CIRM-Funded UC-Irvine Team Set to Launch Stem Cell Trial for Retinitis Pigmentosa in 2015

Rosalinda Barrero has often been mistaken for a rude snob. She has the habit of not saying hello or even acknowledging the presence of acquaintances that she passes around town. But in fact this kind, loving mom of three has been steadily losing her vision over a lifetime. And she doesn’t seem blind because people are still vaguely visible as shadowy ghosts but their faces are unrecognizable.

RosalindaBarrero_blog

Rosalinda Barrero is legally blind due to retinitis pigmentosa. She eagerly awaits the launch of a CIRM-funded trial that will test a candidate stem cell-based treatment.

Barrero is stricken with retinitis pigmentosa (RP) an incurable genetic disease that gradually destroys the light sensing nerve cells, called photoreceptors, located in the retina at the back of the eye. In October, Rosalinda and her husband German spoke to the CIRM governing Board about the devastating impact of RP on their lives and their excitement about a soon to begin CIRM-funded stem cell-based clinical trial for the treatment of RP. The project is headed by UC-Irvine associate professor Henry Klassen, MD, PhD, who also spoke to the Board. Videos of their presentations are now available on our website and below:

Over 3000 known genetic mutations can give rise to RP. These mutations lead to the gradual deterioration of the so-called rod photoreceptors. These rod cells specifically provide our night vision — like on a moonless night. Rosalinda clearly remembers her childhood struggles with night blindness on Halloween:

“I didn’t like trick-or-treating because I couldn’t see in the dark. I ‘d say ‘this is not fun! I’m tripping! I’m losing all my candy!’ I wanted to stay home and hand out candy”

Unfortunately the disease doesn’t stop there. As the rods continue to die off another type of photoreceptor, the cone cells, become innocent bystanders and also gradually deteriorate later in life. As Dr. Klassen explained, it’s the cone cells that are critical for our sight:

“The cones are what humans use for almost all of their vision. Even at night when you’re driving a car with headlights you’re using mainly your cones. So if we could preserve the cones we can really help the patient.”

With the support of a $17 million CIRM Disease Team grant, Klassen and his team anticipates starting a stem-call based clinical trial in early 2015 with the ultimate aim of healing those cone cells in RP patients. The therapy uses a type of immature stem cell of the retina called retinal progenitor cells. The proposed approach relies on the injection of the cells into the jelly of the eye near the retina to promote indirect healing. Klassen explained the project rationale to the Board:

“So we’re talking about little clusters of cells that could fit on the head of a pin in the jelly of the eye and they’re just floating there. And what are they going to do? Well they just sit there and secrete all the factors they normally secrete during retinal development and diffuse into the retina. Once in the retina we believe [based on animal studies] those factors are going to reprogram the photoreceptors into becoming functional again instead of going down that road where they’re going to commit suicide.”

Rosalinda is beyond thrilled with the prospect of being a recipient of this candidate therapy. Her husband German echoed her hopefulness to the Board:

“Even though it’s not a deadly disease, [the therapy] would be life-changing not only for Rosie it would be for everyone around her. “

To learn more about CIRM-funded research related to blindness, visit our fact sheet.

December ICOC Board Meeting to Begin Soon

The December ICOC Board Meeting begins this morning in Berkeley, CA.

The complete agenda can be found here. Dude to inclement weather our Spotlight on Disease has been canceled.

For those not able to attend, you are welcome to dial in:

To join the event as an attendee
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To access the live event or archive, use this URL:

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Enter Conference ID# 346314

[Members of the Public will be invited to provide testimony before or during consideration of each item. Makers of public comments are asked to limit their testimony to three (3) minutes.]

How partnering with someone half way around the world could help develop new treatments here in California

Much as we love California, and we really do, even we have to admit that genius knows no boundaries and that great scientific research is taking place all over the world. As our goal as an agency is to accelerate the development of successful therapies for people in need it only makes sense that we would try and tap into that genius, wherever it is, in whatever way we can. That’s where our Collaborative Funding Partnership (CFP) program comes in.

Michel Hivert, Executive Director at MATIMOP (L) and ICOC Chairman Jonathan Thomas

Michel Hivert, Executive Director at MATIMOP (L) and ICOC Chairman Jonathan Thomas

Under Proposition 71, the voter-approved initiative that created the stem cell agency, all the research we fund has to be in California. But that doesn’t mean we can’t help create collaborations between researchers here – that we fund – and researchers in other parts of the world who get funding from other sources. And we do just that. In fact we now have 24 CFPs stretching from New York state to Brazil, Japan, the UK and Australia.

