Wear That You Care - February 2012 supporting rare disease families!

Rare Disease Day at NIH (RDD@NIH)

On February 29, 2012, the National Institutes of Health (NIH) will celebrate the fifth annual Rare Disease Day with a day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, other NIH Institutes and Centers; the Food and Drug Administration’s Office of Orphan Product Development; the National Organization for Rare Disorders; and the Genetic Alliance.

Rare Disease Day at NIH (RDD@NIH) will be held in the Clinical Center’s Masur Auditorium (Building 10) from 8:30 a.m. to 5:00 p.m. Attendance is free and open to the public.

In addition to the various scheduled talks, we expect to have posters and exhibits from many groups relevant to the rare diseases research community. In association with the Global Genes Project, we again encourage all attendees to wear their favorite pair of jeans.  While attendance is free, we would like to know how many people are planning to attend to prepare accordingly. If you would like to display a poster or exhibit, please include that information on your registration form.  You can contact Dr. David J. Eckstein at eckstein@od.nih.gov for more information. The NIH Office of Rare Diseases Research encourages all attendees to also plan on attending the Food and Drug Administration’s Rare Disease Day activities on March 1, 2012.

Innovation in Medical Diagnostics Saves Lives – a system that isn’t broken and doesn’t need fixing

For over a century, the U.S. Food and Drug Administration (FDA) has done a laudable job of ensuring the safety and efficacy of healthcare for Americans. Recently announced potential policy changes, however, have a good chance of doing just the opposite.

Most of us give little thought to what goes on behind the scenes when our doctors order medical tests. We have blood drawn and wait for results, never hearing about the tremendous amount of innovation that has taken place in the medical diagnostics arena. Precision testing, particularly tests based on DNA, is leading to more personalized care – and fewer wasted health care dollars – for those with cancer, AIDS, and a host of other conditions. For people with rare disorders, sensitive new tests are especially critical – there is no pain like that of watching a child with a complex disease go undiagnosed and untreated.

The FDA is now proposing a new level of regulation over diagnostic tests that will stifle innovation and is likely to make tests for some conditions completely unavailable. In particular, many tests for rare disorders would never come to light because the market for them is not large enough to support commercial development and production.

Many newer diagnostic tests are being developed and validated within sophisticated clinical labs themselves, rather than purchased from a manufacturer. To date, the FDA has openly opted for a policy of “enforcement discretion,” choosing not to apply its presumed authority over these tests, and allowing the labs to select the components and to design and validate their own tests. Accuracy and safety of diagnostic tests is, of course, paramount, and clinical labs are regulated by federal and state agencies, including the Centers for Medicare and Medicaid Services. In addition, professional societies, such as the College of American Pathologists and COLA (formerly Coalition of Office Lab Accreditation), constantly monitor and assess the quality and proficiency of clinical labs and the accuracy of their data. As a result, millions of tests are run each day in the U.S., crucial information is delivered to ordering physicians, and countless lives are saved. There is no evidence that this system does anything but care wonderfully for the patients its serves.

In fact, the evidence indicates that testing quality has steadily improved. Newer DNA tests for HIV, for example, are more accurate and quantitative than ever, allowing physicians to fine-tune drug regimens and improve their patients’ lives. Research in academic and medical center labs has demonstrated the complexity of cancer, showing us that tumors with similar appearance by traditional microscope methods can be very different if we peer further within, to the gene level. Tests for cancer-promoting genes are becoming increasingly available, and are being used to steer patients toward effective treatments targeting the specific genetic errors present in their disease.

The current system saves both lives and dollars. In addition to delivering routine clinical care, hospitals and testing laboratories often conduct basic and clinical research. Labs have been able to purchase one set of equipment to service all three endeavors while carefully monitoring the quality of the data they deliver. Not having to buy equipment for research and then another set for clinical work has saved these institutions from excessive capital costs, costs that would have to be passed on to insurers and patients.

FDA is now proposing to change their approach to these tests, and restrict their use, depriving patients of critical diagnostics just at the time when the dream of personalized medicine is becoming a reality. Moreover, the agency would force manufacturers into the role of policing their customers, which is burdensome and unnecessary.

