California’s Stem Cell Agency Accelerates Treatments to Patients

The following article is an Op Ed that appeared in today’s print version of the San Francisco Chronicle

SanFranChronicle_Web

Biotechnology was born in California in the 1970s based on the discovery out of one of its universities and California is responsible for an industry that has impacted the lives of billions of people worldwide. In 2004, the voters of California approved Proposition 71, creating the California Institute for Regenerative Medicine and setting the state on the path to becoming a global leader in stem cell research. Today the therapies resulting from the institute’s work are not just changing lives, they are already saving lives.

Lives like Evie Vaccaro, who is alive today because of a treatment CIRM is funding. Vaccaro was born with SCID, also known as “bubble baby disease,” an immune disorder that often kills babies in their first two years. Vaccaro and dozens of other babies were given stem cell treatments thanks to the institute. All are showing improvement; some are now several years past treatment and considered cured.

An accident left Jake Javier from Danville paralyzed from the chest down on the eve of his high school graduation. Javier was treated in a CIRM-funded clinical trial. Today he has regained the use of his arms and hands, is driving a car and is a sophomore at Cal Poly San Luis Obispo. Five other patients treated at the same time as Javier have all experienced improvements meaning that instead of needing round-the-clock care, they can lead independent lives.

A study by the Tufts Center for the Study of Drug Development estimated it takes at least 10 years and $2.6 billion to develop one successful drug. In 14 years, and with just $3 billion, CIRM has funded 1,000 different projects, enrolled 900 patients, and supported 49 different clinical trials targeting diseases such as cancer, kidney failure and leukemia. Four of these programs have received an expedited designation by the U.S. Food and Drug Administration, meaning they could get faster approval to help more patients

We have created a network of world class medical clinics that have expertise in delivering treatments to patients. The CIRM Alpha Clinics offer treatments based on solid science, unlike the unlicensed clinics sprouting up around California that peddle unproven and potentially harmful therapies that cost patients thousands of dollars.

CIRM has:

  • Supported the creation of 12 stem-cell research facilities in California
  • Attracted hundreds of top-tier researchers to California
  • Trained a new generation of stem-cell scientists
  • Brought clinical trials to California — for example, one targeting ALS or Lou Gehrig’s disease
  • Deployed rigorous scientific standards and support so our programs have a “seal of approval” to attract $2.7 billion in additional investments from industry and other sources.

We recently have partnered with the National Institutes of Health to break down barriers and speed up the approval process to bring curative treatments to patients with Sickle Cell Disease.

Have we achieved all we wanted to? Of course not. The first decade of CIRM’s life was laying the groundwork, developing the knowledge and expertise and refining processes so that we can truly accelerate progress. As a leader in this burgeoning field of regenerative medicine, CIRM needs to continue its mission of accelerating stem-cell treatments to patients with unmet medical needs.

Dr. Maria T. Millan is President and CEO and Jonathan Thomas, JD, PhD, is the Board Chairman of the California Institute of Regenerative Medicine. 

 

 

A stepping stone for bringing stem cell therapy to patients with ALS

ALS Picture1

Imagine being told that you have a condition that gradually causes you to lose the ability to control your body movements, from picking up a pencil to walking to even breathing. Such is the reality for the nearly 6,000 people who are diagnosed with amyotrophic lateral sclerosis (ALS) every year, in the United States alone.

ALS, also known as Lou Gehrig’s disease, is a neurodegenerative disease that causes the degradation of motor neurons, or nerves that are responsible for all voluntary muscle movements, like the ones mentioned above. It is a truly devastating disease with a particularly poor prognosis of two to five years from the time of diagnosis to death. There are only two approved drugs for ALS and these do not stop it but only slow progression of the disease; and even then only for some patients, not all.

A ray of hope for such a bleak treatment landscape, has been the advent of stem cell therapy options over the past decade. Of particular excitement is the recent discovery made Nasser Aghdami’s group at the Royan Institute for Stem Cell Biology and Technology in Iran.

