Being a NORD member brings our EDNF membership updates and information which inform us.  We will post relevant items here.

August 2009

FDA Expands Access to Investigational Drugs 

The U.S. 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. 

The 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

FDA also announced the launch of a new website where patients and their health care professionals can learn about options for investigational drugs.   

Since 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.  

FDA website about investigational drugs 

Revised FDA 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 This e-mail address is being protected from spam bots, you need JavaScript enabled to view it .  If you haven't yet had a chance to read NORD's position letter, click here to access it.

Media Opportunity: New TV Series on Rare Diseases Being Planned 

July 2009 

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.

Recommendations Issued for Molecular Genetic Disease Testing

The Centers 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 included.    http://www.cdc.gov/MMWR/ preview/mmwrhtml/rr5806a1.htm

Mandatory Registry of Genetic Tests Proposed

The 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 unduly burdensome.

·            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).

http://www.dnapolicy.org/news. release.php?action=detail& pressrelease_id=132

http://content.karger.com/ ProdukteDB/produkte.asp? Aktion=ShowAbstract&ArtikelNr= 226593&Ausgabe=0&ProduktNr= 224224

Patient Recruitment

Volunteers Needed for NIH Adrenal Insufficiency Study 

Individuals 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/ ct2/show/NCT00156767?term=05- CH-0013&rank=1       

“Living with a Rare Disease” Study 

An 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 This e-mail address is being protected from spam bots, you need JavaScript enabled to view it