And now we have added two more. One with Poland two weeks ago  and today, with Israel. As the Chair of our governing Board, Jonathan Thomas said in a news release , the goal of these agreements is simple, to advance stem cell research around the world:

“Israel has long had a robust stem cell research community. Through this newly announced collaboration, we hope to generate partnerships between Israeli and California scientists that build on our complementary strengths and generate joint research projects that will benefit patients everywhere.”

Dr. Andy David, Consul General of Israel to the Pacific North West, echoed those sentiments:

“It represents a practical expression of shared interests that is unusual for its depth and range. Israel and California are on opposite corners of the globe geographically, but they are practically coming closer every day. The reason for this thriving relationship is the understanding that we are strong mutual assets.”

But nice as these partnerships are the only questions that really matter are do these collaborations really make a difference; do they really help increase the likelihood of a successful therapy? The answer from our experience is yes. For example, a team we are funding at Stanford is collaborating with a team from the Medical Research Council in the UK, focused on solid tumor cancers. The Stanford team has been given approval by the Food and Drug Administration (FDA) to run a clinical trial testing this approach on solid tumors, while the UK team is using the same approach to tackling acute myeloid leukemia (AML) an often-fatal cancer of the blood and bone marrow. Knowledge gained from one trial may well benefit the other and could ultimately lead to approaches to treating other solid tumor cancers such as breast, ovarian, bladder and colon.

Disease does not stop at the border and we see no reason for our engagement with the best science, and the best scientists, to stop there either. Our goal is to find cures, and we’ll go wherever we have to and work with whoever we can to meet that goal.

 

 

 

 

Taking Promising Therapies out of the Lab and into People: Tips from Experts at the World Stem Cell Summit on How to Succeed

Having a great idea for a stem cell therapy is the easy part. Getting it to work in the lab is tougher. But sometimes the toughest part of all is getting it out of the lab and into clinical trials in patients. That’s natural and sensible, after all we need to make sure that something seems safe before even trying it in people. But how do you overcome all the challenges you face along the way? That was the topic of one of the panel discussions at the World Stem Cell Summit in San Antonio, Texas.

Rick Blume is the Managing Director at Excel Venture Management, and someone with decades of experience in investing in healthcare companies. He says researchers face numerous hurdles in trying to move even the most promising therapies through the approval and regulatory process, only some of which are medical. Blume says:

“Great ideas can become great companies. And good Venture Capitalists (VCs) can help with that process, but the researchers have to overcome technical, funding and logistical hurdles before VCs are usually ready to move in and help.”

Of course that’s where agencies and organizations like CIRM come in. We help fund the early stage research, helping researchers overcome those hurdles and getting promising therapies to a point where VCs and other large investors are willing to step in.

Left to right: Geoff Crouse CEO of Cord Blood Registry, C. Randal Mills, President and CEO of CIRM, Rick Blume of Excel Venture Management and Anthony Atala of Wake Forest University Medical Center

Left to right: Geoff Crouse CEO of Cord Blood Registry, C. Randal Mills, President and CEO of CIRM, Rick Blume of Excel Venture Management and Anthony Atala of Wake Forest University Medical Center

Geoff Crouse, the CEO of the Cord Blood Registry, says researchers need to be increasingly imaginative when looking for funding these days.

“While Federal funding for this kind of research is drying up, there are alternatives such as CIRM and philanthropic investors who are not just seeking to make active investments but are also trying to change the world, so they offer alternatives to more traditional sources of funding. You have to look broadly at your funding opportunities and see what you want to do.”

C. Randal Mills, the President and CEO of CIRM said too many people get caught up looking at the number of challenges that any project faces when it starts out:

“The single most important thing that you need to do is to show that the treatment works in people with unmet medical needs, that it is safe. If you can do that, all the other problems, the cost of the therapy, how to market it, how to get reimbursed for it, those will all be resolved in time. But first you have to make it work, then you can make it work better and more efficiently.”

The panel all agreed that one of the areas that needs attention is the approval and regulatory process saying the Food and Drug Administration (FDA) the regulatory body governing this field, needs to adjust its basic “one size fits all” paradigm.”

Mills says the FDA is in a difficult position:

“Everyone wants three things; they want fast drugs, they want cheap drugs and they want perfect drugs. The problem is you can’t have all three. You can have two but not all three and that puts the FDA into an almost impossible position because if therapies aren’t approved quickly they are criticized but if they are approved and later show problems then the FDA is criticized again.”