Two small Phase I clinical trials detailed in Cell Journal demonstrated that injecting mesenchymal stem cells (MSCs), derived from the patient’s own bone marrow, was safe when administered via injection into the bloodstream or the spinal cord. Previous studies had shown that MSCs both revived motor neurons and extended the lifespan in a rodent model of the disease.

In humans, many studies have shown that MSCs taken from bone marrow are safe for use in humans, but these studies have disagreed about whether injection via the bloodstream or spinal cord route is the most effective way to deliver the therapy. This report confirms that both routes of administration are safe as no adverse clinical events were observed for either group throughout the study time frame.

While an important stepping stone, there is still a long way to go. For example, while no adverse clinical events were observed in either group, the overall ALS-FRS score, a clinical scale to determine ALS disease progression, worsened in all patients over the course of the study. Whether this was just due to natural progression of the disease, or because of the stem cell treatment is difficult to determine given the small size of the cohort.

One reason the scientists suggest that could explain the disease decline is because the MSCs were taken from the ALS patients themselves, which means these cells were likely not functioning optimally prior to re-introduction into the patient. To remedy this, they hope to test the effect of MSCs taken from healthy donors in both injection routes in the future. They also need a larger cohort of patients to determine whether or not there is a difference in the therapeutic effect of administering stem cells via the two different routes.

While it may seem that the results from this clinical trial are not particularly groundbreaking or innovative, it is important to remember that these incremental improvements through clinical trials are critical for bringing safe and effective therapies to the market. For more information on the different phases of clinical trials, please refer to this video.

CIRM is also funding clinical trials targeting ALS. One is a Phase 1 trial out of Cedars-Sinai Medical Center and another is a Phase 3 trial with the company Brainstorm Cell Therapeutics.

What makes an expert an expert?

When we launched our Facebook Live “Ask the Expert” series earlier this year we wanted to create an opportunity for people to hear from and question experts about specific diseases or disorders. The experts we turned to were medical ones, neurologists and neuroscientists in the case of the first two Facebook Live events, stroke and ALS.

Then we learned about a blog post on the ALS Advocacy website questioning our use of the word “expert”. The author, Cathy Collet, points out that doctors or scientists are far from the only experts about these conditions, that there are many people who, by necessity, have become experts on a lot of issues relating to ALS and any other disease.

Cathy Collet ALS

 

Here’s Cathy’s blog. After you read it please let us know what you think: should we come up with a different title for the series, if so what would you suggest?

 

 

 

“Over the years I’ve experienced many “Ask the Experts” sessions related to ALS.  It’s always a panel of neuroscientists who talk a lot about ALS research and then take a few questions.

The “Expert” crown defaults to them.  They speak from the dais.  We get to listen a lot and ask.  They are by default “The Experts” in the fight against ALS.

But wait, there are all kinds of people with superb and valuable knowledge related to ALS –

  • There are people who know a lot about insurance.
  • There are people who know a lot about communication technology.
  • There are people who know a lot about low-tech hacks.
  • There are people who know a lot about suction machines.
  • There are people who know a lot about breathing.
  • There are people who know a lot about the FDA.
  • There are people who know a lot about moving a person on and off a commode.
  • There are people who know a lot about taxes.
  • There are people who know a lot about drugs.
  • There are people who know a lot about data.
  • There are people who know a lot about choking.
  • There are people who know a lot about financing research.
  • There are people who know a lot about stem cells.
  • There are people who know a lot about feeding tubes and nutrition.
  • There are people who know a lot about what’s important in living with the beast ALS.
  • There are people who know a lot about primary care in ALS.
  • There are people who know a lot about constipation.

Our default implication for the word experts being neuroscientists is revealing. There are many people in the fight against ALS, including those living with it, who know a lot.  We still live in a hierarchy where people with ALS and caregivers are at the bottom.

Words matter.  “Expert” is not a royal title to be owned by anyone by default.

It’s time for simple changes to some traditions.  “Ask the Neuroscientists,” anyone?

