Since the Orphan Drug Act was passed in 1983, the number of rare disorder treatments that are available has been steadily increasing every year. In addition to increasing awareness of the rare disease community, this high level of activity has led to pharmaceutical discoveries and advancements in the treatment of other more common diseases.

A Broad Impact on Health Care
There are numerous examples that illustrate the influence rare disease research has on health care. Alpha-1 antitrypsin deficiency (AATD) is a rare lung disorder that affects less than 100,000 people in the U.S. However, as scientists learned more about AATD, it was discovered that the alpha-1 antitrypsin protein could potentially be used to treat Type 1 diabetes, a disease that affects tens of millions of people worldwide. The FDA has since granted regulatory clearance for the protein to be evaluated in clinical trials.

In another case, scientists made a breakthrough in the way we understand the process of aging while researching a rare genetic disease called progeria. This condition, which causes young children to age at seven times the normal rate, is reshaping the way doctors understand the aging and wearing down of cells. The insights gained from this research could prove to be valuable in treating age-related illnesses such as cancer or heart disease.

Dr. Timothy Coté, former director of the FDA’s Office of Orphan Products Development, speaking at the 2010 Rare Disease Summit emphasized this concept:

“Most of our medical science comes from people with rare diseases. We learn what aging is through Progeria. We learn that the DNA can repair itself through xeroderma pigmentosa. We learn what normal hemoglobin that we all have is through people with hemoglobinopathies… These people with rare disorders form the very fundamental basis of our materia medica. They’re what we studied in school. They’re what we understand in treating all disease that we ever reach. So somehow we need to communicate that – that these are not just odd things that happened to some people, but this collection of rare disorders really are the essence of what medicine is for all people.”

It is not surprising that rare disease research has an impact on medical progress in general. By learning more about the genetic and biologic causes of these disorders, physicians have the opportunity to explore other arenas of medicine with new tools and new perspectives.

What Does the Future Hold?
Since 1983, more than 350 rare disorder treatments have been approved for patient use, and this high level of productivity continues to rise. Today the number of products in development that are categorized as “orphan drugs” is 460, a figure that has more than doubled since 2000. Additionally, the International Rare Disease Research Consortium held a meeting in early 2011 to discuss research avenues and opportunities for collaboration. They set a goal to develop treatments for at least 200 of the more than 7,000 rare diseases by the year 2020.

More and more people are starting to recognize the importance of rare disorder research. If we continue to make progress in developing treatments for these disorders, the next decade could prove to be hugely beneficial to people affected by rare diseases and to the entire medical industry.

What do you think?

In 2011, CBI is proud to present its 6^th Annual Rare Disease Leadership Summit at a critical time for this community.  Advocates of the 5,800 rare diseases that have no commercialized treatments are petitioning Congress to update the Orphan Drug Act of 1983.  A guidance from the FDA is expected regarding clinical trial design with an added flexibility due to the small number of participants.  What will this look like and will it aid in the use of surrogate endpoints?  Additionally, a rising number of orphan drug designations, while a positive for patients, is putting pressure on payers and may alter the reimbursement landscape.  What will the result be on drug utilization?  On the needs for patient assistant programs?

These are just a few of the reasons why this summit is a must attend in 2011!

Read about the buzz from our 2010 event!

For more information, or to submit abstracts, please contact Amy Bensle at (339) 298-2103 or email her at amy.bensle@cbinet.com.

The Pharmaceutical Research and Manufacturers of America (PhRMA) represents the country’s leading pharmaceutical research and biotechnology companies, which are devoted to inventing medicines that allow patients to live longer, healthier, and more productive lives.  PhRMA companies are leading the way in the search for new cures.  And it appears that research efforts have started to shift, focusing on rare, orphan and neglected diseases.    “Once you’ve talked to a deseperate parent whose child is suffering or dying, you wil be forever convincd of the need for medical innovation, including the terrible diseases that afflict even just a few”, said PhRMA President and CEO John J. Castellani.   “Researchers at biopharmaceutical companies are working every day to bring hope to patients with limited options.”

The 460 medicines for rare diseases in the report are all in laterstages of the pipeline, meaning in clinical trials or under reveiw by the FDA.  A major area of research involves rare cancers.  Solid tumors of the liver and thyroid, cancer of the blood and melanoma, or skin cancer, account for more than one-third of all rare disease drugs under development.

