NORD Foundation – May 2011

May 2011 ~  eNews

NORD to Co-sponsor 1st Annual Rare Diseases/Orphan Products Summit

NORD will co-sponsor the 1st Annual Rare Diseases/Orphan Products Summit on Oct 11-13, under the auspices of the Drug Information Association (DIA). Collaborating organizations include EURORDIS (the European Rare Disease Organization), FDA, NIH, and Duke Clinical Research Institute.

In addition to plenary sessions with senior government, industry, and patient speakers, there will be three tracks at the meeting: Track A for researchers, building on a three-day rare-disease investigator training course first offered in October 2010 Track B for patients and patient organizations Track C for industry and the investment community Watch for more information soon.

Have You Seen NORD’s New Website?

To better serve its diverse audiences, NORD has completely redesigned its website.

The new site includes features to help patients and families network, connect with patient organizations, and join together in advocacy, education, and outreach. It also includes special features for NORD’s other audiences, including medical professionals, government and industry.

See the new site.

A Time to Say Thank You

NORD honored the co-chairs of the new Congressional Caucus, two outstanding patient organizations, and other rare disease innovators at its annual Partners in Progress Celebration on May 17th.   More.

Rep. Leonard Lance with NORD board members Frank Sasinowski and Judit Ungar

Emcee Patricia Richardson, APFED President Wendy Book, Frank Sasinowski

Patricia Richardson, Genzyme Boston Marathon runners, Frank Sasinowski

Policy News

An Update on Creating Hope Act (S606)

On March 17, 2011, Senator Bob Casey (D-PA) introduced a bipartisan bill to encourage the development of new treatments for rare and neglected diseases that is proportionately affect children. This bill, the Creating Hope Act of 2011, has broad support among the medical community and patient advocates, and is supported by NORD. It would strengthen FDA’s program of priority review vouchers to incentivize development of treatments. The bill currently has four cosponsors.


A Summary of Medical Foods Equity Act (S311/HR1311)

Sponsored  by Senator John Kerry (D-MA) and Representative Tammy Baldwin (D-WI), this Act would amend sections of existing legislation to provide coverage of medically necessary foods and pharmacological doses of vitamins and amino acids required for the treatment of certain inborn errors of metabolism and some other rare diseases. NORD supports this legislation.

Read a section-by-section summary.

NIH News

Screens Approved Drugs to Identify New Therapies for Rare Diseases

Scientists at the NIH Chemical Genomics Center (NCGC) have begun screening drugs currently on the market to determine if they could be effective in treating rare diseases. Repurposing of drugs may help to accelerate identification of off-label therapies that could benefit rare disease patients. The NCG Pharmaceutical Collection (NPC) browser is a publicly available compilation of drugs that are clinically approved in the US, Canada, Europe and Japan that can be searched by drug name, chemical structure, approval status, and indication. Investigational drugs and compounds that have been tested in humans are also being added.


FDA News

FDA Develops Strategic Priorities Document

Commissioner Margaret Hamburg, MD, has overseen the development of a document outlining strategic priorities for the agency for the next five years. The document, which is posted on FDA’s website, emphasizes the need for science-based decision-making, enhanced collaboration, and greater transparency.

It identifies five “cross-cutting areas” as strategic priorities for the agency at this time:

Advancing regulatory science and innovation
Strengthening the safety and integrity of the global supply chain
Strengthening compliance and enforcement activities to support public health
Addressing the unmet public health needs of special populations and Advancing medical countermeasures and emergency preparedness


Recent Drug Approvals
Afinitor (everolimus), marketed by Novartis, has been approved for the treatment of progressive neuroendocrine tumors of the pancreas (PNET). This medication was previously approved to treat patients with a type of kidney cancer (advanced renal cell carcinoma) and a rare type of brain cancer (subependymal giant cell astrocytoma).

Read the press release.

RecentOrphan Drug Designations

CytRx Corporation has received orphan drug designation for INNO-206, its tumor-targeting drug candidate for the treatment of pancreatic cancer. Mithridion has received orphan drug designation for MCD-386CR for the treatment of progressive supranuclear palsy.

News from NORD Member Organizations

Association for Frontotemporal Dementias (AFTD)
The AFTD is sponsoring a Caregiver Education Day and Annual Meeting on June 10 in Boston. The meeting will feature author Elinor Lipman, a keynote by Dr. Brad Dickerson, in-depth breakout sessions, and a premier of AFTD’s film, It Is What It Is. Networking with AFTD’s board and staff will take place at a reception immediately following.

More information and registration.

Children’s Cardiomyopathy Foundation (CCF)
The CCF has announced the availability of one-year research grants for studies focused on pediatric cardiomyopathy. The purpose of CCF’s Annual Research Grant Program is to advance knowledge of the basic mechanism of the disease and to develop more accurate diagnostic methods and improved therapies for children affected with cardiomyopathy. Please visit CCF’s website (click on Research/Grants & Awards) for guidelines and to view past grant awards. The 2011 deadline for application submission is Friday, September 2, 2011 with final award decisions to be made by January 2012.