 

By the way, our next Facebook Live “Ask the ?” feature is targeting Sickle Cell Disease. It will be from noon till 1pm on Tuesday August 28th. More details, and maybe even a new name, to follow.

 

ALS is in the spotlight in CIRM’s “Ask the Expert About ALS & Stem Cells” Facebook Live event

The Catch

San Francisco 49ers Dwight Clark makes his iconic “Catch” against the Dallas Cowboys

American Football great Dwight Clark was renowned for having the safest hands in the game when he played for the San Francisco 49ers. But in September 2015 he was diagnosed with ALS (also known as Lou Gehrig’s disease) after not being able to use those hands to open a package of sugar. Less than three years later he was dead.

Amyotrophic lateral sclerosis – ALS’ formal title – is a nasty disease that relentlessly destroys the nerve cells in the brain and spinal cord that control movement and breathing. It is always fatal. There are only two drugs approved for ALS and they don’t work for most people. There is no cure.

AskExpertsALSJUL2018

That’s why CIRM chose ALS to be the subject of its latest Facebook Live Ask the Expert event (click here for the event’s FaceBook Live page). There’s a real need for new approaches to help people battling this deadly condition. And CIRM is funding two clinical trials that hope to do just that.

This Ask the Expert event will feature Clive Svendsen, PhD, Director of Cedars-Sinai’s Board of Governors Regenerative Medicine Institute, and Robert Baloh, MD, PhD, Director of Neuromuscular Medicine at Cedars-Sinai. They’ll be joined by Ralph Kern, MD, Chief Operating Officer and Chief Medical Officer at  BrainStorm Cell Therapeutics. The panel will be completed by CIRM Senior Science Officer Lila Collins.

The four will discuss the clinical trials that CIRM is funding with Cedars-Sinai and BrainStorm, and look at other promising research taking place.

Ask the Experts About ALS and Stem Cells is an opportunity for everyone in the ALS community to hear about the very latest in stem cell research targeting this devastating disease,” Svendsen said. “There has recently been some progress in the search for new treatments, which has energized all of us looking for effective therapies—and one day, a cure.”

Because Facebook Live is an interactive event people will be able to post comments and ask questions of the experts.

Dr. Baloh says we are now at a crucial time in the search for new approaches to help people with ALS.

“Many researchers believe that stem cells and gene therapies hold great promise for finding effective treatments, and more trials are needed to explore that potential.”

Our Facebook Live event, “Ask the Experts About ALS and Stem Cells” is tomorrow – Tuesday, July 31st – from noon till 1pm PST. You can join us by logging on to Facebook and going to the FaceBook Live broadcast link at: https://bit.ly/2uYQ8wM

Also, make sure to “like” our FaceBook page before the event to receive a notification when we’ve gone live for this and future events.

We want to hear from you, so you will be able to post questions in real-time for the experts to answer or, you can email them directly to us beforehand at info@cirm.ca.gov

If you miss the event, not to worry. A recording of the session will be available in our FaceBook videos page shortly after the broadcast ends.

We look forward to seeing you there.

 

Join us for our next installment of “Ask The Experts” on July 31st.

Screen Shot 2018-07-18 at 2.47.31 PM

Join us for our second installment of “Ask the Expert” at 12pm, PST on July 31st! This live interactive event will feature a conversation between Drs. Clive Svendsen, Robert Baloh from Cedars-Sinai, Dr. Ralph Kern, the Chief Operating Officer and Chief Medical Officer of Brainstorm Therapeutics, and CIRM Senior Science Officer Dr. Lila Collins.

In addition to the two clinical trials that CIRM is currently funding – one with Dr. Svendsen’s team and one with Brainstorm Therapeutics – they’ll also explore some of the biggest problems facing the field and where the research is heading. Dr. Ralph Kern, whois currently running a Phase 3 clinical trial for ALS we are funding, will also discuss his perspective on some of these problems as well.

This event is open to everyone and it can be accessed by simply logging onto our Facebook page at 12pm PST. We extend a special invitation to patients and the patient advocate community. Your voices and thoughts are important to us. You will be able to post comments and ask questions throughout the one-hour event, and we will do our best to get to as many of those as possible.

