Thirty (30) million people in the US and 350 million people worldwide are affected by rare disease.  Rare disease affects more children and their families then AIDS and CANCER combined worldwide.  The RARE Project, developed by various rare disease leaders, is an organization with 3 simple goals; to help bring awareness to, resources for and unity to a much deserving community worldwide.

The RARE Project is proud to announce its new Board of Directors and Advisory Board that have been assembled to help drive the organization, ensure it meets its mission to help drastically impact the global rare disease community.  Included on the board are leaders who have a variety of expertise, all critical to the success of the RARE Project;

• Bruce Crair, Technology executive,
• John Crowley, CEO Amicus Therapeutics and parent advocate,
• Jesse Dylan, Founder, Wondros,
• Hugh Hempel, Technology executive and parent advocate,
• Caroline Loewy, COO Corcept Therapeutics and parent advocate
• Peter Pellizzon, Managing Director Hollecrest Capital and Philanthropist

The BOD will help ensure that RARE meets its mission and goals and will continue to help identify other strategic board participants.  “The RARE Project in its first few years has created tremendous momentum, partnerships and alliances and is now at a point where it needs to take the organization to the next level”, stated Nicole Boice, President RARE Project. “Assembling this team will allow us to continue to build on the organizations early success, and and ensure the growth, sustainability and longevity of RARE’s programs and initiatives.    RARE’s BOD is committed to the RARE disease community and is working together in an effort to make life better for those living with rare disease.

The first BOD meeting this past June focused on redefining the mission which states;  The RARE Project exists to raise rare disease awareness, unify and empower a vibrant global rare disease community, and fund innovations to support ‘in-their-lifetime’ rare disease research.   The entire team is committed to ensuring that RARE meets the goals that the mission sets forth.  The RARE team will be continuing to develop programs and campaigns that address it’s three core areas of focus, and are already looking ahead to a compelling 2012.  RARE Programs and initiatives include: The Children’s Rare Disease Network, The RARE Blog, The RARE Fund (launching in 2012), and The Global Genes Project.

In addition to the BOD, the RARE Project is continuing to build a compelling Advisory Board that consists of expertise within Science and Patient Advocacy.  Currently, Global Genes Project is proud to announce its early Scientific Advisory Board Members;

• Beth Ann Baber PhD, Nicholas Conor Institute for Pediatric Cancer Research
• Ian Eslick PhD,  MIT Media Lab
• Emil Kakkis PhD, Ultragenyx
• Jimmy Lin PhD, Johns Hopkins
• Christina Waters PhD, Phillip Morris
• John Wilbanks JD, Science Commons

In addition, Patient Advocacy Advisors will be a critical group adding their personal experiences and expertise to many of the RARE Project patient advocacy and community building initiatives globally.  A thank you to the RARE Project’s early Patient Advocacy Advisors;

• Audrey Gordon JD, Progeria Research Foundation
• Chris Hempel, Addi and Cassie Fund
• Elizabeth Joshi, Joubert Syndrome Foundation
• Sue Kahn, National Tay Sachs Foundation
• Brad Margus, AT Children’s Project
• Lisa Moreno-Dickinson, StopCAIDNow

Also in the news, RARE Project is proud to announce the addition of Dean Suhr,  MLD Foundation, will be joining the team as COO and Community Development Director.

For more information please join us at www.rareproject.org

As we continue to advocate for increased funding and improved specialized review divisions at the FDA, we are encouraged by the recent positive action coming from the Commissioner’s Office.  Commissioner Hamburg has reorganized the top level of the Agency.  We applaud her decision to appoint Dr. Stephen P. Spielberg to the new position of Deputy Commissioner for Medical Products and Tobacco.  Spielberg will provide high-level coordination and leadership across the Centers for drugs, biologics, medical devices, and tobacco products.  The Centers will remain as discrete management entities under their current expert leadership.

Spielberg, a distinguished physician and researcher, was most recently the Director of the Center for Personalized Medicine and Therapeutic Innovation at Children’s Mercy Hospital in Kansas City.  Prior to that, Spielberg was the dean of Dartmouth Medical School and vice president for health affairs at Dartmouth College.  He also spent 11 years in the pharmaceutical industry, working for Merck and then Johnson & Johnson, as vice president for pediatric drug development.  Having a qualified executive who understands the drug development process is an important first step in improving the regulatory process.  Additionally, his work with personalized medicine should make him an advocate for accelerating treatments for rare diseases, as personalized medicine faces similar regulatory challenges.

