Update on the Use and Cost of Orphan Drugs

If a treatment or cure for Kennedy's Disease (SBMA) is found, the orphan drug act will be helpful. Below is an update from NORD.

Updated Study Analyzes Use and Cost of Orphan Drugs

Median annual cost for top 10 rare disease therapies is less than $10,000 per year

Washington, D.C., October 18, 2018— Despite a record-breaking number of new approvals, orphan drugs remain a nominal part of overall drug spending, accounting for only 9.6% of total sales in the U.S. in 2017, according to a new study released today by the IQVIA Institute. The study was commissioned by the National Organization for Rare Disorders (NORD) for the second year in a row to show trends in orphan drug usage and costs.

The major findings of the report are as follows:

• The Orphan Drug Act remains successful in encouraging the development and approval of orphan drugs. In 2017, the Food and Drug Administration approved 80 orphan indications and 57 just within the first eight months of 2018 -- shattering previous records. 
• The Orphan Drug Act has not been a major driver of drug pricing in the U.S. In 2017, the median price of the top 10 rare disease therapies used by the greatest number of patients was less than $10,000 per year. 
• In 2017, orphan drugs remained a small part of the overall medicine budget. Total drug spending in the United States in 2017 was $451 billion, with almost 56% spent on non-orphan traditional drugs, 34.7% spent on non-orphan specialty drugs and 9.6% spent on orphan indications of approved orphan drugs. That is a 1.7 percentage point increase over 2016, which is in line with increased FDA approvals. 

“2017 was a year of innovation and advancements in rare diseases, with more FDA approvals of treatments for rare diseases than ever before,” said NORD President and CEO Peter L. Saltonstall. “The recent IQVIA Institute study highlights the enduring importance of the Orphan Drug Act in making that progress possible.”

“It is critical to note that orphan drugs remain a sliver of overall drug spending in the U.S.,” Saltonstall said. “NORD remains committed to shining a light on the simple truths that illustrate how the Orphan Drug Act continues to be vital to the future of rare disease drug research and development.”

About 7,000 rare diseases have been identified, affecting approximately 30 million Americans. Many affect only a few hundred or a few thousand individuals. Rare diseases tend to be chronic, serious and life-threatening. More than 80 percent are believed to be genetic.

Information on the report, including a link to the study, is available on the NORD website at www.rarediseases.org/rareinsights.

Human Gene Editing

I have written posts a few times in the past about CRISPR, a technology that allows the editing of human genes. In my current book I'm writing, the idea of gene editing is an important aspect of creating super-healthy children.

The New York Times published the following article today. As with anything revolutionary in nature, their is controversy surrounding it.

Human Gene Editing Receives Science Panel’s Support

"An influential science advisory group formed by the National Academy of Sciences and the National
Academy of Medicine on Tuesday lent its support to a once-unthinkable proposition: the modification of human embryos to create genetic traits that can be passed down to future generations.

This type of human gene editing has long been seen as an ethical minefield. Researchers fear that the
techniques used to prevent genetic diseases might also be used to enhance intelligence, for example, or to create people physically suited to particular tasks, like serving as soldiers.

The advisory group endorsed only alterations designed to prevent babies from acquiring genes known to cause “serious diseases and disability,” and only when there is no “reasonable alternative.” The report provides an explicit rationale for genetic research that the federal government has avoided supporting until now, although the work is being pursued in countries like Sweden and China.

So-called germ line engineering might allow people to have biological children without fear that they have passed on the genes for diseases like Huntington’s, Tay-Sachs and beta thalassemia, and without discarding embryos carrying the disease-causing mutations, as is often done now. Though such cases are likely to be rare, the report says they should be taken seriously. ..."

Follow the link above to read the rest of the article.

The MDA Advocacy Newsletter just announced that the 21st Century Cures legislation passed the House and Senate. This is good news and another positive step forward in healthcare and research..

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21^st Century Cures

After more than two years of bi-partisan effort, a final version of 21^st Century Cures legislation (H.R. 34) passed in both the House and the Senate. You will recall that in July 2015, the House passed an earlier version of the bill (H.R. 6) and that multiple individual provisions similar to those in Cures also moved along in the Senate committee over the course of the year. The version of Cures passed by Congress this week represents a larger and more comprehensive bill that evolved over months as the House and Senate worked together. The next step is for the bill to be signed into law, which should happen quickly as President Obama has voiced strong support for the legislation.
21^st Century Cures includes many provisions that impact the discovery, development and delivery of treatments and cures for disorders under MDA's umbrella, and that impact access to services including:

• Increased biomedical research funding;
• Increased support for and modernization of regulatory review and oversight;
• Incentives for rare disease drug development;
• Advancing targeted therapies (S. 2030);
• Increased incorporation of the patient voice in drug development; and
• Six-month delay in implementing planned cuts for complex rehabilitative technology.

It's Time For The Final Push

I have written about this proposed bill several times over the past year. We were able to help push it through the House and now it is in the Senate's hands. I urge you to take 3-5 minutes to show your support for this CuresNOW bill.  Thank you.