Other major areas of research include:  genetic disorders, neurologic disorders, and infectious diseases.  For more detailed information and to download a copy of this report please visit www.phrma.org.

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

DANA POINT, Calif. – January 26, 2011 – Monday, February 28, 2011, is the 4th annual Rare Disease Day — a day when people worldwide will show their support for the millions of people suffering from rare diseases and disorders. According to statistics from the National Institutes of Health (NIH), there are approximately 7000 different rare diseases that together affect over 25 million Americans and about 250 million people globally. It is estimated that 80% of rare diseases are caused by gene 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.

The Global Genes Project (www.globalgenesproject.org), a leading nonprofit rare disease advocacy organization, today announced the “Wear That You Care™” Denim Campaign in support of Rare Disease Day 2011 and to call attention to the global drug development crisis facing millions of people afflicted with rare diseases. The Wear That You Care™ Denim campaign is simple — all across the world people can participate in supporting the rare disease movement on Rare Disease Day 2011 by wearing a Denim Jeans Ribbon™ and their favorite pair of jeans — also known as vaqueros , cowboybuksers, niuzaiku, farmernadrág and dungarees in other countries.

“Spurring development of new treatments for thousands of rare diseases is one of the most pressing health care challenges we face in the world today,” said Nicole Boice, Founder, Global Genes Project. “The goal of our effort is to create synergy among all constituents committed to finding treatments for the millions of people living with rare diseases and to educate the public on how genetics can influence their health or lead to chronic or life threatening diseases.”
Since the launch of the Global Genes Project and Hope – It’s In Our Genes™ awareness campaign in February 2010, more than 150 leading corporations, organizations, hospitals and nonprofits have signed up to support rare disease awareness and educational efforts. Organizations that recently joined the effort include: Angelman Syndrome Foundation, Batten Disease Support and Research Association (BDSRA), Biotechnology Industry Organization (BIO), Children’s Hospital Research Center Oakland, Healthline, Illumina, Medpedia, MLD Foundation, National Society of Genetic Counselors, Pfizer, Progeria Research Foundation and RemedyMD. The Global Genes Project has also added new supporters from China, Serbia and Turkey.
“Many rare disease foundations are starting to understand our core message — we’re all in the same boat when it comes to drug development for our individual rare diseases and there are few options in sight for millions of people,” added Boice. “It’s time to band together to make our voices heard and to push for major legislative initiatives that provide novel incentives to researchers and industry so they will invest the time and capital needed to develop new treatments.”

A number of “Wear That You Care” denim awareness events are currently being organized around the world and hundreds of volunteers, coordinated by the Global Genes Project, are working on a multitude of outreach activities leading up to Rare Disease Day 2011. Some of the events and activities in progress for Rare Disease Day 2011 are as follows:
• The National Institutes of Health Office of Rare Diseases Research (ORDR), in association with the Global Genes Project, is encouraging all attendees to wear their favorite pair of jeans to their day-long Rare Disease Day 2011 celebration at the Lipsett Amphitheater at the NIH Clinical Center. Dr. Francis S. Collins, Director of the National Institutes of Health and one of the leaders of the Human Genome Project (HGP), is expected to address attendees.
• Pfizer’s rare disease research and development unit based in Cambridge, MA, will be encouraging attendees at their Rare Disease Day 2011 event to wear jeans to help raise awareness. In June 2010, Pfizer established a new research unit devoted to developing new biologics to treat rare diseases.
• Shire, one of the world’s leading specialty biopharmaceutical companies, will encourage employees to wear jeans to work and plans to hand out over 5000 denim blue ribbons to employees at various corporate locations worldwide.
• Over 200 volunteers, including numerous children, have made over 20,000 Denim Jeans Ribbons™ that will be distributed to rare disease patient advocacy groups, pharmaceutical companies, biotech firms, schools and hospitals on Rare Disease Day 2011. Blue denim ribbon making efforts will continue leading up to February 28, 2011, with a goal of reaching 50,000 handmade ribbons.
• Over 300 volunteers ranging from jewelry designers to crafters are working on the 7,000 Bracelets for Hope™ campaign. These blue denim inspired “cause bracelets” will be distributed on Rare Disease Day 2011 to children and families battling rare diseases and serve as symbol of hope to find treatments and cures.
• A number of schools have signed up to host “Wear That You Care™” denim awareness days and plan to distribute Denim Jeans Ribbons™ in an effort to support the rare disease community.
For more information on how to get involved and support Rare Disease Day 2011 in your local community or to get your Denim Jeans Ribbon™, visit the Global Genes Project at www.globalgenesproject.org.
About The Global Genes Project

