November 2010 eNews
What Will You Do for Rare Disease Day 2011?
As the national sponsor for World Rare Disease Day in the U.S., NORD has launched a redesigned Rare Disease Day US website for the 2011 campaign. We hope you’ll visit it often over the next few months to learn about activities and events taking place on or before Rare Disease Day, which is observed on the last day of February each year. Some activities posted on the US site also will appear on the global Rare Disease Day website so that others around the world may read about what we are doing in the U.S.
Non-Profits File Amicus Brief in Florida Case
On November 17, NORD and 12 other non-profit organizations, including the American Association of People with Disabilities and the March of Dimes, filed an amicus brief in the case of Florida vs. the U.S. Department of Health and Human Services. This case has to do with the requirement in the healthcare reform legislation that all Americans purchase some level of health insurance. In a few states, that requirement has been challenged. The position of NORD and the other non-profits is that, if purchasing health insurance is optional, important insurance reforms such as ending discrimination against those with pre-existing conditions may not be financially feasible.
Ask Your Representative to Join Congressional Caucus
With its advocacy partners, NORD has helped establish a Rare and Neglected Diseases Congressional Caucus. When the 112th Congress convenes on January 3, we will begin actively promoting membership in the Caucus. Please help us launch this potentially very important forum by asking your member of the House of Representatives to join the Caucus if he or she has not already done so.
European Commission and NIH Announce Partnership
The European Commission and the National Institutes of Health (NIH) have announced plans to enhance their collaboration in rare disease research, following a recent meeting in Reykjavik, Iceland. NORD President and CEO Peter L. Saltonstall, and Genetic Alliance President and CEO Sharon Terry, participated in the meeting as representatives of the patient community. Watch for future news about this collaboration to accelerate medical breakthroughs for people affected by rare diseases.
SSA Holds 6th Hearing on Compassionate Allowances
The Social Security Administration (SSA) held a Compassionate Allowance Outreach Hearing on November 9, 2010 in Baltimore. The focus of the all-day hearing was cardiovascular disease and multiple organ transplants.
This was the sixth outreach hearing held by SSA Commissioner Michael J. Astrue since the start of the Compassionate Allowance program in 2007. Previous hearings focused on rare diseases, cancers, brain injury and stroke, Alzheimer’s disease and related dementias, and schizophrenia. Compassionate allowances allow the SSA to expedite the review of applications for disability assistance from severely disabled individuals.
SSA has told NORD that it will hold additional hearings focusing on other medical conditions in 2011.
See original list of 50 recognized conditions.
More information and testimony transcripts from the Nov 9 hearing.
NORD’s Fall Newsletter is Now Available
To request a copy of the Fall 2010 News From NORD, write to [email protected]. The newsletter also may be viewed and downloaded on NORD’s website.
Policy News
Proposed Changes in Medicare Rules Recognize Benefit of Family History
One of the many health-care changes enacted in March as part of the Patient Protection and Affordable Care Act is that Medicare beneficiaries will be eligible for an annual wellness visit that includes an assessment of their health risks and creation of a personalized prevention plan. This new benefit begins January 1, 2011. The Centers for Medicare and Medicaid Services (CMS) will define the elements of the wellness visit and how much Medicare will pay for it. CMS has proposed including certain elements in the beneficiary’s first visit including establishing a medical history and family history.
More.
Equal Employment Opportunity Commission (EEOC) Issues Final Rules on Employment Provisions of GINA
Title II of the Genetic Information Nondiscrimination Act of 2008 (GINA) prohibits the use of genetic information in employment; restricts employers from requesting, requiring, or purchasing genetic information; and strictly limits the disclosure of genetic information. The final rules and regulations implementing Title II went into effect on November 9, 2010.
Insurance Reforms Have Strong Support, Policy Expert Tells NORD Members
While health care reform remains a volatile issue, certain key features such as the elimination of lifetime insurance caps and pre-existing conditions clauses have broad support and are not likely to go away, health policy analyst Michael McCaughan said in a teleconference last week with leaders of NORD Member Organizations. “In my view, this law has already been a tremendous success for the rare disease community, even if it were repealed tomorrow,” said McCaughan, an editor with The RPM Report. He said the law and the debate that preceded its enactment sent a strong message that rare diseases are important and that insurance reforms were needed.
NIH News
TRND is Now Accepting Applications for Collaborative Projects
The National Institutes of Health (NIH) has announced the opening of its first solicitation for collaborative projects through the new NIH Therapeutics for Rare and Neglected Diseases (TRND) program. Applications may be submitted online at the ProposalCentral website. The application deadline for the first cycle of this solicitation is December 6, 2010.
TRND will, in collaboration with successful applicant partners, develop clinical candidates for rare and neglected diseases. Collaborators can be academic, biotechnology, pharmaceutical, or foundation researchers, domestic or foreign. Additional information is available on the TRND website.
Also, questions may be submitted via the contact page on the TRND site.