Foundation for PSP/CBD and Related Brain Diseases (CurePSP) CurePSP’s 2011 East Coast Family Conference will be held on June 4 at Robert Wood Johnson University Hospital in New Brunswick, NJ. The conference will feature physicians, researchers, and other healthcare professionals who will address various issues related to progressive supranuclear palsy, corticobasal degeneration, multiple system atrophy and other brain diseases. CurePSP’s family conferences are free to attend, but space is limited so early registration is important.

More information and registration.

Patient and Family Resources

Family Advocacy and Supports Training (FAST)
FAST provides family support leadership training to families of children with disabilities. Four new curricula have been developed to address topics relating to employment, sexuality and youth development, advocating for your family, and strategies for systems change. Parent Training and Information Centers and other national dissemination networks will assist in providing information to families of children with disabilities and the professionals who work with them in every state. The US Administration on Developmental Disabilities funds this project.

Learn more.

Shire ACES Scholarship Program
This program recognizes academic achievement in the lysosomal storage disease (LSD) community. High-school graduates or GED credential recipients who have been diagnosed with an LSD are eligible to apply. A $5000 scholarship will be awarded for the 2011-2012 school year. The application deadline is June 15.

More information.

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.

Chronic Sarcoidosis
If you are experiencing symptoms despite your current therapy, you may be interested in learning more about a clinical research study that is being conducted to evaluate two investigational drugs for chronic sarcoidosis. You may be eligible to participate if you are 18 to 85 years of age, have been told by your doctor that you have chronic sarcoidosis with lung and/or skin involvement, and are experiencing symptoms despite your current therapy. Study volunteers will be provided research related medical care and medication at no cost.

More information.

Rare Disease Testing

Gene for Kuf’s Disease Identified Researchers have found that mutations in the CLN6 gene are associated with Kuf’s type A disease, an adult-onset neurodegenerative disease in the group of disorders called neuronal ceroid lipofuscinoses. Development of a blood test for this condition will now be possible, allowing for more accurate diagnosis and genetic counseling for affected families. More.

Gene Associated with Adams-Oliver Syndrome
Researchers have discovered that mutations in the ARHGAP31 gene cause Adams-Oliver syndrome (AOS), an extremely rare disorder that involve abnormalities in the heart, limbs and blood vessels. This gene is responsible for the production of two proteins involved in cell division, growth and movement. This is first gene found to be associated with AOS.


Guidelines for Genetic Testing for Inherited Cardiac Conditions
The Heart Rhythm Society and the European Heart Rhythm Association have developed guidelines for health professionals about the use of genetic testing for heart diseases that can predispose individuals to sudden death. The recommendations focus on the benefits and limitations of genetic testing for diagnostic, prognostic and therapeutic decisions for 13 inherited cardiac conditions including: long QT syndrome; catecholaminergic polymorphic ventricular tachycardia; Brugada syndrome; progressive cardiac conduction disease; short QT syndrome; atrial fibrillation; hypertrophic cardiomyopathy; arrhythmogenic cardiomyopathy/arrhythmogenic right ventricular cardiomyopathy; dilated cardiomyopathy; left ventricular noncompaction; and restrictive cardiomyopathy.



Hydroxyurea Appears Beneficial for Young Children with Sickle Cell Disease (SCD)
The Pediatric Hydroxyurea Phase III Clinical Trial, known as Baby HUG, has provided evidence that hydroxyurea is safe for children aged 8-19 months with SCD. This randomized study found that children in the treatment group had fewer pain episodes, fewer episodes of a pneumonia-like infection (acute chest syndrome), and had fewer hospitalizations. Hydroxyurea raises levels of fetal hemoglobin, reducing the occurrence of sickle-shaped red blood cells that lead to pain and fatigue. This medication has long been used to treat older children and adults with SCD.

Read the press release.

Websites and Blogs of Interest

Pre-Existing Condition Insurance Plan
The Pre-Existing Condition Insurance Plan (PCIP) makes health insurance available to people who have had a problem getting insurance due to a pre-existing condition. The PCIP was launched in July 2010 with $5 billion in funding from the Affordable Care Act with the goal of providing an insurance option to people who may be barred from coverage or who have to pay huge surcharges because of a pre-existing condition. The program will be available until 2014, when the new insurance exchanges go into effect and insurers are prohibited from denying coverage to adults with pre-existing conditions.

Visit the site.
This resource provides a visual education center about dementia for caregivers. The website offers free documentary-style videos, created by a team of award-winning film producers, showing how people cope with challenges in real life scenarios.

Visit the site.
ForeverSibs is a non-profit organization created to support siblings of children who have a rare disorder or autism. This membership based organization provides resources, support, and gift packages to siblings who have a brother or sister with special needs. Membership fees help defray the cost of these items and also support the ForeverSibs Vocational Program. This highly structured, supervised program trains teens and young adults with a rare disorder or autism to participate in a variety of vocational tasks associated with operating the organization. Visit the site.

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