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We Need #CuresNow for  Rare Diseases! Today, June 7, join rare disease advocates around the country and tell your Senators to support the Senate Cures Legislation. This month is the last chance for Senate Cures to pass before the Senate is out of session until after the November election. Senate Cures (also called the Senate Innovation Act for Healthier Americans) is the companion legislation to the 21st Century Cures Act, which passed in the House last year. This vital package includes billions of dollars to help the rare disease community, including new funding for critical research at the NIH and to accelerate drug approval at the FDA, and several other provisions.   NORD is proud to work with other advocates across the country to unite and make sure the Senate gets our message loud and clear!

Take Action Time is running out and we need your help to move the Senate Cures Legislation! Join advocates from across the country and call the Senate TODAY! Join the Thunderclap campaign (sign up before 3:30pm EDT) and use social media to add your voice Call your members of Congress to show your support for the Senate Cures Legislation Email your members of Congress and urge them to support this piece of legislation

Background: What is 21st Century Cures?

NORD worked with its Member Organizations and other patient advocates to help ensure the 21st Century Cures Act was passed in the House last year. As background information, here is some of the work that we accomplished together: Sent a letter to the House Energy & Commerce Commitee from NORD and Member Organizations Comments to the House Energy & Commerce Committee Urged Advocates to call Congresspeople to tell them to support 21st Century Cures Act

Alone we are rare. Together we are strong®.

NORD and Trio Health collaboration for Rare Disease Patients

NORD and Trio Health to Provide Real-World Insights to Improve Access and Quality of Care for More Than 7,000 Rare Diseases

Posted by Jennifer Huron

WASHINGTON, D.C./BOSTON ― April 28, 2016 ―The National Organization for Rare Disorders (NORD), the country’s leading voice for the rare disease patient community, is collaborating with Trio Health to leverage its innovative platform to monitor real-world patients. This unique insight will allow physicians, drug manufacturers, regulatory agencies and advocacy organizations to better serve and improve patient outcomes.

“If an FDA-approved treatment exists, patients deserve to have access to it,” said Peter L. Saltonstall, president and CEO of NORD. “No one is doing anything like this to serve the 1 in 10 Americans with rare diseases and we are thrilled to partner with Trio Health as part of NORD’s advocacy and patient assistance efforts.”

The collaboration creates the first common system for gathering data on treatment access and outcomes to produce insights that improve quality of care.  It marries NORD’s commitment to patient advocacy and improving access to therapies since its founding 33 years ago with new opportunities to leverage data-driven insights. Drug manufacturers and patient advocates will have the ability to gain insights into the overall patient experience, and the unforeseen roadblocks that can undermine effectiveness.

“Our joint goal is to bring transparency to the entire patient journey,” said Brent Clough, CEO of Trio Health, which has been providing similar real-world data on more common diseases since 2013. “Trio Health is honored to partner with NORD and fill a critical knowledge gap that can ultimately improve patient care.”

Orphan Product Extensions Now, Accelerating Cures and Treatments

Just received this update on the proposed OPEN Act. It is stalled in the Senate and we need to band together to show our support. Consider sending a message to your representatives. It takes less than three minutes to do and it could make a difference, Thank you.

Dear Rare Disease Advocate,

As you may already know, we are working to pass legislation called the OPEN ACT (Orphan Product Extensions Now, Accelerating Cures & Treatments) that could double the number of treatments available to rare disease patients.

The OPEN ACT was passed in the House of Representatives last July as part of the 21st Century Cures Act (HR 6). However, the companion legislation in the Senate has stalled, and we are running out of time to get it enacted into law in an election year.

Please CLICK HERE to send an email to your legislators asking them to co-sponsor this lifesaving legislation.

This bipartisan bill could bring hundreds of safe, effective, and affordable medicines to rare disease patients within the next several years by incentivizing drug makers to repurpose therapies for the treatment of life-threatening rare diseases. We need your help to make this bill a law.

Thanks again for your support.

NORD Press Release on approval of Ensuring Access to Clinical Trials

The Kennedy's Disease Association (KDA), as well as hundreds of other organizations, supported the passage of S. 139. Many of us living with Kennedy's Disease, as well as other Rare Disorders, also contacted their Senators and Representatives asking for their support.

NORD Issues Statement Applauding the Approval of Ensuring Access to Clinical Trials Act

Washington, D.C.—September 29, 2015—The following statement was issued by Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD), on yesterday’s approval of the Ensuring Access to Clinical Trials Act (S. 139) in the United States House of Representatives.

The House of Representatives echoed the U.S. Senate and showed its commitment to 1 in 10 Americans and their families by passing the Ensuring Access to Clinical Trials Act (S.139).  By passing S. 139, the House voted to remove income-related barriers to participation in clinical trials and toward developing much-needed treatments for the 7,000 known rare diseases, only a few hundred of which currently have FDA-approved treatments.

Today, 30 million people and their families have added hope that their tremendous unmet medical needs are one step closer to being addressed. Studying one rare disease can often lead to understanding of other rare diseases, as well as understanding of more common diseases.

As the Ensuring Access to Clinical Trials Act moves to the President’s desk, we close in on eliminating the challenges of rare diseases and to stopping them from altering and ending the lives of too many Americans much too soon.  NORD is proud to have supported this bill and to have advocated for its passage with the Cystic Fibrosis Foundation, Muscular Dystrophy Association, and many others in the rare disease community.

Peter L. Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)

Read more about the Ensuring Access to Clinical Trials Act here.

