intent is October 29, 2010. Applications will be due February 2, 2011. Information

Aplastic Anemia & MDS International Foundation

Meetings for MDS and aplastic anemia patients in the New York City area will be held on October 16, 2010, at the Renaissance Newark Airport Hotel in Elizabeth, NJ. More about the MDS meeting.

More about the aplastic anemia meeting.

TNA-The Facial Pain Association

TNA has announces that the New York City Regional Conference will be held October 23, 2010. The conference is designed for patients, caregivers and medical professionals and will provide an opportunity to meet with some of the leading pain experts in the world. More information and registration.

Cystinosis Research Network (CRN)

MaryBeth Krummenacker from the CRN gave a presentation on patient registries and how cystinosis will play a roll in registries at the International Pediatric Nephrology Association meeting. More information.

Hereditary Neuropathy Foundation (HNF)

The HNF has received a grant from the Centers for Disease Control and Prevention (CDC) in the amount of $781,003 for development of the National Charcot-Marie-Tooth (CMT) Resource Center. The purpose of the Center is to promote collaborative relationships between individuals who have CMT and their health care providers through education, training, and dissemination of information to promote accurate diagnosis, optimal treatment, and well being for individuals who have CMT. More.

Reminding Physicians to Watch for Zebras

Over the next several weeks, NORD will be distributing literature from its Member Organizations at the following major medical conferences to encourage timely diagnosis and raise awareness of rare diseases among physicians and other medical professionals: American Academy of Family Physicians, Denver, Sept. 30-Oct. 2; American Academy of Pediatrics, San Francisco, Oct. 2-5; American Society of Human Genetics, Washington DC, Nov. 3-5; American Public Health Association, Denver, Nov. 6-10.


Funding Opportunities

Request for Applications Posted for FDA Orphan Product Development Grants

A funding opportunity announcement has been posted for FDA Orphan Product Development Grants. These grants support the clinical development of products for use in rare diseases or conditions for which no current therapy exists or when the proposed product would be superior to the existing therapy.

The grants are available to any foreign or domestic, public or private, for-profit or non-profit entity, including state and local units of government. The grants are administered through the Office of Orphan Product Development at FDA, and questions may be directed to Katherine Needleman in that office ( or 301 796-8660 begin_of_the_skype_highlighting              301 796-8660      end_of_the_skype_highlighting). Read the Request for Applications.


Mutations in Common Gene Found to be Associated with Malformations of Cortical Development (MCD)

MCD are severe abnormalities of the outermost layer of the brain and include different forms such as microcephaly, schizencephaly, pachygyria and polymicrogyria that are identified based on anatomical features. Researchers have found that mutations in the WDR62 gene are associated with this diverse group of disorders. It is hoped that this knowledge will lead to a better understanding of these disease processes in order to develop treatments. More.


New Clinical Practice Guidelines for Congenital Adrenal Hyperplasia (CAH)

The Endocrine Society has released a new clinical practice guideline on the diagnosis and treatment of CAH. The new guideline recommends newborn screening for CAH and follow-up confirmatory testing. Newborn screening for CAH is currently performed in all 50 states. Other recommendations from the guideline discuss prenatal treatment; diagnosis; hormone therapy; genital repair; quality of life; transition to adulthood and pregnancy. More.

New Guidelines for Diagnosis and Treatment of Infantile Spasms (IS)

The Infantile Spasms Working Group (ISWG) has published new guidelines for the diagnosis and treatment of IS. The ISWG is a group of US neurologists that are working toward the goal of improving patient outcomes by educating pediatricians. To establish a diagnosis and determine the cause of IS, they recommend a complete history and physical, EEG and MRI. Metabolic testing may be necessary in approximately 30% of patients. Adrenocorticotropic hormone or vigabatrin are recommended for first line treatment, as well as prompt assessment and modification of treatment to avoid adverse events. More.

Upcoming Meetings

Genetic Diseases of Children

The New York State Department of Health has announced that a national conference will be held in New York City on March 7-9, 2011, entitled Genetic Diseases in Children: Advancing Research & Care. NORD President and CEO Peter L. Saltonstall is on the organizing committee for this important conference that will focus on the following themes: reaching an early diagnosis; sharing family experiences; optimizing care and coordination of services; meeting children’s needs; and accelerating research. The conference will bring together researchers, clinicians, families, government officials, and industry leaders for the purpose of advancing research to improve health outcomes for children with genetic diseases. More information and registration.


Upcoming Webinars for the North American Fabry Community

The third in a series of educational webinars for the North American Fabry Community will take place from 7 to 8 p.m. ET on September 28, 2010. Speakers will be Kenneth Getz, MBA, Center for Study of Drug Development, Tufts University; Neil Weinreb, MD, University Research Foundation for Lysosomal Storage Diseases; and Jerry Walter, President, National Fabry Disease Foundation. Jane Keane of NORD will moderate. The webinars are a collaboration of the Fabry Support & Information Group, National Fabry Disease Foundation, Canadian Fabry Association, Canadian Organization for Rare Disorders, NORD and Genetic Alliance. More information and registration.

Transportation Security Administration (TSA) Develops Disability Communication Card

The TSA has recognized that some individuals need a discreet way to communicate with Transportation Security Officers (TSO) that they have a disability, medical condition or medical device that might affect their screening. In response, the TSA is offering a disability communication card that can be downloaded, printed and handed to the TSO. The card cannot be used to exempt an individual from screening, but allows a private means to inform the TSO and reduce delays in airport security. Access the card.

SSA Seeks Input on Proposed Changes in Criteria for Mental Disorders

The Social Security Administration has published a Notice of Proposed Rulemaking (NPRM) for revised medical criteria for mental disorders. Comments on this NPRM are being sought and are due by November 17. More.

Patent and Trademark Office Seeks Input on Incentivizing Humanitarian Technologies

The U.S. Patent and Trademark Office is considering strategies for incentivizing the development and distribution of technologies that address humanitarian needs. One proposal being considered is a fast-track reexamination voucher pilot program to allow patent owners to more readily and less expensively reaffirm the validity of their patents. The deadline for providing written comments is Nov. 19, 2010. Read the Federal Register notice.

Websites of Interest Health Care Reform Information in Spanish

A new federal government website managed by the U.S. Department of Health & Human Services provides information about implementation of the Affordable Care Act in Spanish. is the partner site of It includes a database of health coverage options including public programs (Medicare and the new Pre-Existing Condition Insurance plans) and over 1,000 private insurance plans. Consumers can compare plans in terms of their life situation and location. Links to quality rankings for health care providers and preventive services are also provided. Visit the site.

Six Things Everyone Should Know About Genetics

The American Society of Human Genetics has developed an educational segment about basic genetics principles appropriate for the general public. Visit the site.

Charity Navigator gave NORD its highest 4-star rating 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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  1. Hi there, all is going sound here and ofcourse every one is sharing information, that’s in fact good, keep up writing.

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