FDA News
Recent Orphan Drug Designations
Discovery Laboratories, Inc has received orphan drug designation for KL4 surfactant for the treatment of cystic fibrosis.
Clinical Data, Inc has received orphan drug designation for PRX-8066 to treat pulmonary arterial hypertension.
Sangart, Inc. has received orphan drug designation for MP4CO to treat painful crises in sickle cell disease.
Recent Drug Approvals
Afinitor, manufactured by Novartis Oncology, has been approved by the FDA to treat tuberous sclerosis complex (TSC). This medication is indicated for the treatment of subependymal giant cell astrocytomas (SEGAs) in individuals with TSC. This type of tumor develops in approximately 15-20 percent of individuals with TSC, and typically becomes symptomatic in children and adolescents, but rarely in adults.
More.
FDA Seeks Consumer Representatives to Serve on Advisory Committees
The FDA is developing a list of consumer representatives to serve on advisory boards for several centers within the FDA. To serve in this capacity, individuals must be able to analyze scientific data, understand research design, discuss benefits and risks and evaluate the safety and efficacy of products under review. Representatives must also be affiliated with and/or actively participate in consumer- or community-based organizations. For further information contact Doreen L. Brandes, Outreach Coordinator, FDA at 301- 796-8858 or [email protected]
News from NORD Member Organizations
International Rett Syndrome Foundation (IRSF)
The IRSF finished first in the September voting and won a $250,000 grant from the Pepsi Refresh Challenge Project. The contest is a highly-publicized and competitive online grant program to benefit non-profit organizations. To win the competition, IRSF launched an intensive grassroots effort, mobilizing thousands of volunteers who voted diligently every day for four months. The Pepsi Challenge funds will be put to immediate use, in part to launch the “Selected Molecular Agents for Rett Therapeutics” (SMART) Initiative – a new Rett syndrome-specific drug development program.
More.
American Autoimmune Related Diseases Association (AARDA)
The AARDA recently partnered with the United Nations Non-Governmental Organization (NGO) Health Committee to co-host “The Global State of Autoimmunity Today.” Autoimmune diseases have become a growing international health issue and this unique gathering of world leaders, dignitaries and international NGO advocates in health was an excellent opportunity to spotlight the treatment, research, and global issues surrounding autoimmune diseases. AARDA is actively working with other groups including those in Pakistan, Ghana, Kenya, and Italy to form an International Autoimmune Disease Network (IADN) to further increase international attention to these diseases.
More.
Coalition for Pulmonary Fibrosis (CPF)
The CPF has announced that Beth Israel Deaconess Medical Center (BIDMC), located in central Boston, will join the Idiopathic Pulmonary Fibrosis Clinical Research Network (IPFnet). The IPFnet is conducting randomized clinical trials to evaluate new and existing medications for the treatment of idiopathic pulmonary fibrosis. Sponsored by the National Heart Lung and Blood Institute (NHLBI), IPFnet is made up of healthcare institutions from around the United States. Patients in the Boston area are encouraged to contact the Center directly to inquire about applying for the trial. Contact information for the BIDMC IPFnet is 617-667-4708 or [email protected].
Patient and Family Resources
Hydrocephalus Resource Library
The Hydrocephalus Association has announced the launch of the online Hydrocephalus Resource Library. The library contains research findings and expert advice to help answer questions about all aspects of living with hydrocephalus.
National Center for Medical Home Implementation
The National Center for Medical Home Implementation is a cooperative agreement between the Maternal and Child Health Bureau (MCHB) of the U.S. Department of Health and Human Services and the American Academy of Pediatrics. The mission of the National Center is to work in cooperation with federal agencies, particularly the MCHB, and other partners and stakeholders to ensure that all children and youth, including children with special needs, have access to a medical home. In a family-centered medical home the pediatric care team works in partnership with a child and a child’s family to assure that all of the medical and non-medical needs of the patient are met.
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.
Castleman’s Disease
Castleman’s disease (CD) is a rare, lymphoproliferative disorder that can manifest in a localized or multicentric form. Localized CD involves enlargement of one lymph node, while MCD affects many nodes as well as other organs causing infections, weight loss, fever, fatigue, nerve damage, night sweats and life-threatening lymphomas. An ongoing clinical research study is enrolling patients with MCD worldwide to evaluate the safety and effectiveness of different doses and schedules of a drug called anti-IL-6 antibody, also known as CNTO 328.
Stargardt Disease
Advanced Cell Technology (ACT) has received authorization from the FDA to begin the first-ever clinical trial of embryonic stem cell treatment for a retinal degenerative disease. The Phase I/II clinical trial will evaluate the treatment in people with Stargardt disease, a juvenile form of macular degeneration that causes progressive, devastating vision loss.
More.