The FDA’s proposed change towards more enforcement will only harm a well functioning system and the many needy patients who will find it harder or more expensive to obtain the clinical tests their doctors deem necessary. Patients with rare disorders often pursue a correct diagnosis for years – ten to fifteen years of searching is not uncommon. Must we add to their burden?

FDA’s “non-enforcement” era in diagnostics has been a great success, and it is in Americans’ best interest for it to continue.

Rare diseases affect more than 15 million children in the United States.  A disease is considered rare if it affects less than 200,000 people; however the majority of rare diseases are considered ‘ultra rare’ meaning that they affect less than 6,500 patients.  Diseases such as Cystic Fibrosis, Muscular Dystrophy, Huntington’s disease and pediatric cancers are some of the better known rare diseases that strike children and adults.  But there are thousands more that touch only a few hundred lives and are virtually unknown to the broader public.

Because these diseases are rare, support networks are hard to find and information can be difficult to obtain. Even getting a diagnosis can be a challenge because doctors may not know what they’re looking for. And when the diagnosis comes, it is often followed by the frustrating news that no cure exists and treatment options are minimal.

But there’s great hope in the rare-disease community these days because new advances, including our growing understanding of the human genome, are leading to the development of exciting and potentially lifesaving treatments. Currently 460 new medicines are in clinical trials or under review by the Food and Drug Administration (FDA) for rare diseases. It’s essential that we get them to patients as quickly as possible.

Under a law called the Prescription Drug User Fee Act (PDUFA), pharmaceutical companies pay a mandatory fee to help provide needed resources to ensure the FDA has more expert staff to review applications for new drugs in a timely fashion.  PDUFA established a goal that all drug applications be reviewed within 10 months; the goal is six months for priority review medicines, which are those that may offer a major advance in treatment or medicines that offer treatment where none currently exists, as is often the case for medicines to treat rare diseases. To meet that goal, PDUFA provided the FDA with a new revenue stream — in addition to congressional appropriations — by creating a system of user fees paid by pharmaceutical companies who are seeking review of new medicines. This combination of public and private funding has allowed the FDA to hire more than 1,500 additional reviewers and ensure that the process is efficient. While companies don’t pay fees for the review of drugs intended to treat rare diseases, the user fee program supports the review of all new drug applications.

Generally, PDUFA has worked. After the law was passed in 1992, review times for new drugs fell by about 60 percent. Safety continues to be the top priority. In 2007, industry and FDA agreed to dedicate some of the private sector user fee funding to safety activities—to better monitor medications after they are approved for patient use.

PDUFA needs congressional reauthorization every five years, and we’re coming up on another reauthorization next year. It’s a long process, as hearings begin this week in the U.S. House. The FDA has already issued its proposed language to the Office of Management and Budget for regulatory review. As members of the Administration and Congress move forward on reauthorization, I urge them to ensure the law meets its original objective – the efficient and safe review of new drugs.

Recently, the length of time it takes new drugs to get through the review and approval process has been climbing. A key reason for the missed deadlines is the congressional mandates which were introduced as part of the Food and Drug Administration Amendments Act in 2007 (the last reauthorization of PDUFA legislation). While these were well-intentioned, they have caused unnecessary delays for patients desperately waiting for new treatment options.

One such requirement is for an outside Advisory Committee of experts to discuss most drug applications and provide their counsel. The law also imposed more limits on who could serve on the committees. While valuable in theory, in reality the process for scheduling such time-intensive meetings often slows the review process.  In fact, as of last April, one-third of Advisory Committee positions were vacant. When dealing with treatments for rare diseases, it can be difficult to find medical professionals who have enough knowledge of a particular disease and also have never worked with the pharmaceutical companies developing new treatments. Their prior work to bring about cures can make them ineligible to participate on Advisory Committees.