Like us on Facebook to get updates on this event, and others in the future at https://www.facebook.com/CaliforniaInstituteForRegenerativeMedicine/

 

 

Boosting immune system cells could offer a new approach to treating Lou Gehrig’s disease

ALS

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is one of those conditions that a lot of people know about but don’t know a lot about. If they are fortunate it will stay that way. ALS is a nasty neurodegenerative disease that attacks motor neurons, the cells in the brain and spinal cord that control muscle movement. As the disease progresses the individual loses their ability to walk, talk, eat, move and eventually to breathe. There are no effective treatments and no cure. But now research out of Texas is offering at least a glimmer of hope.

Dr. Stanley Appel, a neurologist at the Houston Methodist Neurological Institute noticed that many of the ALS patients he was treating had low levels of regulatory T cells, also known as Tregs. Tregs play a key role in our immune system, suppressing the action of molecules that cause inflammation and also helping prevent autoimmune disease.

In an article on Health News Digest Appel said:

Stanley Appel

Dr. Stanley Appel: Photo courtesy Australasian MND Symposium

“We found that many of our ALS patients not only had low levels of Tregs, but also that their Tregs were not functioning properly. We believed that improving the number and function of Tregs in these patients would affect how their disease progressed.”

And so that’s what he and his team did. They worked with M.D. Anderson Cancer Center’s Stem Cell Transplantation and Cellular Therapy program on a first-in-human clinical trial. They took blood from three people with different stages of ALS, separated the red and white blood cells, and returned the red blood cells to the patient. They then separated the Tregs from the white blood cells, increased their number in the lab, and then reinfused them into the patients, in a series of eight injections over the course of several months.

Their study, which appears in the journal Neurology,® Neuroimmunology & Neuroinflammation, found that the therapy appears to be safe without any serious side effects.

Jason Thonhoff, the lead author of the study, says the therapy also appeared to help slow the progression of the disease a little.

“A person has approximately 150 million Tregs circulating in their blood at any given time. Each dose of Tregs given to the patients in this study resulted in about a 30 to 40 percent increase over normal levels. Slowing of disease progression was observed during each round of four Treg infusions.”

Once the infusions stopped the disease progression resumed so clearly this is not a cure, but it does at least suggest that keeping Tregs at a healthy, high-functioning level may help slow down ALS.

CIRM is funding two clinical trials targeting ALS. One is a Phase 1 clinical trial with Clive Svendsen’s team at Cedars-Sinai Medical Center, the other is a Phase 3 project with Brainstorm Cell Therapeutics.

Stem Cell Roundup: Crafty Cancer, Fighting Viruses, and Brainstorm ALS Trial Expands to Canada

TGIF! Here is your weekly dose of stem cell news…

Shapeshifting cancer cells

This week’s awesome stem cell photo comes with a bizarre story and bonus video footage.

New research from Duke has found that some lung cancer cells with errors in transcription factors begin to resemble their nearest relatives – the cells of the stomach and gut. (Credit – Tata Lab, Duke University)

Researchers at Duke University were studying lung tumor samples and discovered something that didn’t quite belong. Inside the lung tumors were miniature parts of the digestive system including the stomach, duodenum and small intestine. It turns out that the lung cancer cells (and cancer cells in general) are super crafty and had turned off the expression of a gene called NKX2-1. This gene is a master switch that tells developing cells to turn into lung cells. Without this command, cells switch their identity and mature into gut tissue instead. By manipulating these master switches, cancer cells are able to develop resistance to chemotherapy and other cancer treatments.

So, what does this bizarre finding mean for cancer research? Purushothama Rao Tata, first author on the Developmental Cell study, provided an answer in a news release:

“Cancer biologists have long suspected that cancer cells could shape shift in order to evade chemotherapy and acquire resistance, but they didn’t know the mechanisms behind such plasticity. Now that we know what we are dealing with in these tumors – we can think ahead to the possible paths these cells might take and design therapies to block them.”