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About the National Organization for Rare Disorders (NORD)®
Established in 1983, the National Organization for Rare Disorders (NORD)® is the primary nonprofit organization representing all patients and families affected by rare diseases in the U.S.  NORD is committed to the identification, treatment and cure of all 7,000 rare diseases that affect 30 million Americans, or one in every 10 people.  NORD provides programs of advocacy, education, research and patient and family services to improve the lives of all people living with rare diseases. NORD represents more than 230 disease-specific member organizations and collaborates with many other organizations in specific causes of importance to the rare disease patient community. Join NORD at www.rarediseases.org and on Twitter at @RareDiseases.

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The MDA also made an announcement today regarding the passage of this act. You can read the announcement at this link:  http://cqrcengage.com/mda/advocacy/issues/eact

Another potential opportunity

Stem cell research is one of those volatile areas where it seems that about half the population is for this research and half is opposed to it. For many of us living with Kennedy’s Disease, stem cell research is an area of interest that we would like to see explored more thoroughly because of the opportunities it might hold.

It has been noted that one of the difficulties of using stem cells for motor neuron disease is the delivery vehicle. How do we implant healthy cells into the muscles? A question that also lingers is whether the healthy cells that are introduced will remain healthy, or will they become defective over time?

MDA’s Quest Magazine published an interesting article on the status of current gene and stem cell research in regards to neuromuscular diseases. Click on this link to read more on this subject: Moving Toward Next Generation Gene Therapy .

In my opinion, this appears to be an opportunity for advancing research on rare disorders.

FDA Benefit-Risk Assessment

The National Organization of Rare Disorders (NORD) has distributed the following message to its members.  The KDA participated in the initial solicitation of support, but the current proposed guidelines falls a little short by not asking for patient input.  For those of us with Kennedy's Disease, ALS or MS, for example, I believe we would like a say in this process ... especially as the disease progresses.

Below is NORD’s message plus the link to their letter:

Update on Benefit-Risk Assessments

Benefit-risk assessments are the basis of FDA's regulatory decisions in the pre-market and post-market review process of drugs and biologics. The patient voice in this process is critical. In our letter to the FDA September 27, 2011,we expressed our hope that patients and patient organizations would be able to contribute toward the agency's decision-making in assessing the benefit-risk equation of new products as well as the amount of risk patients at various stages of their condition are willing to take, the quality-of-life challenges they face, the ways they receive information about the proper use of their therapies, how often they see and receive information from their physicians, and other information that FDA medical reviewers and other relevant FDA staff may benefit from knowing directly from patients.

The FDA published a draft of their “Proposed Approach to Benefit-Risk Assessment in Drug Regulatory Decision-Making” in February 2013.  Unfortunately, this draft- as currently written- falls short of the expectations to include the patient voice in the process.

Please review our comments to the FDA, which are due May 7.  Your voice and support of these comments is critical.  To sign on to these comments, please contact Diane Dorman, ddorman@rarediseases.org, no later than Monday, April 29. If you have additional questions, please do not hesitate to contact her.

View the letter.
 
A paragraph from the linked letter needs reinforcing.
 
“We believe that the benefit-risk framework would be substantially improved if it were revised to include the meaningful and timely involvement of patients. FDA should also establish mechanisms to communicate with patients, and receive information from patients, to enhance the factual basis of individual benefit-risk assessments in real time. Such a mechanism would serve FDA’s goal of avoiding incorrect assumptions about patient risk tolerance, as well as providing the contextual information that is key to the benefit-risk framework. We also believe that FDA can, and should, exercise leadership to include patients and to include the regulated industry which has the resources to develop the kinds of contextual data that FDA seeks. As new drugs, particularly those to address unmet medical needs, are continuously being offered for review, FDA needs an enhanced timetable for assuring patient input.”

If interested, I recommend that you contact your Senators and Representatives expressing your support of ‘patient involvement’ in the benefit-risk assessment process.

30th Anniversary of the Orphan Drug Act

Most of you know I am an advocate of NORD (National Organization for Rare Disorders).  They have done a lot of good representing those of us living with rare disorders including Kennedy’s Disease.  This year is the 30th anniversary  of the Orphan Drug Act.  Below is a press release the KDA received today.

NORD Press Release

 

Launching a Year-Long Celebration: 30th Anniversary of the Orphan Drug Act and NORD

Washington DC, Jan. 4, 2013----Thirty years ago today, President Ronald Reagan signed the Orphan Drug Act into law to encourage the development of treatments for the millions of Americans with rare diseases.

The new law represented a triumph of patient advocates working with government partners, the media, and other supporters to address a critically important unmet need.

To get the law passed, an ad hoc coalition of leaders of rare disease patient organizations gave themselves a name -- the National Organization for Rare Disorders (NORD) -- and taught themselves how to be advocates for the desperate patients and families they represented.

Actor Jack Klugman, whose brother was dying of a rare disease, lent his support with an episode of his popular TV show, Quincy, M.E., dedicated to showing the need for treatments for rare disease patients.  Klugman later testified before a Congressional subcommittee and, when the bill became stalled in Congress, aired another Quincy episode that helped get the bill passed.

Exactly four months after President Reagan signed the bill into law, on May 4, 1983, the coalition of patient advocates formally established NORD as a nonprofit organization to provide advocacy, education, research and patient/family services for all Americans affected by rare diseases.

