Why Vote4Hope? How Kickstarting Cures For Rare Disease Through The Pepsi Refresh Project Can Help Kids

Last week, I thought about trying to raise $250k in the Pepsi Refresh Project for The Addi and Cassi Fund and for Niemann Pick Type C disease research but being part of something larger that can make a difference for millions of ‘rare kids’ is important to me.

That’s why I decided during the entire month of September, I will dedicate my time to raising awareness for all children who suffer from rare diseases and have no treatments or cures in sight.

According to the National Institutes of Health (NIH), there are approximately 7,000 different rare diseases affecting approximately 15 million children in the United States. This statistic does not take into account the number of children affected with rare disease in the Europe Union or around the world.

According to the FDA, over the past 25 years and since the passing of the Orphan Drug Act in 1983, we’ve had approximately 350 new drugs brought to market for all 7000 rare disorders despite the incentives by the federal government.

Think about this for a moment. 7,000 rare conditions. 15 million rare children in the United States. And only 350 new drugs for rare disease in 25 years? These are mind blowing statistics by any measure.

The Children’s Rare Disease Network and The Global Genes Project are inviting the public to ‘Vote for Hope’ at the Pepsi Refresh Project to kickstart treatments and cures for the millions of kids who suffer from various forms of rare diseases.  There is no better time than now to “Refresh Rare Disease.”

The Pepsi Refresh ‘Vote For Hope’ Rare Disease campaign begins September 1-30 and is designed to drive awareness for the unmet medical needs of the global rare disease community and to encourage pharmaceutical and biotech companies to get more involved in creating treatments for rare diseases.

The Global Genes team hopes for a chance at winning $250,000 to continue the Foundation’s efforts to bring awareness to the issues surrounding the lack of treatments for rare disease and intends to build a platform to help drive “cures in the lifetime of a child.”

That’s exactly what I want — treatments now for Addi and Cassi and for other kids suffering from debilitating and life threatening conditions such as Batten, Gaucher, Progeria, Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Williams Syndrome, Canavan disease, Joubert Syndrome, Epidermous Bullosa, Medulloblastoma, Ewing’s Sarcoma, Wilms’ Tumor, Krabbe disease, Pompe disease and Giant Axonal Neuropathy.

And that’s only a list of 17 of the 7000 rare conditions affecting children.

From rare neurodegenerative disorders to rare cancers to rare bone diseases, parents and families just like mine are all fighting for the same thing for our children – treatments and cures to keep them happy, out of pain, and most of all, alive.

Please join me during the month of September and take time out of your day to Vote4Hope at the Pepsi Refresh Project.

Millions of kids like Addi and Cassi are counting on us to show the world and Time Magazine that, “It Is Time We Paid A Lot More Attention To Rare.”

• Join the Facebook Vote4Hope team here

• Get a Vote4Hope Badge here

• Vote Now For Vote4Hope On Pepsi Refresh

 

 

Chronic Fatigue Virus Saga Continues – Murine Leukemia Virus or MLV Found by FDA and NIH

The chronic fatigue virus saga continues. Today, the NIH, FDA and CDC held a teleconference and provided additional evidence of an association between a virus and Chronic Fatigue Syndrome. But instead of focusing directly on XMRV like I thought they would, most of the call was centered on a family of viruses called murine leukemia virus-related virus or MLV.  Apparently, XMRV is one of several viruses of the MLV virus family.

Blood samples from more than 80% of patients with chronic fatigue syndrome were tested and found to have viral gene sequences and genetic code similar to those of murine leukemia virus (or MLV) which causes leukemia in mice.

The government researchers noted considerable genetic diversity among the MLV-like viruses they found in their CFS patients rather than the homogeneity of xenotropic murine leukemia virus-related virus (XMRV) linked in other studies to chronic fatigue syndrome. The researchers reported finding three distinct types of MLV-related virus gag sequences which apparently are more closely related to sequences of polytropic mouse endogenous retroviruses than to XMRV. XMRV is among several different members of the MLV family, researchers said.

The researchers, including Dr. Shyh Ching Lo of the FDA and Dr. Harvey Alter of NIH, we careful to not confirm that an infectious agent like MLV or XMRV causes Chronic Fatigue Syndrome. The good news is they were on the record to say they believe the central argument by the Whittemore Peterson Institute.  They also said that WPI is now finding more genetic diversity in their CFS patients after doing further studies.