On the whole, PDUFA works well and the FDA, along with pharmaceutical companies, is bringing hope and needed relief to millions of patients and their families, in the form of new treatment options. As PDUFA gets reauthorized, it’s important to learn from past experience. The FDA should have the resources it needs to ensure that safe, effective medicines reach patients as quickly as possible, and that medicines that don’t meet the FDA standards don’t reach the market. The best way to do that is to make the review process consistent and transparent, with clear communication between regulators and drug makers. Recent revisions to PDUFA should be assessed to determine whether they make the process stronger or simply add time.

The 460 potential treatments for rare diseases that are currently in the clinical trial and review process could be vital lifelines for young patients. To turn hope into reality, let’s make sure PDUFA stays true to its mission: a public-private funding model advancing health in America.

Nicole Boice is the founder and CEO of the Children’s Rare Disease Network.

Source:
http://thehill.com/blogs/congress-blog/healthcare/169631-help-children-with-rare-diseases-get-the-new-medicines-they-need

Global Genes Project To Distribute Thousands of Donated Blue Bracelets

DANA POINT, Calif., February 8, 2011 – February 28, 2011, is Rare Disease Day, but at the Global Genes Project, it’s rare disease awareness day every day of the year. Leading up to Rare Disease Day 2011, the Global Genes Project will be  calling attention to the lack of drug treatments available for millions of people suffering from chronic, life-threatening and  fatal rare diseases through its 7,000 Bracelets for Hope™ and Wear That You Care™ awareness campaigns.

The 7000 Bracelets for Hope™ campaign is designed around the color blue and a denim jeans theme, which has become the unifying symbol of hope for all those who have been touched by rare diseases. Since October 2010, numerous companies, jewelry designers, artists, crafters, church groups and other volunteers have been working tirelessly to produce unique blue bracelets to be distributed to children suffering from rare diseases and their parents leading up to Rare Disease Day 2011.

“We are grateful to all of our 7,000 Bracelets for Hope™  participants who have donated materials and bracelets and who are joining the global movement to advance the fight against rare diseases and disorders,” said Nicole Boice, Founder, Global Genes Project. “The blue bracelet designs we have received for children and parents are remarkable and each one represents the uniqueness of one of the 7,000 rare diseases.”

“The Global Genes Project shines a light where one is sorely needed, providing children with rare diseases and their families badly needed connections, support, awareness and hope for the future,” said Amanda Royce-Hale, Royzle Designs. “I am honored to contribute to this worthwhile cause and work to help the entire rare disease community.”

Drug Crisis: 95% of Rare Diseases Have No FDA Approved Treatments

According to statistics from the National Institutes of Health (NIH), there are approximately 7,000 different rare diseases that together affect over 25 million Americans and an estimated 250 million people globally.

It is also estimated that 80% of rare diseases are caused by genetic defects, and according to the Kakkis EveryLife Foundation, 95% of rare diseases do not have any FDA approved drug treatments. Since the Orphan Drug Act was enacted 28 years ago in January 1983, only 352 new drugs have been approved by the FDA for all rare diseases combined despite incentives by the federal government.

“We are honored to have an opportunity to help support the 7,000 Bracelets for Hope™ campaign,” said Whitney Taylor, Happy Mango Beads. “Rare diseases and disorders leave millions of children and families without hope for treatments and by supporting this project we intend to do our part to raise global awareness and show the rare disease community how much we care.”

“There is nothing more amazing to me as an artist than the power of creativity to uplift, enlighten and illuminate,” said Margot Potter, author, designer and The Creative and Education Coordinator for Jewelry Television’s Jewel School. “I’m a big believer in small kindnesses having great impact.  I am honored to support this cause.”