"It was an amazing accomplishment to get this desperately needed law enacted at that time," says NORD President and CEO Peter L. Saltonstall.  "Today and throughout 2013, we will be saluting all the pioneers who helped make it happen, celebrating progress to date, and working with our partners to find ways to accelerate the pace of progress."

Saltonstall added that the recent death of Jack Klugman (on Dec. 24th) added poignancy to the occasion.

NORD's president for its first 25 years, Abbey S. Meyers, is widely considered the primary patient advocate for the Orphan Drug Act.  She retired in 2008 and Saltonstall joined the organization at that time.

Government partners at the National Institutes of Health (NIH) and Food and Drug Administration (FDA) have provided major support and encouragement to the rare disease community through their implementation of the law.

On Monday, the FDA Office of Orphan Products Development will host an event for FDA staff and guests to observe the anniversary of the law.  FDA Commissioner Margaret Hamburg, MD, will speak, as will Saltonstall, with a video message from Meyers.  Special guests will include individuals and representatives of organizations being honored as "rare disease heroes" by FDA during the anniversary year.

NORD's year-long observance of the 30th anniversary will include a special section on its website where rare disease patients, researchers, and others will be invited to share stories about rare disease milestones and achievements.

On Rare Disease Day 2013 (Feb. 28th), which NORD sponsors nationally, there will be special activities to honor the history of the rare disease community.  In addition, NORD's annual gala in May and annual conference in October will have an anniversary theme.  There will be other special activities throughout the year.

The Orphan Drug Act provides financial incentives such as seven years of marketing exclusivity for products developed to treat diseases affecting fewer than 200,000 Americans.  There are 7,000 diseases considered rare in the U.S. affecting nearly 30 million Americans, or about 1 in 10 people.
In the decade before the law was passed, only 10 new drugs were developed by industry for patients with rare diseases.  Since 1983, more than 2,700 potential treatments have entered the research pipeline as "orphan products" and more than 400 have been approved by FDA.

Highlights over the years since the law was enacted have included the Rare Diseases Act of 2002, promoted by NORD, which made possible a Rare Diseases Clinical Research Network at NIH, and most recently the FDA Safety and Innovation Act of 2012, which includes many major provisions related to rare diseases.

"This year, we will be saluting the progress made to date but we'll also be focusing on the fact that much remains to be done," Saltonstall said.  "Most people with rare diseases still have no FDA-approved treatment.  And, even when treatments exist, many patients have trouble accessing them.

"During this anniversary year, NORD will move forward with renewed commitment toward the development of safe, effective treatments for all, and assurance that all patients with serious medical problems will have access to the treatments and services they need."

Infant DNA Tests Speed Diagnosis of Rare Diseases

I just read an article in the Health section of the New York Times that was interesting.  The whole article can be read by following the link above, but I have pasted a couple of sections below for your reading.

I believe the most interesting comment was, “… families greatly valued the diagnosis.”  Knowing if often far better than not knowing.  Or, as I have often said, “the best surprise is not surprise at all.”

I can understand the value of this type of testing over the older, more established methods of trial and error, … testing based upon symptoms that show up.

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…. The idea behind the test is to take advantage of what is known about disease symptoms to narrow the search for genetic aberrations. And that, said Dr. Joe Gray, an expert in genome analysis at Orego
 
“It’s a big genome,” said Dr. Gray, who was not involved with the study. “How do you know what part of it to search?” 
 
While more research needs to be done before the test is ready for widespread use, he applauded the effort. “If people don’t push the envelope like this, then we won’t get there,” Dr. Gray said. 
 
About one in 20 babies in newborn intensive care units has a genetic disease, and all too often, no one can figure out what it is. Scientists identified the faulty genes for about 3,500 of 7,500 known genetic diseases, said the paper’s authors, adding that about 500 have treatments.

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… With the new method, a computer program searches for genes based on the baby’s symptoms. And because it focuses only on genes that cause diseases in newborns, it avoids an ethical problem: findings that are unrelated to the problem at hand. In sequencing and analyzing the entire DNA, researchers may discover, for example, aberrations leading to conditions that occur only in adults. Do parents really want to know that their sick baby has a gene that increases the risk of Alzheimer’s disease? 
 
“They did it right, and you rarely hear that from an ethicist,” said Dr. Lainie Friedman Ross, an ethicist and professor of pediatrics at the University of Chicago. Dr. Ross, who praised the researchers for deliberately avoiding such incidental findings, was also not involved with the study.
The method is expensive, though, costing about $13,500. It is not yet covered by insurance. 
 
But Dr. Stephen F. Kingsmore, director of Children’s Mercy’s center for pediatric genomic medicine, expects to show it is cost effective and hopes insurers will pay for it. He noted that each day a baby spends in intensive care costs about $8,000, so any test that reduces that time would quickly pay for itself. A test that reveals a uniformly fatal genetic disease, for example, can allow parents and doctors to know that continuing life support in the hope the baby will improve is futile and only causing suffering. In the meantime, Dr. Kingsmore said, he is hoping a philanthropist will help defray the costs.

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… The biggest surprise for Dr. Kingsmore, though, was that the families greatly valued having a diagnosis. 
 
When a baby has a mysterious disease, he said, the family often embarks on a terrifying diagnostic odyssey. “Test after test is performed,” he said. “Some tests are invasive; the child is suffering. The child is getting worse and worse — most spend their entire lives in the hospital, and there is no answer.” 
 