The Global Genes Project is a leading nonprofit rare disease advocacy organization that educates the public about the prevalence of rare diseases worldwide. To see our full list of supporters, visit http://www.globalgenesproject.org/sponsors.php or follow us on Facebook at http://www.facebook.com/group.php?gid=214263320931#!/group.php?gid=214263320931.

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

Opinion

By Jonathan Jacoby

The Jewish community has long been a leader in supporting medical research and education efforts, especially with regard to those diseases that disproportionately afflict people of Ashkenazi Jewish descent. Creating coalitions with other patient advocates in the rare disease community would give American Jews an opportunity to advance efforts to fight diseases that disproportionately affect Jews, as well as to participate in an important public policy debate involving millions in this country.

For example, Jewish agencies should get behind suggestions made by John Crowley, the biotech executive whose efforts to find a treatment for his children’s genetic disease were dramatized in the recent film “Extraordinary Measures.” Testifying on behalf of the Biotechnology Industry Organization last month before the Senate Committee on Health, Education, Labor and Pensions, Crowley pressed for improving the federal regulatory environment for pediatric rare diseases, including establishing a specialized review office at the Food and Drug Administration for genetic and biochemical diseases.

Most genetic diseases are rare, including those that afflict Jews in greater numbers. Patient advocates for rare diseases are confronted with the stark reality that, until recently, few biopharmaceutical companies have been interested in developing therapies for uncommon disorders. Indeed, the definition of a rare or orphan disease is based on the assumption that the prevailing financial model for drug development will only be effective when there is an affected population of 200,000 people or more.

Twenty-seven years ago, Congress approved the Orphan Drug Act to provide incentives to the biopharmaceutical industry to develop more products for rare diseases. Despite this act’s achievements (1,892 orphan designations and 326 treatments approved), 95% of rare disorders remain without a specific treatment approved by the FDA. Treatments for many of these diseases may never be developed, because complexities of the regulatory environment make it hard to attract investment for some rare or difficult diseases, even though the science may be available.

A specialized FDA review office for genetic and biochemical diseases — which has been heavily promoted through a growing campaign of patient advocacy groups called Cure the Process — could focus on specific diseases needing increased expertise and provide assistance on rare disease issues to other FDA review offices. A more specialized drug review by experts at the FDA who understand complex genetic disorders would stimulate and facilitate the development of more therapies to effectively treat rare diseases.

The creation of this new division would send a strong signal to the biopharmaceutical industry and to investors that the FDA is working to improve the regulatory path for thousands of rare disorders. This new division would help drive more investment in early stage biopharmaceutical companies focused on rare diseases.

Regulatory changes can have a huge impact. For instance, an FDA policy change in the early 1990s spurred a remarkable explosion of biomedical innovation leading to the approval of 29 new AIDS drugs. These drugs helped make HIV into the chronic but managed disease that it is for many patients today.

Establishing a new division at the FDA may seem like an esoteric objective to the layperson, but it is, in fact, a critical policy matter affecting the lives of millions of Americans, including a significant number of our fellow Jews.

Jonathan Jacoby is CEO of the R.A.R.E Project, which works with rare disease patient-advocates to promote rare disease advocacy, research and education.

Our democratic system was created to be responsive to the people; however you could argue that it was also specifically designed with checks and balances to only allow incremental change.  With an urgent need for treatment, families affected by a rare disease only become frustrated with this process.  Ask any patient advocate in D.C. and they will warn you about the difficultly or even impossibility of moving a bill through Congress.  Most advocates will spend most of their careers trying to prevent the loss of services, benefits, or funding and rarely have the opportunity to make real steps forward to improve access to treatments.

In fact, there has been no major legislative initiative to accelerate treatments for rare diseases since the passage of the Orphan Drug Act in 1983 – more than 25 years ago.  Science has made great progress over this time; however policy has not followed pace – until now.