For more cool photos and insights into this study, watch the Duke Univeristy video below.


Secrets to the viral-fighting ability of stem cells uncovered (Todd Dubnicoff)

I’ve been writing about stem cells for many years and thought I knew most of the basic info about these amazing cells. But up until this week, I had no idea that stem cells are known to fight off viral infections much better than other cells. It does makes sense though. Stem cells give rise to and help maintain all the organs and tissues of the body. So, it would be bad news if, let’s say, a muscle stem cell multiplied to repair damaged tissue while carrying a dangerous virus.

How exactly stem cells fend off attacking viruses is a question that has eluded researchers for decades. But this week, results published in Cell by Rockefeller University scientists may provide an answer.

Stem cells lacking their protective genes are susceptible to infection by the dengue virus, in red. (Rockefeller University)

The researchers found that liver cells and stem cells defend themselves against viruses differently. In the presence of a virus, liver cells and most other cells react by releasing large amounts of interferon, a protein that acts as a distress signal to other cells in the vicinity. That signal activates hundreds of genes responsible for attracting protective immune cells to the site of infection.

Stem cells, however, are always in this state of emergency. Even in the absence of interferon, the antiviral genes were activated in stem cells. And when the stem cells were genetically engineering to lack some of the antiviral genes, the cells no longer could stop viral infection.

In a press release, senior author Charles Rice explained the importance of this work:

“By understanding more about this biology in stem cells, we may learn more about antiviral mechanisms in general.”


CIRM-funded clinical trial for ALS now available next door – in Canada (Kevin McCormack)

In kindergarten we are taught that it’s good to share. So, we are delighted that a Phase 3 clinical trial for ALS – also known as Lou Gehrig’s disease – that CIRM is helping fund is now expanding its reach across the border from the U.S. into Canada.

Brainstorm Cell Therapeutics, the company behind the therapy, says it is going to open a clinical trial site in Canada because so many Canadians have asked for it.

The therapy, as we described in a recent blog post, takes mesenchymal stem cells from the patient’s own bone marrow. Those cells are then modified in the lab to be able to churn out specific proteins that can help protect the brain cells attacked by ALS. The cells are then transplanted back into the patient and the hope is they will slow down, maybe even stop the progression of the disease.

Earlier studies showed the therapy was safe and seemed to benefit some patients. Now people with ALS across our northern border will get a chance to see if it really works.

Chaim Lebovits, the president and chief executive officer of BrainStorm, said in a press release:

“Although there are thousands of patients worldwide with ALS, we initially designed the Phase 3 trial to enroll U.S.-based patients only, primarily to make it easier for patient follow-up visits at the six U.S. clinical sites. However, due to an outpouring of inquiry and support from Canadian patients wanting to enroll in the trial, we filed an amendment with the FDA [the U.S. Food and Drug Administration] to allow Canada-based ALS patients to participate.”

We are happy to share.

Tiny blood vessels in the brain can spur the growth of spinal motor neurons

Last week, researchers from Cedars-Sinai Medical Center added a new piece to the complex puzzle of what causes neurodegenerative disorders like amyotrophic lateral sclerosis (ALS). The team discovered that the tiny blood vessels in our brains do more than provide nutrients to and remove waste products from our brain tissue. It turns out that these blood vessels can stimulate the growth of new nerve cells called spinal motor neurons, which directly connect to the muscles in our body and control how they move. The study, which was funded in part by a CIRM Discovery research-stage Inception award, was published in the journal Stem Cell Reports.

The Cedars team used a combination of human induced pluripotent stem cells (iPSCs) and organ-on-a-chip technology to model the cellular microenvironment of the spinal cord. They matured the iPSCs into both spinal motor progenitor cells and brain endothelial cells (which line the insides of blood vessels). These cells were transferred to an organ-chip where they were able to make direct contact and interact with each other.

Layers of spinal motor neuron cells (top, in blue) and capillary cells (bottom, in red) converge inside an Organ-Chip. Neurons and capillary cells interact together along the length of the chip. (Cedars-Sinai Board of Governors Regenerative Medicine Institute).