Just knowing the answer can be a comfort. “Providing a definitive diagnosis somehow brings closure,” Dr. Kingsmore said. “It is something they can name.”

Can Our Society Afford to Provide Treatments for People with Rare Diseases?

I read the following press release from NORD (National Organization for Rare Disorders) this afternoon and felt it should be shared with a wider audience.

 

NORD Press Release

A Medical Adviser to the National Organization for Rare Disorders (NORD) Responds to this Question
 
WASHINGTON DC, Oct. 3, 2012----Can our society afford to provide costly medical care for patients with rare diseases, or would that money better be spent on treatments for more common conditions affecting larger numbers of people?
 
That was the question raised in a recent publication of the Hastings Center, a research institution dedicated to bioethics and the public interest.
 
Now a medical adviser to the National Organization for Rare Disorders (NORD) has responded to the report, writing that viewing rare diseases as "peripheral and unimportant" to the healthcare system would be a major mistake on several levels.
 
"Not only does it seem to justify abandoning millions of people but it also can undermine the integrity of the entire research enterprise," notes Doris T. Zallen, PhD, professor of science and technology in society at Virginia Tech and a long-time adviser to NORD.  "It can reduce the chance of finding successful treatments for ALL diseases -- common and rare alike."
 
A rare disease is defined in the U.S. as one affecting fewer than 200,000 Americans.  There are approximately 7,000 such diseases affecting nearly 30 million Americans, two-thirds of them children.  Only a few hundred of these diseases have medical treatments, and only a small number are being studied by researchers to develop treatments.
 
The current investment in research on rare diseases is small, Dr. Zallen writes, and further reducing research on rare diseases by deciding that our society can't afford the cost of providing treatment would "harm the broad scientific enterprise" by discouraging young scientists from choosing that career path.
 
Because rare diseases often have a singular genetic basis, she writes, "the study of rare diseases has already provided fundamental understandings of genetic systems, biochemical pathways, and DNA-repair mechanisms that have helped elucidate the basis of, and improve treatments for, common diseases.  The blockbuster drugs Botox and Viagra were originally developed to treat benign essential blepharospasm and pulmonary hypertension, two rare disorders."
 
Since there is little research funding for rare diseases, many patient groups try to raise money themselves, conducting car washes, bake sales and garage sales.  Often, it takes many years for these small patient groups to raise enough money to fund a study.
 
At a recent meeting of NORD's medical advisers, Dr. Zallen writes, "we struggled to decide which of two excellent research grant submissions should receive the modest available funding.  Even with all its hard work, the patient group providing the funding had raised only enough money for one seed grant."
 
People with rare diseases are not asking for "preference" when it comes to allocation of resources but only a "fair shake", Dr. Zallen adds.  "The tax dollars used for government research programs come out of their pockets too, and society has an ethical duty not to punish minorities because of their small size.  Not only they, but the wider community as well, would benefit -- since such research is essential to the health of the overall medical science enterprise."
 
Dr. Zallen has received numerous awards and honors for her teaching, research and outreach activities.  An expert on topics related to bioethics, she helped write the federal guidelines to protect human subjects in gene therapy experiments and is the author of the book, Does It Run in the Family? A Consumer's Guide to DNA Testing for Genetic Disorders.
 
The full text of Dr. Zallen's response and a link to the original article are available on the NORD website (www.rarediseases.org).

Bipartisan Action Offers Rare Disease Patients Hope

A NORD press release today announced the successful results of two years of work by NORD and its membership.  I wrote about the House’s passage a few months ago, and today, after the Senate passage, the bill goes to the President for his signature.  This is a major step forward and will hopefully help those of living with rare disorders. 

The Kennedy’s Disease Association thanks all those that worked so hard to get this bill passed.

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Washington DC-----Millions of Americans who have serious rare diseases and no treatment may face a brighter future as a result of a bill approved today by the U.S. Senate, according to the National Organization for Rare Disorders (NORD).

"We salute the Senate for decisive and bipartisan action in approving the FDA Safety and Innovation Act (S. 3187)," said Peter L. Saltonstall, president and CEO of NORD.  "And we applaud the House of Representatives for approving in a similarly bipartisan manner the House version of this bill last week."

Saltonstall said the legislation, which now goes to President Obama for his signature, provides broad-ranging and innovative measures to speed the development of safe and effective treatments for people who desperately need them.

"Only about 250 of the nearly 7,000 diseases considered rare in the U.S. have therapies," he said.  "But treatments are desperately needed because most rare diseases are serious, many are life-threatening, and about two-thirds of the patients are children."

He added that "NORD and its members have worked long and hard to raise awareness of the challenges of living with rare diseases.  We are grateful for the hard work and thoughtful deliberation that both the House and Senate have brought to this process."

Among others, some features of the bill that Saltonstall said were especially important to NORD and the rare disease patient community include:

• enhancing accelerated patient access to new medical treatments
• encouraging the development of Humanitarian Use Devices, or medical devices for small patient populations
• providing for accelerated development of "breakthrough therapies" -- or ones that show early promise
• enhanced consultation with rare disease medical experts and
• a rare pediatric disease priority review voucher incentive program

The bill approved by the Senate today and the one approved by the House last week are the result of a process that has been underway for nearly two years and for which NORD has provided significant input, the reauthorization of the Prescription Drug User Fee Act (PDUFA). This legislation, which authorizes the Food and Drug Administration (FDA) to collect user fees from companies seeking to have products reviewed, must be reauthorized every five years.