Congress is listening and they want to help.  The Senate’s H.E.L.P. (Heath Education Labor & Pensions) Committee and Appropriation Subcommittee on Agriculture, FDA and Rural Development both held Congressional Hearings in the last month on how to increase the development of new treatments for rare diseases.  A Rare and Neglected Disease Congressional Caucus is also forming to address the needs of patients.  There is even new funding for rare diseases in the NIH and FDA budgets and new requirements for guidances for the FDA to improve the regulatory process.

While it is great to hear about all of the very exciting programs that have been initiated in the last year, there is no time to rest.  Too many children will still wake up tomorrow without treatment.  We must use this momentum to ensure our progress translates into real treatments.

Now is the time when we need your help.  You must become an advocate and take an active role in the political process.  Organizations like The Kakkis EveryLife Foundation, NORD and others are only powerful when their members and supporters take action.  Congress must hear from you – the patients, parents, grandparents, doctors, care takers, academics, and scientists.

I urge you to contact your Members of Congress – write letters, make phone calls, and meet with staffers in the district office to tell them how important advancing new treatments is to you.  Our Foundation has launched its political action center on its CureTheProcess website to allow you to easily contact your Members of Congress, and learn more about current legislation.

You have the power to make a difference.  Click here now and help turn science into medicine.

Contributed by Julia Jenkins, Kakkis EveryLife Foundation

This public hearing is intended to gain from health care providers, academia, industry, patients, and other interested persons their perspectives on various aspects of the development of medical products for the diagnosis, treatment, or management of rare diseases. The input from this public hearing will help inform the work of FDA’s committee for rare diseases

Jonathan Jacoby, CEO R.A.R.E Project will present case studies on therapeutic candidate generation, focusing on;

• Challenges of patient-driven R&D
• Challenges and successes with biomarker identification
• Experience with Orphan Drug Designations
• Individual investigator INDs and IND exemptions
• NIH clinical trials
• Barriers to recruitment and participation in CTs

Following the presentation, Jacoby will provide recommendations that include the importance of very small CTs as a pathway to regulatory approval. Jacoby will present this testimony from 11:40 – 12:00, June 29, 2010.

The meeting will be webcasted and any interested persons are encouraged to join:

• Dates: June 29-30, 2010
• Time: 9:00 AM to 5:00 PM ET
• Webcast addresses (will be active at the time of webcast):
  June 29 – collaboration.fda.gov
  June 30 – collaboration.fda.gov

From The Motley Fool | 5/25/10 :

Orphan drugs don’t have the potential patient numbers that cholesterol or diabetes drugs have, but that doesn’t mean you should ignore them either.  What they lack in volume they make up for in price.

Technically speaking, a drug can get orphan drug status if it treats a disease that affects less than 200,000 people in the U.S. A lot of cancers fall into that range — for instance, GlaxoSmithKline’s (NYSE: GSK) Tykerb has orphan drug status for gastric cancer. But the true orphan drugs treat diseases you’ve probably never have heard of.

A little protection goes a long way

There really are some financial incentives to gaining rare disease orphan drug treatment status. The government kicks back up to 50% of the cost of clinical trials in the form of tax credits. And the Food and Drug Administration comps the fee established by the Prescription Drug User Fee Act (PDUFA) that drugmakers pay when submitting their orphan disease marketing application.

But the biggest advantage comes from the exclusive sales of the rare disease orphan drug treatment for seven years in the U.S. and six to 10 years in the EU that governments give orphan drugs. It doesn’t matter whether patents expire during that time, the regulatory agencies will hold off approving generic competition until the rare disease orphan drug treatment exclusivity has expired.

The Motley Fool:

Being the first to treat a disease also offers an indirect lockup of patients from other branded drugs. If the drug works well enough, patients are less likely to enter a clinical trial for a competitor’s experimental drug, making it harder for the competitor to get on the market. Being first doesn’t provide an absolute monopoly — in addition to Genzyme’s (Nasdaq: GENZ) Cerezyme, Shire’s Vpriv is approved for Gaucher disease and Protalix and Pfizer (NYSE: PFE) are also working on a Gaucher disease treatment — but a little protection can go a long way.

On the road to bigger things

Sometimes the orphan disease drug status is just a starting point. Because the proteins that drugs interact with are often involved with other diseases, treating an orphan disease can be a good starting point before launching into another disease that may not be so rare.

READ THE COMPLETE ARTICLE AT MOTLEY FOOL