Saturday, 28 January 2012

Rare Disease Day 2012?

A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday.

A disease is rare if fewer than 200,000 people in the United States have it. There are close to 7,000 rare diseases and about 25 million people in the U.S. have one. Many rare diseases are caused by changes in genes and are called genetic diseases.

Policy News

PDUFA Goes to Energy and Commerce Committee
FDA announced on Jan. 13 that it had completed and submitted to Congress its recommendations for PDUFA V (the Prescription Drug User Fee Act) and new user fee programs for human generic drugs and biosimilar biological products.  Read FDA's press release.  PDUFA V, which includes important new provisions related to rare diseases, now goes to the House Energy and Commerce Committee.  NORD's VP of Public Policy, Diane Dorman, has been invited to present testimony to the committeee on its opening day of hearings.
NORD and Other Advocates Submit Amicus Brief
NORD and 13 other national disability and health organizations have submitted a Supreme Court amicus brief stating that the Affordable Care Act's minimum coverage provision "falls squarely within Congress' authority to regulate interstate commerce" and therefore is constitutional.  The patient advocates believe the minimum coverage provision is necessary for insurance reforms, such as eliminating discrimination based on pre-existing conditions, to be successful. 

Record Number of Orphan Drugs Approved in 2011

The pharmaceutical industry won marketing approval for a record number of new drugs for rare diseases last year.  Thirty-seven percent (11 of the 30 new drugs approved by FDA) were for rare medical conditions.  "We believe this reflects growing recognition that innovative research and business, combined with responsive regulatory science, is beginning to have an impact on bringing these desperately needed therapies to market," said Peter L. Saltonstall, NORD president and CEO.  Read story in Washington Post.

NIH News

Moving Forward With NCATS
Following Congressional approval of a fiscal 2012 spending bill, NIH has established the new National Center for Advancing Translational Sciences (NCATS), which will serve as the nation's hub for translating scientific discoveries into new drugs, diagnostics, and devices.

FDA News

Warning Issued About Stem Cell Claims
FDA cautions consumers to make sure that any stem cell treatment they are considering has been approved by FDA or is being studied under a clinical investigation that has been submitted to, and allowed to proceed by, FDA.
Recent Drug Approvals
FDA has expanded the label for Berinert for the treatment of hereditary angioedema to include acute laryngeal attacks as well as abdominal attacks.  Berinert is manufactured by CSL Behring.
Recent Orphan Designations
Pinnacle Biologics, Inc. has received orphan drug designation for Photofrin (porfimer sodium) photodynamic therapy as adjuvant therapy to surgery for the treatment of malignant pleural mesothelioma, a rare form of cancer that affects the lining of the lungs.
Halo Therapeutics has received orphan drug designation for HT-100 to treat Duchenne muscular dystrophy.
AiCuris has received orphan drug designation for a human cytomegalovirus (HCMV) inhibitor AIC246 (Letermovir) for the prevention of HCMV-related viremia and disease in at-risk patients.
Amsterdam Molecular Therapeutics has received orphan drug designation for its gene therapy program for treatment of hemophilia B.
CanBas Co., Ltd. has received orphan drug designation for its chemotherapy drug CBP501 to treat mesothelioma in combination with cisplatin and pemetrexed.
Ikaria has received orphan drug designation for inhaled nitric oxide with the INOpulse DS drug-delivery system as a combination therapy to treat pulmonary arterial hypertension.

News From NORD Board and Medical Advisory Committee

Three New Members Elected to NORD Board
Three new members have been elected to the NORD Board of Directors.  They are Brett Kopelan, executive director of Dystrophic Epidermolysis Bullosa Research Association of America (DebRA); Kari Luther Rosbeck, president and CEO of Tuberous Sclerosis Alliance; and Marshall L. Summar MD, of Children's National Medical Center.  View full list of Board members.
NORD Medical Advisor Appointed to CDC EGAPP
Doris T. Zallen, PhD, a member of NORD's Medical Advisory Committee, has been appointed to the CDC Evaluation of Genomic Applications in Practice and Prevention working group.  The EGAPP develops recommendations and evidence-based reviews on genetic tests and other applications of genomic technology that are in transition from research to clinical and public health practice.  Dr. Zallen is a professor in the Department of Science and Technology in Society at Virginia Tech.