NORD Calls Bill Passed By Senate Today Most Important Since Orphan Drug Act

The KDA received the following announcement yesterday from NORD (National Organization for Rare Disorders).  We are a member of NORD and supported this proposal.  Its passage is another important step for those of us living with a rare disorder. 

Key provisions of the bill are outlined below including an accelerated approval process as well as providing incentives to researchers to provide more focus on rare disease therapies.  Another important provision will allow for an evaluation of patient tolerance to risks for certain therapies including greater patient feedback.

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Praises Senate for Addressing Needs of Rare Disease Patients

May 22, 2012, WASHINGTON, DC--- The National Organization for Rare Disorders (NORD) applauds legislation passed today by the U.S. Senate -- S 3187, the Food and Drug Administration Safety & Innovation Act of 2012 (FDASIA) -- and says it contains the most comprehensive improvements to public policy for rare disease therapies since the landmark Orphan Drug Act of 1983.

“NORD has been working very hard over the past two years to ensure that the interests of the rare disease patient community are well represented in this important legislation,” said NORD President and CEO Peter L. Saltonstall.  “We are thrilled that our nation’s leaders in Congress are working together and making substantive policy improvements to bring new therapies to patients who desperately need them.

“When this process began over two years ago,” he added, “our focus was on obtaining a commitment by the FDA to further incorporate the exceptional nature of rare diseases in the review of promising new therapies and medical devices.  What we’ve been able to achieve since then, with our members and advocacy partners in the rare disease community, is nothing short of astonishing.  Our sincerest thanks go to all who have helped to make this day possible.”

The bill contains numerous provisions that will enhance the regulatory process at FDA, incentivize further investment by innovators into rare disease therapies, and expand the scientific armamentarium needed to bring the most cutting-edge therapies to patients as quickly as possible.

Specific commitments by the FDA include:

• Expanding the Rare Disease Program at the Center for Drugs and extension of the program to the Center for Biologics
• A new initiative to further qualify and categorize biomarkers for use in clinical trial design, including under Accelerated Approval and similar mechanisms
• A new initiative to evaluate patient tolerance to risk of proposed therapies and to incorporate more patient input in the review process

Legislative provisions in the bill include:

• Codification and modernization of the Accelerated Approval process
• Improvements to policies governing conflicts of interest that will allow expert participation on FDA Advisory Committees
• Creation of a new category of "breakthrough" therapies that will encourage early public and private collaboration to aid in clinical trial design and review
• Expanded access to experts for rare diseases beyond the review process
• Expansion of devices intended for use in very small patient populations, including the possibility of profit for such devices when used in adult populations

The US House of Representatives is working on companion legislation (HR 5651 – the Food & Drug Administration Reform Act of 2012) that has already been unanimously approved by the Committee on Energy & Commerce in a similar bipartisan fashion.  Adoption of that measure is expected when the House resumes its session at the beginning of June.

Both the House and Senate bills are the culmination of a process conducted every five years to reauthorize the Prescription Drug User Fee Act (PDUFA) and related legislation that provides critical funding to allow FDA to review potential new therapies in a timely manner.  As the voice of rare disease patients and their families in the U.S. since 1983, NORD has served as the primary representative of the rare disease patient community over the past two years as needs were prioritized and the legislation now being voted upon by the House and Senate was drafted.

Global Rare Diseases Registry (GRDR)

The Kennedy’s Disease Association received an email from the National Institute of Health (NIH) regarding a pilot program they are trying to establish. The concept is interesting and the opportunities it represents for rare diseases like Kennedy’s Disease makes it something worth looking into further. There is a lot of information available on the website and the program is only in the exploratory stage, but I felt it is worth bringing to my readers’ attention.  [Note:  I have highlighted some key points]  I would be interested in your thoughts on whether this appears to be an opportunity.

About the program

The Office of Rare Diseases Research (ORDR) within the National Institute of Health has launched a pilot program to establish the Global Rare Diseases Patient Registry and Data Repository (GRDR). The goal is to enable analyses of data across many rare diseases and to facilitate clinical trials and other studies.

Patient organizations are invited to participate by collecting patient clinical information. The platform being developed can be used by any patient group to establish a registry or to contribute de-identified patient data to the GRDR.

Why Rare Disease Registries

Rare diseases comprise a clinically heterogeneous group of approximately 6,500 disorders each occurring in fewer than 200,000 persons in the USA. They are commonly diagnosed during childhood, frequently genetic in origin, and can have deleterious effects on long-term health and well-being. Although any given condition is rare, their cumulative public health burden is significant with an estimated 6-8% of individuals experiencing a rare disease at some point during their lives.


Because these disorders are so uncommon, no single institution, and in many cases no single country, has sufficient numbers of patients to conduct generalizable clinical and translational research. Geographic dispersion of patients has been a major impediment to patient recruitment into clinical trials. Most rare diseases do not have a specific International Classification of Diseases (ICD) code, which hampers research using existing administrative databases.