The researchers discovered that exposing the spinal motor progenitor cells to the blood vessel endothelial cells in these organ-chips activated the expression of genes that directed these progenitor cells to mature into spinal cord motor neurons.

Hundreds of spinal motor neurons spontaneously communicate through electrical signals inside an Organ-Chip. Neurons fire individually (flashing dots) and in synchronized bursts (bright waves). (Cedars-Sinai)

First author on the study, Samuel Sances, explained their findings in a news release:

“Until now, people thought these blood vessels just delivered nutrients and oxygen, removed waste and adjusted blood flow. We showed that beyond plumbing, they are genetically communicating with the neurons.”

The team also showed the power of stem cell-based organ-chip platforms for modeling diseases like ALS and answering key questions about why these diseases occur.

“What may go wrong in the spinal neurons that causes the motor neurons to die?” Sances asked. “If we can model an individual ALS patient’s tissues, we may be able to answer that question and one day rescue ALS patients’ neurons through new therapies.”

Clive Svendsen, a CIRM grantee and the senior author on the study, said that his team will conduct additional studies using organ-chip technology to study the interactions between iPSC-derived neurons and blood vessels of healthy individuals and ALS patients. Differences in these cellular interactions in diseased patient cells could offer new targets for developing ALS therapies.

The current study is a collaboration between Cedars and a Boston company called Emulate, Inc. Emulate developed the organ-chip technology and is collaborating with Svendsen at Cedars to not only model neurodegenerative diseases, but also model other organ systems. Be sure to check out our recent blog about their efforts to create a stem cell-based gut-on-a-chip, which they hope will pave the way for personalized treatments for patients with gastrointestinal diseases like Chrohn’s and inflammatory bowel disease.

Inspiring Video: UC Irvine Stem Cell Trial Gives Orange County Woman Hope in Her Fight Against ALS

Stephen Hawking

Last week, we lost one of our greatest, most influential scientific minds. Stephen Hawking, a famous British theoretical physicist and author of “A Brief History of Time: From the Big Bang to Black Holes”, passed away at the age of 76.

Hawking lived most of his adult life in a wheelchair because he suffered from amyotrophic lateral sclerosis (ALS). Also known as Lou Gehrig’s disease, ALS causes the degeneration of the nerve cells that control muscle movement.

When Hawking was diagnosed with ALS at the age of 21, he was told he only had three years to live. But Hawking defied the odds and went on to live a life that not only revolutionized our understanding of the cosmos, but also gave hope to other patients suffering from this devastating degenerative disease.

A Story of Hope

Speaking of hope, I’d like to share another story of an Orange County woman name Lisa Wittenberg who was recently diagnosed with ALS. Her story was featured this week on KTLA5 news and is also available on the UC Irvine Health website.

VIDEO: UCI Health stem cell trial helps Orange County woman fight neurodegenerative disease ALS. Click on image to view video in new window.

In this video, Lisa describes how quickly ALS changed her life. She was with her family sledding in the snow last winter, and only a year later, she is in a wheelchair unable to walk. Lisa got emotional when she talked about how painful it is for her to see her 13-year-old son watch her battle with this disease.

But there is hope for Lisa in the form of a stem cell clinical trial at the UC Irvine CIRM Alpha Stem Cell Clinic. Lisa enrolled in the Brainstorm study, a CIRM-funded phase 3 trial that’s testing a mesenchymal stem cell therapy called NurOwn. BrainStorm Cell Therapeutics, the company sponsoring this trial, is isolating mesenchymal stem cells from the patient’s own bone marrow. The stem cells are then cultured in the lab under conditions that convert them into biological factories secreting a variety of neurotrophic factors that help protect the nerve cells damaged by ALS. The modified stem cells are then transplanted back into the patient where they will hopefully slow the progression of the disease.