The researchers also discussed the need to continue the investigation of XMRV, MLV, and chronic fatigue syndrome. I hope they will take it further. My six year old identical twins are infected with XMRV and we need studies on children that that have genetic conditions like Niemann Pick Type C combined with XMRV infection — do they influence each other?  I believe they do. Many kids like Addi and Cassi are dealing with two severe conditions at the same time — genetic conditions combined with viruses.  Also, I am going to talk to Dr. Caroline Hastings, who not only treats Addi and Cassi, but also kids with leukemia. I am wondering if her patients would test positive for either of these viruses?

NIH press release is here: http://www.prnewswire.com/news-releases/study-presence-of-murine-leukemia-virus-related-gene-sequences-found-in-cfs-patients-101316939.html

Scientists at NIH, FDA & CDC To Hold Briefing On XMRV Retrovirus

Note: I plan to begin posting blogs about the XMRV retrovirus on Addi and Cassi’s website. Why would I start posting about XMRV when Addi and Cassi have Niemann Pick Type C disease, a fatal “childhood Alzheimer’s” like condition? People who are reading my blog for the first time need to know that all people are born with the Niemann Pick Type C gene. This critical gene on Chromosome 18 regulates cholesterol metabolism at the cellular level, and unlike Addi and Cassi who were born with a double genetic mutation on their Niemann Pick cholesterol gene, most people are born with healthy non-mutated NPC genes.

Addi and Cassi have been confirmed to be positive for XMRV, a human gamma retrovirus that finally may be confirmed by the NIH and FDA today. Retroviruses like XMRV and HIV-AIDS insert into your genetic material and stay for life and millions of people worldwide are suspected to be infected with XMRV.

At 3pm Eastern time today (Monday, August 23) the NIH, FDA and CDC will hold a joint telebriefing for the press to discuss an XMRV paper that the Proceedings of the National Academy of Sciences (PLoS) is publishing. If the XMRV virus is finally confirmed after months of controversy, this will be a historic day.

On the call will be:

• Harvey Alter, M.D., Chief, Clinical Studies and Associate Director for Research, Department of Transfusion Medicine, NIH Clinical Center
• Shyh-Ching Lo, M.D., Ph.D., Director, Tissue Safety Laboratory Program, Division of Cellular and Gene Therapies and Division of Human Tissues, Office of Cellular, Tissue and Gene Therapies, Food and Drug Administration Food and Drug Administration
• Celia Witten, M.D., Ph.D., Director, Office of Cellular, Tissue and Gene Therapies, Food and Drug Administration
• Hira Nakhasi, Ph.D., Director, Division of Emerging and Transfusion Transmitted Diseases, Office of Blood Research and Review, Food and Drug Administration
• Steve Monroe, Ph.D., Director, Division of High-Consequence Pathogens and Pathology, Centers for Disease Control and Prevention

Will the public finally be told that XMRV is “real” and the nation’s blood supply is infected? If so, will the public finally wake up to the gravity of the situation with XMRV? Will mass panic break out if NIH confirms that people can catch the XMRV virus from a sneeze or kiss?

The question I keep asking myself is how did Addi and Cassi get XMRV? Since they are only six years old, they did not get it from having sex. Either I gave it to them (they were born with it) or they CONTRACTED it. I am almost certain that they CONTRACTED XMRV at around 3 years old when they first became sick with a mysterious “Mono” like syndrome and I took them to Stanford. Either way, it’s frightening because the twins contracted it from saliva (airborne) or I gave it to my unborn children!!!!!

One leading HIV-AIDS researcher I know, Dr. James Hildreth at Meharry Medical College in Nashville, has been funded by NIAID to look at the connection between the XMRV and cholesterol. Dr. Hildreth previously discovered that in order for HIV-AIDS to survive in the human body, it utilizes cholesterol and the Niemann Pick Type C gene. Does XMRV also utilize cholesterol and the Niemann Pick Type C gene that all people are born with to do it’s dirty work as well? I can’t help but wonder what role cholesterol plays in the XMRV virus, if any.

The question for me now is how do I deal with treating both conditions — a fatal progressive genetic cholesterol disease that is stealing my twins’ minds combined with a nasty retrovirus.

RareArtist.org – Rare Art Created by Rare People to Support Rare Disease Awareness

What a great idea — a new website to showcase Rare Art created by Rare People to support Rare Disease awareness.  The Kakkis Everylife Foundation has launched RareArtist.org for artists of all ages affected by a rare disease.