Best estimates are that fewer than 20% of rare diseases have registries, and most are operated by patients’ organizations or academic researchers. Although most registries are country-specific, there are a small number of international efforts—e.g., in Cystic Fibrosis and Neuromuscular Diseases—that are demonstrating the benefits of combining data across international boundaries.

Identifying patients and gathering genetic test results and clinical status parameters for many rare diseases is laborious and expensive. The Global Rare Diseases Patient Registry and Data Repository (GRDR) allows any rare disease population, regardless of size, to collect patient data that can identify clinical trial candidates and fuel research. By assembling many small patient registries into a common data repository, economies of scale can be realized and researchers will have the ability to look beyond a single gene/indication which may reveal non-obvious associations between genes and diseases.

How Do Registries Work?

A registry is a systematic collection of standardized data on a group of patients. The starting point of a registry is to develop a list of patients. Once patient group is defined, a variety of data types can be added. Data can be entered into a registry by patients, clinicians, researchers, or directly imported from electronic health records. Scientists and pharmaceutical companies are more likely to conduct research on a given rare disease if they find a patient registry in place. By defining a population of patients, registries enable the formation of various types of research, educational, and outcomes improvement infrastructures.


In the GRDR patient registry model, patients register themselves on the registry website, answer a questionnaire regarding their medical history and attach electronic versions of testing results to their account. A registry may have a coordinator who verifies the patient submitted information. In this model, information is tracked longitudinally and email reminders are sent to participants missing testing results or with out-of-date accounts.

How Can Registry Data Be Used?

Registries support various types of research, education, and outcomes improvement initiatives, including:

• Learn among the community
• Knowledge dissemination
• Encourage research and plan trials
• Recruit patients
• Understand the disease
• Evaluate effectiveness
• Safety monitoring
• Quality and outcomes improvement – treatment, practice, surveillance/monitoring
• Genotype/phenotype associations
• Hub to link other registries, repositories and data sources

These varied uses of registry data are made possible by the infrastructure available to the GRDR registry which supports unlimited ‘roles’ of users. Researchers and clinical investigators may register on the site for access to de-identified data, best practices and other information generated as part of this program. Patients may register as participants to contribute their data and learn from others. Protecting privacy of participants is of the upmost importance to the GRDR registry program. No identifying patient information is released outside the registry without the stated permission of the participant.

Good News for the Rare Disease Community

This morning I received a news release from NORD.  This is good news for those of us living with Kennedy’s Disease.  When a treatment is discovered, we would hate to see something that works tied up in ‘red-tape’ (a long approval process).

The last two paragraphs of this news release summarize the findings and reason for the study.

  

LANDMARK NORD STUDY CONCLUDES FDA IS FLEXIBLE IN REVIEWING THERAPIES FOR RARE DISEASES

Study Catalogues Flexibility in Orphan Drugs Approved Since 1983

Washington DC, October 11, 2011 - “The National Organization for Rare Disorders (NORD) today released a landmark report documenting flexibility in the Food and Drug Administration (FDA) review of potential treatments for patients with rare diseases.

Released at the U.S. Conference on Rare Diseases and Orphan Products, the report examined the basis for FDA’s approval of 135 non-cancer “orphan drugs” … those for rare diseases since the Orphan Drug Act was enacted in 1983 to provide incentives to encourage development of treatments for rare diseases.
This is the first study of its kind ever conducted and the first time that there has been a systematic

examination of the basis for approval for any category of drug products extending over such a long period of time.  The study demonstrates a decades-long pattern of flexibility in FDA review of orphan drugs.

Frank J. Sasinowski, chairman of the NORD board of directors and author of the report, said: “We wanted to determine whether FDA requires that orphan drug applications provide the conventional effectiveness data that are ordinarily expected for most drugs for more prevalent diseases, or whether the agency has over the years exercised flexibility in approving drugs for patients with rare diseases.  This issue is critical to the patients and families NORD serves because the patient population available for testing of orphan drugs is, by definition, more limited than for drugs for more prevalent diseases.”

NORD President and CEO Peter L. Saltonstall said: “We are gratified that this extensive study, spearheaded by NORD on behalf of the entire rare disease community, found that there is supportable evidence to document flexibility by FDA medical reviewers.  This study should provide an extra level of confidence for investigators, companies and investors who are considering developing new drugs for rare diseases.”

While any disease affecting fewer than 200,000 Americans is defined by law as “rare,” many rare diseases affect only a few hundred or a few dozen people.  Conducting the clinical studies required to develop treatments for these diseases poses special challenges to medical researchers, the report pointed out.

The NORD study looked at all drugs for diseases other than cancer approved as orphans since 1983 to identify when flexibility was employed in the review process.  The evaluation process distinguishes between flexibility applied as a result of a previously described FDA system, such as the accelerated approval program, or on a case-by-case basis.

For each of the non-cancer drugs approved as orphans since 1983, NORD sought to access the FDA approval letter, the labeling at the time of approval, the decision memoranda of the FDA officials who approved the products, and the reviews of the medical and statistical officers.  While such documents were retrievable in most cases, only subsets of those documents were recoverable for some drugs, especially for some of the earliest approved orphan therapies.

The drugs were then divided into three categories: those that, in NORD’s judgment, would have met the traditional data requirements for effectiveness; those whose approval was based on flexibility applied as a result of some documented FDA system for flexibility; and those whose approval appeared to reflect case-by-case flexibility.