Often the easiest way to get a traditional drug therapy approved for use is to ask for a “humanitarian exemption”, particularly for an orphan disease that has a relatively small number of people suffering from it and no alternative therapies. But when it comes to more complex products knows as biologics, which includes stem cell therapies, this humanitarian exemption does not exist making approval much harder to obtain, slowing down the field.

Mills says other countries, such as Japan, have made adjustments to the way they regulate new therapies such as stem cells and he hopes the FDA will learn from that and make similar modifications to the way they see these therapies.

All three panelists were optimistic that the field is making good progress, and will continue to advance. Good news for the many patient advocates attending the World Stem Cell Summit who are waiting for treatments for themselves or loved ones.

At World Stem Cell Summit: Why results in trials repairing hearts are so uneven

Just as no two people are the same, neither are the cells in their bone marrow, the most common source of stem cells in clinical trials trying to repair damage after a heart attack. Doris Taylor of the Texas Heart Institute in Houston, which is just a couple hours drive from the site of this year’s World Stem Cell Summit in San Antonio, gave a key note address this morning that offered some good reasons for the variable and often disappointing results in those trials, as well as some ways to improve on those results.

THI's Dr. Doris Taylor

THI’s Dr. Doris Taylor

The cells given in a transplant derived from the patient’s own bone marrow contain just a few percent stem cells and a mix of adult cells, but for both the stem and adult cells the mix is highly variable. Taylor said that in essence we are giving each patient a different drug. She discussed a series of early clinical trials in which cell samples from each patient were banked at the National Heart and Lung and Blood Institute. There they could do genetic and other analysis on the cells and compare that data with how each individual patient faired.

In looking at the few patients in each trial that did better on any one of three measures of improved heart function, they were indeed able to find certain markers that predicted better outcome. In particular they looked at “triple responders,” those who improved in all three measures of heart function. They found there were both certain types of adult cells and certain types of stem cells that seemed to result in improved heart health.

They also found that two of the strongest predictors were gender and age. Women generally develop degenerative diseases of aging like heart disease at an older age than men and since many consider aging to be a failure of our adult stem cells, it would make sense that women have healthier stem cells.

Taylor went on to discuss ways to use this knowledge to improve therapy outcomes. One way would be to select for the more potent cells identified in the NHLBI analysis. She mentioned a couple trials that did show better outcomes using cells derived from heart tissue. One of those is work that CIRM funds at Cedars-Sinai in Los Angeles.

Another option is replace the whole heart and she closed with a review of what is probably her best-known work, trying to just that. In rats and pigs, she has taken donor hearts and used soap-like solutions to wash away the living cells so that all that is left behind are the proteins and sugars that make of the matrix between cells. She then repopulates the scaffolds that still have the outlines of the chambers of the heart and the blood vessels that feed them, with cells from the recipient animal. She has achieved partially functional organs but not fully functional ones. She—along with other teams around the world—is working on the remaining hurdles to get a heart suitable for transplant.

Don Gibbons

CIRM-Funded Scripps Team Replicates Pain in a Lab Dish; Seeks New Treatments for Chronic Sufferers

Pain hurts but it also protects. Thanks to nerve cells called sensory neurons, which weave their nerve fibers throughout our skin and other tissues, we are alerted to dangerous events like touching a hot plate or even to the sense of having a full bladder.

However, trauma such as a spinal cord injury or diseases like HIV and diabetes can damage sensory neurons and cause chronic pain that debilitates rather than protects those affected. Sadly, conventional pain treatments are usually not effective for the stinging, burning, tingling and numbness associated with this type of pain. Clearly, new innovations are needed.

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These induced sensory neurons could be useful in the testing of potential new therapies for pain, itch and related conditions. Credit: Baldwin Lab, The Scripps Research Institute

Last week, a CIRM-funded research team from The Scripps Research Institute, reported in Nature Neuroscience that they developed a technique, which induces human skin cells to transform into sensory neurons in a petri dish. Up until now, the field mostly relied on mouse studies due to the difficulty of collecting and growing human sensory neurons in the lab. This may explain the lack of success in clinical trials for treating chronic pain. As co-lead author Joel Blanchard, a PhD candidate in Kristin Baldwin’s laboratory, stated in the institute’s press release:

“Mouse models don’t represent the full diversity of the human response. [With these human sensory neurons] we can start to understand how individuals respond uniquely to pain, cold, itch and so on.”