Facing increasing concern from industry, patient organizations and Congress that the FDA’s drug and device approval process has become so slow, costly and unpredictable that it is actually stifling innovation, Commissioner Hamburg appears to be making productive and forthright changes to address these concerns.

The Foundation supports a plan that will provide additional funding for the FDA in order to create more specialized review divisions, provide increased academic connections for senior review staff, and establish increased access to accelerated approval for rare diseases.  We hope the Commissioner and Spielberg will continue to make the bold changes that are needed to improve the regulatory process and bring life-saving treatments to patients.  For more information about our efforts go to CureTheProcess.org.

A new paper offers a possible road map for getting more drugs approved to treat rare diseases. One key recommendation: improving access to the FDA’s accelerated approval pathway, originally developed to quickly get treatments to patients with life-threatening diseases.

The paper, written by Brigitta Miyamoto and Emil Kakkis of the Kakkis EveryLife Foundation and published today in the Orphanet Journal of Rare Diseases, says the FDA should offer specific guidelines on how companies seeking to develop drugs for rare diseases can better utilize accelerated approval.

Kakkis helped develop and guide the approval process for three treatments for rare diseases at BioMarin Pharmaceutical, where he served as chief medical officer. He’s now CEO and president of Ultragenyx Pharmaceutical, which recently announced $45 million in financing to support the development of rare-disease therapies. (So he’d also benefit from anything that helped those drugs get to market more quickly.)

The FDA created the accelerated approval process in 1992 in the wake of advocacy by HIV/AIDS patients angry at the slow pace of drug development. It allows drug companies to ask FDA to approve a new therapy using so-called surrogate endpoints — blood tests, urine tests, or other biomarkers that likely predict a patient will benefit from a drug but aren’t on their own a measure of improved health. If the drug is approved, the company has to agree to keep testing to make sure that the results hold up.

(And sometimes they don’t. Just last week an FDA appeals panel recommended the revocation of accelerated approval for Avastin for use in breast-cancer patients after studies showed the drug provided minimal benefits.)

In less-common diseases, drug development is difficult all around. There is often very little understanding of the disease, its natural history and how to treat it, and scant data on managing or treating patients. That makes it very hard for companies to know what information the FDA will need to decide that a surrogate endpoint meets its standard of being “reasonably likely” to predict a benefit in a patient.

Anne Pariser, associate director for rare diseases in the Office of New Drugs at the FDA, tells the Health Blog that it’s crucial to be sure surrogate endpoints are valid indicators of the drug’s efficacy; some have failed to predict outcomes. So “you need evidence to support” any surrogate endpoints. She also notes that drug development fails for many reasons, so easier access to accelerated approval is no panacea.

Kakkis says his foundation plans to hold a workshop in the fall to jump-start a discussion on getting FDA to write guidelines on just how much evidence a company needs to meet the “reasonably likely” standard, and whether the criteria should be different for at least some rare diseases.

In the paper, Kakkis and his co-author identified 15 rare diseases where a treatment reversed the disease in animal models but still stalled in drug development. The reasons why varied, he said. Some were looked at by companies but deemed too expensive to successfully develop, others sat in academia without attracting investment. A few languished for years but are being considered again. All of them, he adds, could benefit by clearing the path to accelerated approval.

If anyone can do it, Dr. Emil Kakkis can.  One of the rare disease communities scientific champions (also one of GQ Magazines recognized Rock Stars of Science), Dr. Kakkis comes at his science with a passion and ferver that moves mountains.  How incredibly lucky is this community to have a scientist like Dr. Kakkis.  With very aggressive goals, Dr. Kakkis is working to bring 10 treatments to the community in 10 years!  Talk about accountability!!!    We are hopeful that this will become an important trend that is pursued by other biotechs, and that Dr. Kakkis like some of the other rare disease focused biotechs, will also show that it makes sense to invest in rare disease.  We are rooting for you and your team Dr. Kakkis!