Of the 135 drug approvals studied, NORD concluded that 45 would have met traditional data requirements, 32 reflected “administrative flexibility” based on a previously documented FDA system, and 58 reflected flexibility applied on a case-by-case basis.

“This review of FDA actions concludes that two of every three orphan drugs approved show FDA’s historic flexibility in its review of effectiveness data on orphan drug therapies, ” Sasinowski said.  “Therefore, FDA has demonstrated in its actions on orphan products that it recognizes the importance of therapies for persons with rare disorders.  It would be helpful for such flexibility and importance to be recognized in a formal FDA policy, and for FDA officials to incorporate and recognize that flexibility in a systematic way in their evaluations of each new therapy in development and under FDA review for Americans with any rare disease.”

Saltonstall added that NORD undertook this study because, of the nearly 7,000 known rare diseases, only about 200 have FDA-approved treatments. “Better understanding the regulatory process and the pathways most likely to lead to increased study of rare diseases and safe, effective treatments for patients is very important to us,” he said.

Rare Disorders - Raising public awareness

A special insert in the Washington Post this week highlighted rare diseases, the need for more treatments, and the challenges of having a rare disease.  Below are two of several good articles that appeared in the Post.  If you want to see the entire insert, send the KDA an email (info@kennedysdisease.org) and I will forward you the PDF document.



According  to the National  Institutes  of  Health  (NIH),  there  are nearly  7,000 diseases defined as rare, or affecting  fewer than  200,000  Americans by U.S. definition.  

Somebody  you  know  has one  of  these  diseases,  and  the patients and families coping with them  need  our  help.  They  live with  day-to-day  challenges  that are  vastly  underserved  at  this time  by  our  medical  and  public health systems. 

This results in shattered dreams,  unnecessary  expense,  lost  productivity,  and  all  too  often,  premature death.

 

What are the challenges?

 

Even  though  each  disease  is unique, the problems associated with having a rare disease tend to be consistent. They include:

• Delayed or inaccurate diagnosis
• Difficulty finding a medical expert
• Too little research
• Few, if any, treatment options
• Insurance  or  other  reimbursement problems
• Lack of awareness and understanding of the patient’s needs
• A sense of isolation.

Rare  diseases  are  often  called  “orphans”  because  they  are  forgotten  and  “unclaimed.”  Many  rare  diseases  are  not  being  studied  by  any  researchers  because  there  is  little  or  no  public  funding  for research.

In  fact,  much  of  the  research on  rare  diseases  today  is  being funded  by  patients,  families, and  patient  organizations  raising money through golf tournaments,  bake  sales,  and  other  means  to provide grants for researchers at universities and hospitals.

Seek Treatment

 

Only  about  200  rare  diseases  currently  have  treatments  approved  by  the U.S. Food and Drug Administration (FDA). That leaves many patients  and  their  families  in  the  position  of being treated with products not specifically approved for their disease or  not being treated at all. 

Furthermore,  more  than  half  of  the patients are children. The organization  I  represent—the  National  Organization  for  Rare  Disorders  (NORD)—receives phone calls and  emails on a daily basis from parents  who are coping simultaneously with  the  challenges  of  having  a  desperately sick child, appealing insurance denials, finding appropriate medical  care,  and  educating  their  families  and   friends  about  their child’s disease.  It’s  a  lot  to  deal  with,  and  no  one should have to do it alone.

Just by becoming more aware of  rare diseases and the needs of the  children and adults who have them,  you  can  help.  The  word  “rare”  is  misleading.  These  diseases  touch  lives all around us, and as a society  we need to pay more attention.  It  could  be  your  son  or  daughter,  or  your  elderly  parent,  who  is  affected. 

If we all focus a little more  on these issues, we could improve millions  of  lives,  reduce  unnecessary  healthcare  spending,  and  put meaning  in  the  phrase:  Alone  we  are rare. Together we are strong.

Peter  L .  Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)

 

Mothers lead the way in researching rare disorders

 

Few  medical   conditions a re as difficult  to  diagnose  as  rare  disorders. Many patients wait seven to  10  years  before  receiving  a correct  diagnosis,  and  when  the disease is finally given a name, 
the  person  behind  that  diagnosis  is  often  a  mom.  Why? 

• First, 80  percent of all rare disorders including  cystic  fibrosis,  childhood  cancers,  and  numerous unnamed  diseases  are  diagnosed  during  early  childhood. 
• Second,  physicians  receive  little medical training in rare disorders and  can  spend  an  entire  career without  ever  encountering  one. 
• Third,  and  most  importantly,  is the strength of a mother’s instinct  to  protect  her  young  –  she  is  literally  fighting  for  her  children’s lives.  Empowered  by  the  inter-net, these mothers research and network  with  unmatched  skill.

“The  Internet  gives  patients  and  caregivers  access  to  medical journals , clinical trial investigators,  advocacy  organizations and  government  officials.”  Additionally, mothers employ the  use of social media for sharing news,  experiences  and  resources.

“Having support and encouragement  right  at  their  fingertips  can transform  a  family’s  solo  ordeal into  a  shared  journey;  stripping away  feelings  of  isolation  and bolstering  their  faith  and  determination.”  A  simple  click  of  a  mouse  can  make  a  world of difference. 

Wendy White 
Founder and President, Siren Interactive