7,000 Bracelets for Hope™ Participants

Some of the participating companies, organizations and individual jewelry designers contributing to the 7,000 Bracelets for Hope™ awareness campaign include: Adorned, Allen Girl Designs, Alyson Garvey Jewelry Designs, Amber Woodward, Amy Giesen, Anne Manninen, BBBDesigns, BeadsKnitsAndBits, Bee’s Baubles, Believe In Abilities, Brea McClain, BuzzyBizzyBeads, Carol Hudgions, Cheers To July, Chevin Terrado Designs, LLC., Crafty Jewelry, demoiselle 16, Delta Xi Chapter of Phi Sigma Sigma sorority at Binghamton University, Designs by Stevie J, EC Jewelry Design, Etsy, Fat Dog Beads, Gabrielle’s Gift Inc., Gamut, Glassbaker Inc, GottaSpoilem Gems, GypsyChique, HandHeadHeart, Happy Mango Beads, Irene Celori, Jamie Barlow, Janet’s Gems, Jewelry by Jennifer Pride, Jewelry by Sosalyn, Jewelry Creations by Lizardpoint, Jewelry Link Gemstones, Kaplow, KAT Creations, KatieDot Designs, Kim Wilson, Kimmykin’s Boutique, KraftD, Kreations by Karlee, Lacey Ryan, Inc., Lana Chayka Designs, Lynn Warner, Made by Susan, Mami’s Gem Studio, Melissa Mansfield, Memory Maker Bracelet, Murphy Originals, LLC., My Leilani Designs, Native Spirit Jewelry, Original Designs for You, Patty Haas, Peace of Mind Handcrafted Jewelry, Peace Unique, Perfect Accents by Lori, Petals N’ Things, PG’s Gemspiration, Pickled Beads Jewelry, The Purple Lady, Rhea’s Renderings, Royzle Designes, Rozeza’s Creations, Sedgeworks, Serenity’s Jewelry and Gems, Spider Baby Danger Kitten, Sylvia May Forrest, Three Fates Design, Timex, Treasure4Ever, Wendy Liu, WhatKnotShop and Wild Shimmer Designs.

“We donated our beads with the utmost love and admiration to the children and families affected by truly devastating rare diseases,” said Justin Bentley, Glassbaker, Inc. “We sincerely hope that our beads and the unique bracelets created from them will bring all those afflicted with rare diseases that extra bit of hope and courage they need to continue fighting.”

“Our efforts to raise awareness through the 7,000 Bracelets for Hope™ are just beginning and we will continue building this awareness program throughout 2011,” said Elizabeth Joshi, a Global Genes Project volunteer whose son suffers from Joubert Syndrome, a rare genetic disorder characterized by a defect to the brain’s cerebellum. “Although rare conditions individually may each affect a relatively small percentage of people, collectively they represent millions of individuals. We are 7,000 different rare diseases but we are all fighting for each other.”

Joining the Rare Disease Movement

The Global Genes Project website provides detailed information related to submitting and receiving 7,000 Bracelets for Hope™ designs. Individuals and companies interested in participating by donating bracelets to the bracelet awareness campaign can sign up on the Global Genes Project website at www.globalgenesproject.org. Families battling rare diseases can also sign-up to become recipients of blue denim inspired bracelets made by companies and volunteers.

About The Global Genes Project

The Global Genes Project (www.globalgenesproject.org), is a leading nonprofit rare disease advocacy organization that educates the public about the prevalence of rare diseases worldwide. The organization is responsible for launching the Denim Jeans Awareness Ribbon™, Wear That You Care™ denim campaign and the 7,000 Bracelets for Hope™ campaign to call attention to the global drug development crisis facing millions of people afflicted with rare diseases. To see the full list of Global Genes Project supporters, visit http://www.globalgenesproject.org/sponsors.php.

Contact:

Jacqueline Tanzella
Spark Public Relations
jacqueline@sparkpr.com
415-321-1889

Nicole Boice
Global Genes Project
949.248.RARE (7273)
949.680.7088 (cell)
nicoleb@rareproject.org

When: Tuesday June 29 & Wednesday June 30, 2010 9am to 5pm ET
Where: 10903 New Hampshire Ave., Bldg 31, Rm 1503, Silver Spring, MD 20993
Oral Presentation: Written/Electronic Requests to Paras M Patel by May 31, 2010–
Phone: 301–796–8660, FAX: 301–847–8621
e-mail: OPDAR @fda.hhs.gov
Note: If you cannot attend the hearing, written/electronic comments will be accepted through August 31, 2010. Transcripts of the hearing will be available within 45 days.