News From NORD Member Organizations

Alport Syndrome Foundation (ASF)
The ASF has announced the availability of funding for basic science and clinical research on the natural history, biochemical basis, and treatment of Alport syndrome.  A total of $100,000 for up to two years is anticipated.  Proposals are due January 31.
Association for Frontotemporal Degeneration (AFTD)
The AFTD has announced that its Fifth Annual Conference will be held in Atlanta on April 27.  More information will be available in the near future at
Prader-Willi Syndrome Association USA (PWSA USA)
PWS USA has announced the availability of grant assistance for projects aimed at discovering and developing treatments, cures, and technologies beneficial to those with Prader-Willi syndrome.  Proposals are due March 6.
Tuberous Sclerosis Alliance (TS Alliance)
A new white paper from the TS Alliance, entitled "Unlocking a Cure for Tuberous Sclerosis Complex: An Assessment of Scientific Progress and Research Needs", concludes that rare disease research is poised to provide "new therapies that modify progression of the disease, and possibly even prevent some of the most devastating manifestations". 

Funding Opportunities

DIA Patient Advocate Fellowship Program
The Drug Information Association is offering scholarships to 501(c)3 organizations in the U.S. or registered charities in Canada that serve constituents with major chronic diseases, rare diseases, and/or diseases with limited or no treatment to attend the DIA Annual Meeting.  Applications are due Feb. 1.

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.
The Worldwide Sarcoidosis Research Study (WISE) is designed to gain more information about the characteristics and clinical course of sarcoidosis in order to help physicians and researchers better understand how to treat the disease.  Researchers at the University of Iowa Institute for Clinical and Translational Science will be gathering information from a large number of sarcoidosis patients localed all around the world using a web-based survey.

Rare Disease Testing

Genetic Cause of Rare Immune Disease Identified
A mutation in the PLCG2 gene that codes for an enzyme involved in the activation of immune cells has been found to be associated with a form of cold urticaria.  It is possible that some people previously diagnosed with common variable immunodeficiency disease or with granulomatous diseases could have a PLCG2 gene mutation.


Many Clinical Research Results are Unpublished
Researchers report that fewer than half of a sample of trials that received NIH funding were published within 30 months of the trials' completion. 

International News

Passing of the Torch at Orphanet
After 15 years, Dr. Segolene Ayme is stepping down as director of the widely respected European portal on rare diseases and orphan products, Orphanet.  Her successor will be Dr. Odile Kremp.  
Hepatic Glycogen Storage Diseases
An international symposium dedicated to glycogen storage diseases type I and type III will be held in Lyon, France, April 4-6.
Child Neurology Congress
The 12th International Child Neurology Congress and 11th Asian and Oceanian Congress of Child Neurology will take place as a joint meeting May 27-June 1 in Brisbane, Australia.

Upcoming Meetings and Webcasts

Sanford-Burnham Medical Research Institute Rare Disease Day Symposium
Eric Green, MD, PhD, director of the National Human Genome Research Institute, will be the keynote speaker at the third annual Sanford-Burnham Rare Disease Day Symposium on Feb. 24.
New York Academy of Sciences: Complex Drugs in Light of Established Regulatory Guidance
This conference on March 9 will focus on recent regulatory developments for follow-on versions of complex drugs, including experimental design, interchangeability and immunogenicity issues from the perspective of government, industry, physicians and consumers.
Rare Syndromic Body Fat Disorders: What Can They Teach Us?
NIH is sponsoring this workshop, which will focus on several disorders, including Prader-Willi syndrome, ciliopathies, and lipodystrophies on March 1-2. 
Rare Disease Leaders Forum
Timothy R. Cote, MD, MPH, NORD's Chief Medical Officer, and Pat Furlong, a NORD Board member, will speak at the upcoming Rare Disease Leaders' Forum in San Francisco March 12-14.


PCORI Request for Information
The Patient-Centered Outcomes Research Institute Methodology Committee is seeking input from experts in the scientific community on a Draft Translation Table Framework to determine research methods most likely to address specific comparative clinical effectiveness research questions.  The deadline is Feb. 17. 
Taubman Prize for Excellence in Translational Medical Science
A newly established $100,000 annual award will recognize work in the field of translational research.  The deadline for all nominations is April 1. 


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