Ultragenyx Announces Series A Financing
$45 million to support development of rare disease therapeutics

June 20, 2011 10:03 AM Eastern Daylight Time
NOVATO, Calif.–(EON: Enhanced Online News)–Ultragenyx Pharmaceutical Inc. today announced the closing of a $45 million Series A financing to support the development of rare disease therapeutics. The co-lead investors are TPG Biotech and Fidelity Biosciences, joined by European investor HealthCap, and Pappas Ventures. This funding will advance multiple rare disease product programs in the pipeline, as well as the development of new product candidates and partnerships. The lead product, UX-001, a first-in-class therapy for treatment of Hereditary Inclusion Body Myopathy (HIBM), is expected to enter the clinic in 2011.

“I am pleased and excited to have found a set of investors with the insight to support the development of a new rare disease company with multiple product candidates. They believe in the concept that a tightly focused company of committed rare disease development specialists will be able to create value as well as bring a series of novel, life-changing therapeutics to patients affected by rare and ultra-rare disorders,” said Emil D. Kakkis, M.D., Ph.D., Chief Executive Officer and President of Ultragenyx.

Dr. Kakkis formed and funded Ultragenyx in April 2010, based on his experiences in academia and over 11 years at BioMarin, where three rare disease products were approved during his tenure. The company has received additional funding from John Klock, M.D., and William Aliski, both experienced rare disease company executives. Joining the Ultragenyx Board of Directors are Eran Nadav, Ph.D. (TPG Biotech), Ben Auspitz (Fidelity Biosciences) and Mårten Steen, M.D., Ph.D. (HealthCap).

The company will be located in Novato, CA.

About Ultragenyx

Ultragenyx^TM develops therapeutics for rare diseases, sometimes referred to as Orphan products. Founded in 2010, the company is led by Emil Kakkis, M.D., Ph.D., former CMO of BioMarin Pharmaceutical. Efficient and effective development strategies are essential for success in the rare disease space, in which information may be incomplete or ambiguous, and few development precedents exist. The management team’s experience in selecting and developing products with clear mechanisms of action for untreated rare diseases will help Ultragenyx create life-changing therapeutics by leveraging existing yet undeveloped science for these little-known indications.

For more information on Ultragenyx, please visit the company’s website at www.ultragenyx.com.

Congratulations to our Grand Prize Winners:
Children (ages 5-11): Tia Piziali “Excited Circles” and Alexis Almeida “sunburst”
Teens (ages 12-17): Holly Henry “the mask,” Kara Denson “Split Personality” and Janelle Radney “Wait for Me”
Adult (age 18+): Kathy Michels “Are We Done Yet?,” Judi Bartnicki “Morgan White Jr” and Haley Hopper “Content”
Adult Photography/Digital Art (age 18+): Trini Garro “Madonna of the Wash” and Heidi Montoya “La Vejiga”

Click here to see all the full list of winners and the winning works of art.

FDA is currently in the middle of a flurry of activity aimed at better focusing its regulation of rare disease treatments, but the agency disappointed some outside advocates by delaying the possibility of creating a special rare disease review division within FDA for at least a year. That news came to advocates from FDA staffers an hour before a Senate Appropriations subcommittee looking at federal regulation of these diseases last Wednesday (June 23), a source said. More surprising to the source were comments from National Organization for Rare Disorders leadership during the hearing that the establishment of the new agency division would be a mistake.

FDA has two working groups addressing the issue and a number of rare disease regulatory advocates are proposing improvements to the agency’s regulatory regime. Senate appropriators are also eying whether legislation is needed.

The concept of a rare disease review division has been championed by the Emil Kakkis and his foundation, which has long advocated for Congress to provide FDA $10 million to create the special division. Kakkis and other rare-disease treatment advocates argue that gathering FDA’s experts in the field into one group would help accelerate the regulatory process.

The move would have an “immediate impact on new treatments” and would signal to the biotechnology industry that the agency was “serious” about this effort, Kakkis told the Senate FDA appropriations subcommittee. A special division would encourage more investment and allow for products already in the pipeline to be more quickly acted on, Kakkis said.

