Being a NORD member brings our EDNF membership updates and information which inform us. We will post relevant items here.
FDA Expands Access to Investigational Drugs
Food and Drug Administration (FDA) yesterday announced that it was changing its
rules regarding patient access to investigational drugs and biologics.
Since 1987, FDA has had rules in place that allow patients to have access to
investigational drugs under certain circumstances. Now, FDA has published
two revisions to expand patient access to investigational products and to
clarify the process for patients and their physicians.
specific revisions, as described in the Federal Register, include:
· Changes to make investigational
drugs more widely available to patients by clarifying procedures and standards
· Changes to clarify the specific
circumstances and the types of costs for which a manufacturer can charge
patients for an investigational drug used as part of a clinical trial or
outside the scope of a clinical trial
announced the launch of a new website where patients and their health care
professionals can learn about options for investigational drugs.
only a few hundred of the nearly 7,000 rare diseases have a specific
FDA-approved treatment, these rule
changes are especially important to people with rare diseases.
about investigational drugs
rules for expanded access to investigation drugs
Please Share Your Feelings About Health Care Reform With Us
NORD recently sent a letter with its position on health care
reform to all members of the U.S.
Senate and House of Representatives. We also distributed it to the press,
and it received wide coverage. We are interested in hearing from our members on this important topic. If you have
views you would like to share regarding the overall position NORD has outlined,
or any specific portion of it, please let us know by writing to Diane Dorman,
Vice President of Public Policy, at
. If you haven't yet had a
chance to read NORD's position letter, click here to
Media Opportunity: New TV
Series on Rare Diseases Being Planned NORD has
been contacted by a producer at Discovery Health who is working on a new
television series about rare diseases that will focus specifically on what it’s
like to live with a rare disease. One or two stories will be presented in
some depth in each episode.
For this series, the intention is to focus on diseases that are in some way apparent and to feature patients or families
whose stories would be inspiring to others. To submit story ideas, please
send a brief (one or a few paragraphs) description of your story idea to Jean
Rare Disease Testing
NOTE: Ehlers-Danlos syndrome is called a rare disease by many but its numbers belie that adjective. EDNF works to take this word out of the vocabulary but EDS is still listed under that heading.
Issued for Molecular Genetic Disease Testing
for Disease Control, the Centers for Medicare and Medicaid Services and the
Clinical Laboratory Improvement
Advisory Committee have issued recommendations
for good laboratory practices to ensure the quality of molecular testing for
heritable disorders. The recommendations
cover the preanalytic, analytic and postanalytic testing phases, as well as
personnel requirements. Some specific guidelines for rare disorders are
Mandatory Registry of Genetic Tests Proposed
Genetics and Public Policy Center has issued a proposal for a mandatory
registry of genetic tests to inform the public and health care providers about
tests for over 1,700 conditions. The authors suggest that the following
features are needed to make the registry effective:
· It should be mandatory with
penalties imposed for noncompliance.
· Both clinical laboratories and
test distributors should be required to register.
· The registry initially should be
limited to genetic tests that are health-related. Providers of tests for
ultra-rare disorders would be exempt from some
reporting requirements that could be
· The registry would contain
information adequate to assess how reliable a test is (analytic validity), how
the results relate to current and future disease risk or health status
(clinical validity), and how useful the results are in informing patient
diagnosis or treatment or in disease
prediction, management, or
prevention (clinical utility).
Volunteers Needed for NIH Adrenal Insufficiency Study
18 years and older with a current diagnosis of adrenal insufficiency
and/or those who have received a cortisol or cortisone injection within
the last 30 days may be eligible to participate in a study looking at methods to improve detection of adrenal
insufficiency. Compensation is provided for one three hour visit for
testing and bloodwork at the NIH Clinical Center
in Bethesda, MD. It is possible that
transportation may be provided. Please call 1-800-411-1222 for additional
information or visit: http://www.clinicaltrials.gov/
“Living with a Rare Disease” Study
interview study of patients with rare diseases is being conducted by Susan
Vitale, Assistant Professor of Nursing at Molloy College,
in order to better understand the unique and common issues related to a rare
diseases diagnosis. Individuals 18 years and older and/or
interested family members are
eligible to participate by providing a description of their experience either
by email, in person or by telephone. For additional information contact
Dr. Vitale at