Make Your Voice Heard

On April 30, 2010 a Notice of Public Hearing was published in the Federal Register. According to the notice, “The Food and Drug Administration (FDA) is announcing a public hearing regarding the Agency’s regulation of drugs, biological products, and devices (e.g., therapies and diagnostics) for the treatment, diagnosis, and/or management of rare diseases.” There will be two days available to provide testimony: June 29 and June 30, 2010.

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

Good news from the FDA (yes, the FDA!)

Transformation is happening – FDA and rare disease!

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

CureDuchenne Hopes FDA Will Accomodate New Class Of Muscular Dystrophy Drugs Upon Proof Of Safety

Seven years ago, we were a happy family with mom, dad and a beautiful 5 year old boy named Hawken.  We had noticed our son was unable to keep up in his first soccer team but we were assured by his pediatrician he was just a “late bloomer.”  After insisting on some testing, we got the news that every parent dreads…our son had a fatal form of progressive muscular dystrophy…Duchenne.

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