There are almost 7,000 rare diseases that affect more than 25 million Americans — many of them are children like Addi and Cassi who suffer from Niemann Pick Type C disease which causes childhood dementia and is fatal.

The EveryLife Art Contest was established to empower artists affected by Rare Diseases to express their unique struggle with a rare disease.  An art competition is being held and is open to all artists affected by a Rare Disease ages 5 and older.

Check out RareArtist.org today and upload your art!

Creating Hope Act 2010 Bill Would Extend Priority Review Voucher System To Rare Pediatric Diseases

Great news for the pediatric rare disease community came out late last week — rare disease advocates please get this out on your blogs!

Senators Sam Brownback (R-KS), Sherrod Brown (D-OH), and Al Franken (D-MN) are supporting the bipartisan bill S. 3697, the “Creating Hope Act of 2010.” Nancy Goodman, Executive Director of Kids v Cancer, is the person leading the charge on S. 3697 and a priority review voucher system for pediatric rare diseases.

In 2009, Nancy lost her son Jacob to a rare pediatric cancer called medulloblastoma. She is an inspiration to all in the rare disease community!

The Creating Hope Act of 2010 builds upon the Food and Drug Administration Amendments Act of 2007, often called the “treat and trade” program, which established a priority review voucher program for drugs or biologics targeting neglected tropical diseases. At the time this bill was passed, rare childhood diseases were excluded.

The Creating Hope Act of 2010 will encourage the creation of new drugs for underserved children like Addi and Cassi who suffer from serious and life threatening medical conditions by providing a priority review voucher (PRV) as an incentive to pharmaceutical companies who develop drugs for rare pediatric diseases like Niemann Pick Type C.

This is exactly the type of novel incentive system I have been asking for that could fast track cyclodextrin research. For example, with a PRV system in place, I could get a company like Johnson and Johnson to actually take on Niemann Pick Type C disease research and help me make a cyclodextrin drug for Niemann Pick Type C kids.  In turn, Johnson and Johnson could receive a priority review voucher that gives them priority FDA review of another application that would otherwise be reviewed under FDA’s standard review clock.

This priority review voucher could be used for a blockbuster drug that a company would want want to bring to market and receiving priority review could mean millions of dollars to a Pharma or biotech company.  This is why they would be willing to invest in Niemann Pick Type C research and cyclodextrin and help our small community bring a potentially life saving compound to market for kids like Addi and Cassi.

Since I already have an orphan drug application filed and approved with the FDA, having a priority review voucher system in place potentially makes Niemann Pick Type C an attract investment risk by Pharmas or BioTechs.

Priority reviews vouchers for pediatric rare diseases are a  win-win for everyone!  We need to rally the rare disease community to fight for the passing of S. 3697, Creating Hope Act 2010 bill.

Below are some key provisions of the S. 3697, Creating Hope Act 2010 bill:

• Extension to pediatric rare diseases: This legislation includes rare pediatric disease within the scope of the program. This category encompasses any disease that is “rare” within the meaning of the Orphan Drug Act (affects less than 200,000 people, or the cost of development would exceed revenue) is recognized in the medical community as affecting a pediatric population and is a new drug that has not received FDA approval for an adult indication
• Closing a loophole: This legislation would prevent companies from receiving a voucher for tropical disease products that they already market in other countries. This change will ensure that the program rewards only innovative treatments
• Unlimited transferability of vouchers: A voucher may now be transferred unlimited times provided that the transferee, in each instance of transfer, notifies the FDA of the change in ownership. This change enables drug companies to maximize the value of the voucher in the marketplace
• Optional upfront priority review designation process: Under the current law, sponsors do not know whether their new drug application will qualify for a voucher until the time of FDA approval. The proposed legislation permits sponsors of both tropical disease drugs and rare pediatric disease drugs to seek a designation that the new drug would qualify for a voucher, should it be approved, even before they submit their new drug application.
• Adds Chagas disease to the list of neglected tropical diseases: Chagas disease is responsible for more deaths in Central and South America than every other parasite-borne disease, including malaria. Yet, despite its profound impact, research and development of new treatments is severely underfunded. The addition of Chagas to the list of eligible diseases fulfills the intent of the original authors.
• Reporting and marketing requirements: The Creating Hope Act requires that the sponsor submit a statement of good faith intent to market the eligible drug, as well as a report describing the demand and distribution of the ultimate product.