Rare Disease Testing
Potential New Blood Test for Niemann-Pick Type C (NPC)
NPC is a devastating childhood disorder associated with the gradual loss of motor and mental function, seizures, and early death. NPC is a lysosomal storage disorder in which cholesterol accumulates and oxidizes in lysosomes and damages the cells. Researchers have found that NPC patients have higher levels of two oxidized forms of cholesterol than do healthy children or adults, people with high cholesterol, or individuals with other lysosomal storage disorders. Testing for the oxidized forms of cholesterol may be an effective way to diagnosis NPC earlier and improve quality of life. Carriers of the genes for NPC1 or NPC2 may have moderately elevated levels of oxidized cholesterol and could be at increased risk for heart disease, diabetes and other illnesses.
More.
Research
Detailed Map of Human Genetic Variation Published
The 1000 Genomes Project is an international consortium designed to produce a public resource for the study of genetic differences in populations across the globe. This resource is expected to help identify genetic factors related to rare and common diseases. Results from the project’s pilot phase showed that each person has 50-100 genetic changes that have previously been associated with a genetic disease, 60 new gene mutations not inherited from a parent and 250-300 genetic changes that could prevent a gene from functioning normally.
More.
Gene Therapy for Wiskott-Aldrich Syndrome
Wiskott–Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder characterized by recurrent infections, eczema, and low platelet count (thrombocytopenia). Stem cell gene therapy was performed on two boys in Germany with WAS and both showed marked improvement in clinical symptoms. The benefits of gene therapy have continued three years after the therapy without adverse effects.
More.
Upcoming Meetings and Webcasts
First Annual International Standards for Cytogenomic Arrays (ISCA) Consortium Conference
The ISCA Consortium is dedicated to improving cytogenomic microarray testing through data sharing and collaboration, developing clinical decision-making tools to guide patient care, and connecting families with research opportunities and resources. The first annual conference will be held January 31-February 1, 2011 in Atlanta, GA and is intended for clinical laboratory personnel, clinicians, genetic counselors, and others interested in these efforts.
More information and registration.
Informed Consent and Counseling for Whole-Genome Sequencing (WGS)
This webinar will provide a practical framework for medical professionals about implementation of WGS into the clinic. Children’s Hospital of Wisconsin and the Medical College of Wisconsin have developed and implemented a multi-institution, multi-specialty committee and care team to provide WGS as a clinical test for their pediatric patients. David P. Dimmock, MD and Regan Veith, MS, CGC will discuss the consent process that was implemented and the ethical principles driving this approach on December 2, 2010 at 2 PM EST.
More information and registration.
Miscellaneous
Dr. Emil Kakkis Honored as 2010 “Rock Star of Science”
Emil Kakkis, MD, PhD, is one of 17 medical researchers who have been selected “Rock Stars of Science” for 2010 through an initiative reaching out to young people by partnering outstanding scientists with celebrity musicians. Dr. Kakkis is the founder of the Kakkis EveryLife Foundation and a well-known researcher in the rare disease space.
Effective Health Care Program Seeks Public Comment
The Agency for Healthcare Research and Quality (AHRQ) Effective Health Care (EHC) Program has announced that key questions for the following comparative effectiveness review are now available and open for comment on the EHC Program website until December 6, 2010.
* Comparative Effectiveness of Treatments of Phenylketonuria.
Visit the site and comment.
View all EHC Program products that are currently available for comment.
Rare Disease Online Patient Communities
EURORDIS and NORD are moving forward in developing online communities for individuals with rare disorders. The pilot CAPS community and plans for adding future ones were presented at the Fourth Annual Health2.0 Conference in October in San Francisco. At the Health2.0 Europe conference in April, this project was voted one of the best new health care technology start-ups.
Understanding Adults Who Have a Sibling with Special Needs
Three high school students are working with Dr. Ann Kaiser from Vanderbilt University and with support from Don Meyer, the co-founder and president of the National Sibling Support Project , the Sibling Leadership Network and many others from the International Sibling Conference to learn what it is like to be an adult sibling of a person with special needs. This team of students conducted a previous study focused on children who have a sibling with special needs and results were published online in Parenting Special Needs magazine .
They are seeking adult siblings to complete an online survey.
Thanksgiving is National Family History Day
Each year since 2004, the Surgeon General has declared Thanksgiving to be National Family History Day to encourage discussion about health problems that seem to run in the family. A family health history can help to identify families and individuals at increased risk for disease. My Family Health Portrait is a web-based tool that helps individuals to record family history information in a chart and family tree. Any computer with an internet connection and an up-to-date browser can be used to download the software for organizing the information.
Access My Family Health Portrait.
Websites of Interest
Database of Images in Biomedical Literature
Images is a new resource for finding images and figures from medical and life science journals. The National Center for Biotechnology Information at the National Institutes of Health has developed this database to serve many users including clinicians, researchers, students, educators and patients who are seeking photos, diagrams, charts, graphs and other visuals. Users can search using keywords and other parameters such as author and publication date.
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NORD – November 2010 Newletter: World Rare Disease Day 2011 in the U.S.
November 25, 2010 by