I am interested in hearing what you might share at the Public Hearing. Please let me know via email if you would like me to testify on your behalf – I would like to gather some of your stories, comments, recommendations, etc. and provide a consolidated report to the FDA. Here’s some information directly from the Federal Register regarding the issue topics the FDA is particularly interested in receiving feedback on:

1. Orphan drug marketing applications are reviewed under the same review process and statutory standards regarding demonstration of safety, effectiveness, and product quality as drugs for patients with nonorphan diseases or conditions. FDA is sensitive to the unique needs of patients with rare diseases as it makes approval decisions regarding the overall risk benefit profile of therapies for the particular patient population for which they are being considered. Please comment on whether this practice has adequately addressed the needs of patients with rare diseases.

2. FDA designates a medical device as an HUD designed to treat or diagnose a rare disease—defined in this instance as a disease affecting or manifesting in fewer than 4,000 patients per year. Please comment on whether this practice has adequately addressed the needs of patients with rare diseases. Please also comment and provide your rationale on whether 4,000 patients constitutes an appropriate population size for an HUD determination. If improvements are suggested, please provide specific examples/suggestions for any recommended changes.

3. Current regulations for the approval of an HUD through the HDE pathway require that the application have a ‘‘description of the device and a discussion of the scientific rationale for the use of the device for the rare disease or condition’’ and ‘‘an explanation of why the probable benefit to health from the use of the device outweighs the risk of injury or illness from its use, taking into account the probable risks and benefits of currently available devices or alternative forms of treatment’’ (21 CFR 814.102 and 814.104). Please comment if you believe that these standards remain appropriate for the approval of devices for rare diseases under the HDE mechanism; please also comment whether a more precise definition of probable benefit is needed.

4. Have current processes for rare disease stakeholders to communicate with FDA regarding rare disease article development been useful? How could these processes be improved? Please provide specific examples/suggestions for any recommended changes.

Comments and feedback would be useful by COB Wednesday, May 19, 2010. However, because of the quick turnaround time I welcome your comments by COB Thursday, May 27, 2010.

Thanks in advance for all of your support and effort! ~ Howard

Visit MarbleRoad’s new Facebook Page!

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Tomorrow night, Tuesday, May 18, 2010, the National Organization for Rare Disorders (NORD) will be hosting its annual gala – the Partners in Progress 2010 Gala – in Washington DC. The event will be emceed by Home Improvement and The West Wing actress Patricia Richardson, who’s father died of progressive supranuclear palsy (PSP), a little known but disabling brain disease. At the event NORD will be honoring Dr. Sami Said, a State University of New York (SUNY) professor, with the Partners in Progress Award. They will also be honoring Dr. Roscoe Brady of the National Institutes of Health (NIH), who developed the first effective treatment for Gaucher disease, with the Lifetime Achievement Award. Registration

We have gotten so accustomed to hearing criticisms of the The U.S. Food and Drug Administration which, like most criticism, is sometimes valid, sometimes not). Here are two new developments worth talking about! First, in an admirable show of cooperation, the FDA reached an agreement with the European Medicines Agency to allow sponsors of approved orphan drug and biologic products to submit a single annual report to both agencies. Read more here: http://www.prnewswire.com/news-releases/international-collaboration–fda-and-european-medicines-agency-agree-to-accept-a-single-orphan-drug-designation-annual-report-85607477.html

And the FDA and NIH have announced too important collaborative efforts designed to speed both translational research (which is one step before clinical) and regulatory science – both of which are directly related to the speed with which new therapies reach the clinic and actual patients. Read more here: http://media-newswire.com/release_1113463.html

Jonathan Jacoby
jonathan@rareproject.org

We were told Hawken would be in a wheelchair by 10, paralyzed by 16 and most likely die at the age of 20.  And there was nothing we could do!  We did the normal search, contacting the MDA, connecting with parent organizations, yet we could not find a group who shared our determination to find a cure to save our son’s life.

During our search for therapies, we came across research projects that had the potential to extend the quality and life expectancy of Duchenne boys but the existing DMD or muscular dystrophy organizations were not interested in funding them.  CureDuchenne was born as a vehicle to funnel funding directly into researchers and biotech companies that had proof of concept but needed seed money to move toward human trials.

