Topic: Patient Advocate Day in Washington DC

On February 29th, the Office of Rare Diseases Research, (ORDR) a division of the National Institute of Health (NIH) held the annual Rare Disease Day on the NIH Campus. 

RichardLifton, M.D.Ph.D- Sterling a Professor Genetics and Professor of Medicine, Chair, Department of Genetics, Yale University, spoke of Genomics and the place it is taken in present and future gene research.

He mentioned that at present only 20 % of consequential gene mutations have been identified. (Not all are mutations leading to cancer.)

Group studies most likely will offer the most definite answers to genetic sequencing.  He also mentioned that the genes of people of European ancestry differ greatly from those of Asian and African descends. 

For those  with interest in recruitment for a clinical trial, you might want to take a look at
http://clinicalcenter.nih.gov/recruit/R … atch.html.  This federally funded organization  has joined with NIH Clinical Center for a national online clinical research recruitment registry.  The NIH offers health clinical and translational science awards to academic institutions and ResearchMatch registers volunteers (protects privacy) and contact volunteers when possible match to a clinical trial becomes available. This is of no cost to patients. 

Mercy Medical Airlift  http://mercymedical.org/ offers  airline tickets for patients in financial need who need to reach their medical care destinations.  They also coordinate flights in private aircraft owned and operated by volunteer pilots through Angel Flight and Airlift Hope. 
For personal information please contact:
meddy@mai.nih.gov.  Mariata Eddy.

The NDRI Rare Disease Alliance has formed the Rare Disease Biospecimen Alliance to facilitate advances in rare disease
http://www.ndriresource.org/NDRI_Initia … isease/30/
One in ten Americans has a rare disease, defined as a disease that afflicts fewer than 200,000 people per year in the United States. Because there are close to 7,000 rare diseases, these “orphan” ailments have a significant collective impact. Research aimed at finding the causes and ultimately treatments for these disorders could benefit millions of people. This is especially so given that research on rare diseases often provides insight into more common diseases.

A a donor registry for organ and tissue research has been established at no cost to patients unless surgery is performed solely to retrieve tissue or organ. NDRI  also accepts donations after the passing of a person.

The following day, March 1st, I participated in the first ever FDA Rare Disease Patient Advocacy Day on the  FDA campus.

Stephen Groft (NIH) Director of Rare Disease Research spoke of the 18 to 25 million people affected by a rare disease in the U.S.  (6% to 8% of population.) All of these diseases vary in disease aggressiveness and behavior. 

The FDA’s Office of Orphan Product Development (OOPD) in collaboration with NIH Office of Rare Diseases Research (ORDR) states that small clinical trials (in comparison to most other clinical trials) may be appropriate and even necessary for rare diseases.

Research and drug development in the US has slowed significantly.  What is interesting is that in 2011 only thirteen new drugs have been approved and out of those thirteen drugs, eleven were approved for rare diseases.  As to date only 330 medications have been approved for 250 of the 7000 genetic and acquired diseases.

The FDA is looking to expand the base of patient advocates in order to support and advise in drug development and approval of new and existing drugs. 

In order to conduct clinical trials global partnership is necessary. 
The US is working closely with The International Rare Disease Research Consortium
Technology/Research/International-Rare-Disease-Research-Consortium-IRDiRC-Statement.html and is conducting clinical trials with Europe, Japan, Latin America, Canada, South Korea, Australia, China, Russia, New Zealand and India.

The TREAT ACT (Transforming the Regulatory Environment to Accelerate Access to Treatments.) is a bill established to create a consistent process and a clear, safe and effective pathway for the FDA. It will encourage the development and accelerate the approval of innovative treatments for patients with rare and life threatening disease.

Drug shortages are beginning to have devastating affects on the patient community.  Congress is working on passing legislation to l broaden reporting of these drug shortages to the FDA.  In fact, the President has signed an executive order and is asking the patient community to become involved and report these shortages.

The Keynote address was presented by Dr. Stephen Spielberg, Deputy Commissioner for Medical Products and Tobacco.
He emphasized the importance of disease specific foundations and brought to our attention the cystic fibrosis foundation which spearheaded the development of a new drug for those patients carrying a specific gene.  (This is for all but 15% of the 30 000 cystic fibrosis patients in the US.)  The new drug extends life expectancy to about  50 years.

The foundation’s efforts resulted in the organization and support of basic science and the development of a clinical network with numerous investigators throughout the US.  Dr. Spielberg encouraged the collaboration between patients, investigative networks, NIH, academicians, sponsors and the FDA in order to positively impact the patient community with rare diseases.

Numerous patient advocates represented a variety of rare disease however; I believe that I was one of very few advocates representing a rare cancer.  And, I was heard.

THIS INFORMATION IS NOT INTENDED NOR IMPLIED TO BE A SUBSTITUTE FOR PROFESSIONAL MEDICAL ADVICE. YOU SHOULD ALWAYS SEEK THE ADVICE OF YOUR PHYSICIAN OR OTHER QUALIFIED HEALTH CARE PROVIDER

Re: Patient Advocate Day in Washington DC

Marion thank you so very much, and I am thankful we have you as our voice and that you were heard. You are our little tornado and I can say 'little' as we are the same height! So, now, when are you going to take a little vacation? As long as I have been on this Board I have never seen you take a break! Thank-you and love you!

Teddy ~In our hearts forever~ATTITUDE is EVERYTHING
Any suggestion I offer is intended as friendly advice based solely on my own experience. Please consult your doctor for professional guidance.

Re: Patient Advocate Day in Washington DC

Hi, Marion,
the most important is that" YOU WERE HEARD" by them;the more the voice to even A cancer;the better chance in the future that they will find a CURE for those who are lucky enough to have the cure. Keep on pushing hard,you will never know how God's arrangement is . I am an example of his arrangement and who knows when my time will be up,but in the mean time,like you, I will push hard until the lack of energy catch up on me.
God bless.

Please know that my personal opinion is not intended nor implied to be a substitute for professional medical advice. If  provided, information are for educational purposes.Consult doctor is a MUST for changing of treatment plans.

Re: Patient Advocate Day in Washington DC

Thanks so much for all of this Marion! Sounds like you had a very busy time! Thanks so much once again.

Hugs,

Gavin

Any advice or comments I give are based on personal experiences and knowledge and are my opinions only, they are not to be substituted for professional medical advice. Please seek professional advice from a qualified doctor or medical professional.

Re: Patient Advocate Day in Washington DC

The added link will allow for an overview of my attendance at FDA.
http://www.fda.gov/Drugs/ResourcesForYo … 295042.htm

THIS INFORMATION IS NOT INTENDED NOR IMPLIED TO BE A SUBSTITUTE FOR PROFESSIONAL MEDICAL ADVICE. YOU SHOULD ALWAYS SEEK THE ADVICE OF YOUR PHYSICIAN OR OTHER QUALIFIED HEALTH CARE PROVIDER