Dr. Namita Goyal, a neurologist at UC Irvine Health involved in the trial, explained in the KTLA5 video that they are hopeful this treatment will give patients more time, and optimistic that in some cases, it could improve some of their symptoms.

Don’t Give Up the Fight

The most powerful part of Lisa’s story to me was the end when she says,

“I think it’s amazing that I get to fight, but I want everybody to get to fight. Everybody with ALS should get to fight and should have hope.”

Not only is Lisa fighting by being in this ground-breaking trial, she is also participated in the Los Angeles marathon this past weekend, raising money for ALS research.

More patients like Lisa will get the chance to fight as more potential stem cell treatments and drugs enter clinical trials. Videos like the one in this blog are important for raising awareness about available clinical trials like the Brainstorm study, which, by the way, is still looking for more patients to enroll (contact information for this trial can be found on the clinicaltrials.gov website here). CIRM is also funding another stem cell trial for ALS at the Cedars-Sinai Medical Center. You can read more about this trial on our website.

Lisa’s powerful message of fighting ALS and having hope reminds me of one of Stephen Hawking’s most famous quotes, which I’ll leave you with:

“Remember to look up at the stars and not down at your feet. Try to make sense of what you see and wonder about what makes the Universe exist. Be curious. And however difficult life may seem, there is always something you can do and succeed at. It matters that you don’t just give up.”


Related Links:

Breaking the isolation of rare diseases

Rare disease day

Rare Disease Day in Sacramento, California

How can something that affects 30 million Americans, one in ten people in the US, be called rare? But that’s the case with people who have a rare disease. There are around 7,000 different diseases that are categorized as rare because they affect fewer than 200,000 people. Less than five percent of these diseases have a treatment.

That’s why last Wednesday, in cities across the US, members of the rare disease community gathered to call for more support, more research, and more help for families battling these diseases. Their slogan tells their story, ‘Alone we are rare; Together we are strong.’

At the Rare Disease Day rally in Sacramento, California, I met Kerry Rivas. Kerry’s son Donovan has a life-threatening condition called Shprintzen-Goldberg Syndrome. Talk about rare. There are only 70 documented cases of the syndrome worldwide. Just getting a diagnosis for Donovan took years.

DonovanDonovan suffers from a lot of problems but the most serious affect his heart, lungs and spinal cord. Getting him the care he needs is time consuming and expensive and has forced Kerry and her family to make some big sacrifices. Even so they work hard to try and see that Donovan is able to lead as normal a life as is possible.

While the disease Kerry’s son has is rarer than most, everyone at Rare Disease Day had a similar story, and an equal commitment to doing all they can to be an effective advocate. And their voices are being heard.

To honor the occasion the US Food and Drug Administration (FDA) announced it was partnering with the National Organization of Rare Diseases (NORD) to hold listening sessions involving patients and FDA medical reviewers.

In a news release Peter L. Saltonstall, President and CEO of NORD, said:

“These listening sessions will provide FDA review division staff with better insight into what is important to patients in managing their diseases and improving their quality of life. It is important for FDA to understand, from the patient perspective, disease burden, management of symptoms, daily impact on quality of life, and patients’ risk tolerance. Patients and caregivers bring a pragmatic, realistic perspective about what they are willing to deal with in terms of potential risks and benefits for new therapies.”

FDA Commissioner Dr. Scott Gottlieb said his agency is committed to doing everything possible to help the rare disease community:

“Despite our successes, there are still no treatments for the vast proportion of rare diseases or conditions. FDA is committed to do what we can to stimulate the development of more products by improving the consistency and efficiency of our reviews, streamlining our processes and supporting rare disease research.”

At CIRM we are also committed to doing all we can to help the cause. Many of the diseases we are currently funding in clinical trials are rare diseases like ALS or Lou Gehrig’s disease, SCID, spinal cord injury and sickle cell disease.

Many pharmaceutical companies are shy about funding research targeting these diseases because the number of patients involved is small, so the chances of recouping their investment or even making a profit is small.

At CIRM we don’t have to worry about those considerations. Our focus is solely on helping those in need. People like Donovan Rivas.