Fortunately, there were two small biotech companies, PTC Therapeutics (New Jersey) and Prosensa (Leiden, Netherlands) that were able to take contributions from CureDuchenne and other organizations and fund their pre-clinical DMD programs. Over the last 5 years, these cutting edge biotech companies have moved into phase 2 trials with novel drugs that show promise of slowing down the progression and ravages of Duchenne.

Because of this initial funding, both companies received large follow on funding from venture capital firms, larger biotech companies and the NIH.  Within a 5 year period, families of DMD boys have been able to move from searching for any possible research to anticipating next phase trials and even commercialization of drugs that could save our boys.

The entire field of Duchenne research changed when biotech companies got involved.  The reason for CureDuchenne’s success in funding projects that have moved forward to trial is that we demanded a solid business plan from our grantees, and it was the for-profit biotech companies that were able to deliver not only the technology, but the roadmap to availability of therapies for the patients.  Without the biotech’s business models and management practices, these technologies would have wallowed much longer in research labs instead of getting to very sick children.

Most parents who have a child with a terminal illness would gladly change places with their child.  When I hear about the millions spent on aging or obesity or even very real adult diseases, I find myself wishing I could have one of those ailments if it meant my son could be healthy.  Life is not fair but for healthy people, most can make it good.  Children with a disease like Duchenne never get a chance to grow up even enough to fight for their cause…so it’s up to us parents to be that loud voice.

In the case of Duchenne muscular dystrophy, there is hope and there are things that can be done to save these boys.  Right now, it all comes down to money.  Duchenne is a well understood disease, we know what causes it and we basically know how to fix it, we just need the larger amounts of money needed to move into the human trial phase quickly.  And for that, we need the help of biotech companies that have the model to deliver drugs to patients.  The biotech companies, however, need funding partners since size of the Duchenne drug market is very small, in most cases a biotech company can’t build an entire company around its Duchenne drug without partners to reduce the risk.

Duchenne research will be among the first to truly deliver personalized molecular medicine to patients. The defective dystrophin gene that causes Duchenne is by far the largest gene in the human body.  There are 79 exons, or bits of information that need to be in order for the dystrophin protein to be produced.  It’s the dystrophin protein which keeps the integrity of the muscle cells intact, without it the muscle cells, including the heart and diaphragm die and the boys get progressively weaker.

Today, the most promising therapies under investigation for DMD are drugs that target the specific mutation of each patient’s dystrophin gene.  PTC is in trial for a drug that addresses about 10% of DMD mutations and Prosensa and AVI Biopharma (Oregon) are targeting multiple exon targets to treat as many boys as possible.  Other companies and research centers are working on complementary chemistries that could boost the effectiveness of those drugs.  These companies and scientists need help with funding, regulatory hurdles and medical insurance issues.

In the next few months, we will have human trial results from PTC, Prosensa and AVI.  If these therapies prove safe and effective, we must have the option to roll out the drug targets to all boys instead of one drug one at a time.  We need the funding to move aggressively with many targets simultaneously and we need the FDA to accommodate a roll-out of this new class of drugs instead of going through the time consuming, expensive and inefficient process of applying for individual Investigational New Drug Applications (INDs).  The FDA and public need to understand that many boys will unnecessarily die by dragging out the process.

There is need right now for funding for testing and evaluating drugs that will streamline the process, which will save lives.  Prosensa is seeking funding for a biomarker project which would enable researchers to test the effectiveness of potential drugs without taking biopsies, a long, painful process that is frowned upon by patients as well as regulatory agencies.  Myomics is looking for quick and inexpensive testing platforms for approved drugs as well as supplements.

Most DMD boys in the United States take a corticosteroid, Deflazacort.   This drug is NOT available in the US, parents must buy it online.  It is expensive and not covered by insurance.  The supplements we give our boys also are not covered by insurance.  There are many challenges that DMD families face, and the financial strains are one of them.

Every day, two boys die of Duchenne.  Although we don’t have a cure yet, we may be close to life saving or life extending treatments.  Now is the time to have the systems set up to fund the next phases of trials and to provide seed money to new and promising therapies.

Debra Miller
President and Founder
CureDuchenne