FDA should “have a division that has particularly trained people in the diseases that are both chemical, muscular or some of the other genetic rare disorders that take specialized expertise,” Kakkis told the subcommittee. The best regulation would come from consolidating FDA’s experts who are “scattered throughout” the agency, adding staff and building a division where staffers can avoid “having their expertise diffused and not leveraged over time,” Kakkis said.

The problem without a dedicated division also comes with a lack of centralized responsibility for reviewers, Kakkis added. “There are definitely people [in FDA] with expertise who can review these, but often they are called on to do other tasks,” Kakkis said. “This is a way to get better decision-making.”

But a Kakkis foundation staffer told FDA Week that meetings between advocates and FDA staffers prior to the hearing indicated that, while conceptually supportive of the idea of specialization, the timing did not work for the division to be created this year. That impression became formal an hour before the hearing.

The source said his reading of the situation was that FDA was possibly waiting until after drug user fees are reauthorized in 2012 to create the office.

The “biggest shock” from the day, the source said, came from Diane Dorman, the National Organization for Rare Disorders’ vice president for public policy, who said NORD flat-out disagreed with the concept. Dorman said NORD was “somewhat concerned” because of the worry that a separate division would create “narrow silos” within FDA.

By way of example, Dorman described the National Institutes of Health’s office on rare diseases as a nimble group with which the office’s director can leverage opportunities across all NIH offices and institutes without barriers. There’s a possibility to create an ad hoc group, “but creating an additional silo [within FDA] in our opinion may cause problems to access,” Dorman told the subcommittee.

In his response, Kakkis said without the review division FDA “cannot alter the review process for drugs in a way that is fundamental.” Creation of the division would let staffers be “personally responsible to make decisions,” he added.

“I think you’d want your drugs to be reviewed by people who are trained in the area, that specialized in it, and really understand it,” Kakkis said.

FDA Deputy Commissioner for Science and Public Health Jesse Goodman said the agency is aggressively addressing orphan drug issues, pointing to two new expert working groups FDA established in March, the Rare Disease Review Group and the Neglected Disease Review Group.

Those workgroups “will look at all the ideas we’ve heard here” before issuing a report to Congress, Goodman said. The two groups were created to help implement language in the FY 2010 Appropriation Act, which directed FDA to establish the internal review groups to address rare and neglected diseases, and to report to Congress one year after establishing the groups before issuing guidance.

That language came at a request from Sen. Sam Brownback (R-KS), the ranking member on the subcommittee.

Other work recently undertaken by FDA include the agency’s Office of Orphan Products Development starting use of a new tool, the Rare Disease Repurposing Database, which identifies drugs deemed promising for rare illnesses and are already approved by FDA for another disease (see related story).

A “novel feature and major advantage of this database” is its focus on drugs that have already gone through the FDA approval process, Goodman noted in its written testimony. “Thus, repurposing of these drugs for a new rare disease indication might be attainable quickly, relatively inexpensively, and at great benefit to the patients involved.”

In February, FDA created a position of associate director for rare diseases in the Center for Drug Evaluation and Research, which serves as the center’s focal point to the orphan drug development community “in navigating the complex regulatory requirements for bringing safe and effective treatments to patients,” Goodman wrote.

The agency is also collaborating with other entities to help ramp up its rare-disease treatment efforts.

In October 2010, FDA will co-sponsor its first rare disease investigator training course, in collaboration with NORD and NIH. FDA is also planning a series of scientific workshops to address difficult rare disease research issues. And FDA and NIH are co-sponsoring an Institute of Medicine study to review national policy for rare disease research and related medical product regulation, with recommendations due this September.

Experts suggest that there are roughly 200 FDA-approved treatments for the nearly 7,000 rare diseases that exist globally. So “while there have been many successes, the unmet needs are huge,” Goodman told the subcommittee. Rare diseases are defined as diseases affecting fewer than 200,000 people in the United States.

The FDA estimates that a billion people worldwide are affected by at least one neglected disease like tuberculosis, malaria and leprosy.

These issues are FDA’s concern because “infectious diseases know no boundaries,” Goodman said. “Threats to health anywhere are threats to everyone.”

The agency also is preparing for public hearings on June 29-30 focusing on how it approves and encourages medical products for rare diseases. — Seth Freedland (sfreedland@iwpnews.com)