Kevin Eade, research associate, and Joel Blanchard, graduate student, co-lead authors of the report  Credit: Cindy Brauer, The Scripps Research Institute

Kevin Eade, research associate, and Joel Blanchard, graduate student, co-lead authors of the report. Credit: Cindy Brauer, The Scripps Research Institute

To generate the nerve cells, the Baldwin research team inserted, into human skin cells, a combination of genes known to produce proteins that are key controllers of sensory neuron function. The resulting cells had the appearance of sensory neurons and responded appropriately when exposed to heat in the form of the active ingredient in chili peppers as well as activating a cold response when exposed to menthol. Adding more confidence to these results, an independent research team from the Harvard Stem Cell Institute reported in the same Nature Neuroscience   issue and in a press release that they too had successfully generated human sensory neurons from skin cells.

This direct reprogramming of one cell type directly into another is a variant of the induced pluripotent stem cell (iPS) technique in which a cell, often skin, is first reprogrammed into an embryonic stem cell-like state and then coaxed to form into virtually any cell type of the body.

Now that the Baldwin lab has nailed down the recipe for making human sensory neurons, they now can seek out treatments to bring relief to chronic pain sufferers. Dr. Baldwin looks forward to this future work:

Kristin Baldwin, Associate Professor Department of Molecular and Cellular Neuroscience. Credit: The Scripps Research Institute

Kristin Baldwin
Associate Professor
Credit: The Scripps Research Institute

“This method is rapid, robust and scalable. Therefore we hope that these induced sensory neurons will allow our group and others to identify new compounds that block pain and itch and to better understand and treat neurodegenerative disease and spinal cord injury.”

Watch the short video below to hear from a pioneer of direct reprogramming of nerve cells, CIRM grantee Marius Wernig of Stanford University:

Searching for a Cure for HIV/AIDS: Stem Cells and World AIDS Day

World-AIDS-Day

It’s been 26 years since the first World AIDS Day was held in 1988—and the progress that the international scientific community has made towards eradicating the disease has been unparalleled. But there is much more work to be done.

One of the most promising areas of HIV/AIDS research has been in the field of regenerative medicine. As you observe World AIDS Day today, we invite you to take a look at some recent advances from CIRM-funded scientists and programs that are well on their way to finding ways to slow, halt and prevent the spread of HIV/AIDS:

Calimmune’s stem cell gene modification study continues to enroll patients, show promise:
Calimmune Approved to Treat Second Group in HIV Stem Cell Gene Modification Study

Is a cure for HIV/AIDS possible? Last year’s public forum discusses the latest on HIV cure research:


Town Hall: HIV Cure Research

The Stem Cell Agency’s HIV/AIDS Fact Sheet summarizes the latest advances in regenerative medicine to slow the spread of the disease.

And for more on World AIDS Day, follow #WorldAIDSDay on Twitter and visit WorldAIDSDay.org.

Taking stock: ten years of the stem cell agency, progress and promise for the future

Under some circumstances ten years can seem like a lifetime. But when lives are at stake, ten years can fly by in a flash.

Ten years ago the people of California created the stem cell agency when they overwhelmingly approved Proposition 71, giving us $3 billion to fund and support stem cell research in the state.

In 2004 stem cell science held enormous potential but the field was still quite young. Back then the biology of the cells was not well understood, and our ability to convert stem cells into other cell types for potential therapies was limited. Today, less than 8 years after we actually started funding research, we have ten projects that are expected to be approved for clinical trials by the end of the year, including work in heart disease and cancer, HIV/AIDS and diabetes. So clearly great progress has been made.

Dean Carmen Puliafito and the panel at the Tenth Anniversary event at USC

Dean Carmen Puliafito and the panel at the Tenth Anniversary event at USC

Yesterday we held an event at the University of Southern California (USC) to mark those ten years, to chart where we have come from, and to look to where we are going. It was a gathering of all those who have, as they say, skin in the game: researchers, patients and patient advocates.

The event was held at the Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research. As Dr. Carmen Puliafito, Dean of USC’s Keck School of Medicine noted, without CIRM the building would not even exist.

“With this funding, our researchers, and researchers in 11 other facilities throughout the state, gained a dedicated space to hunt for cures for some of the most pernicious diseases in the world, including heart disease, stroke, cancer, diabetes, Alzheimer’s and Parkinson’s disease.”

Dr. Dhruv Sareen from Cedars-Sinai praised CIRM for creating a whole new industry in the state:

“What Silicon Valley has done for technology, CIRM is doing for stem cell research in California.”

One of the beneficiaries of that new industry has been ViaCyte, a San Diego-based company that is now in clinical trials with a small implantable device containing stem cell-derived cells to treat type 1 diabetes. ViaCyte’s Dr. Eugene Brandon said without CIRM none of that would have been possible.

“In 2008 it was extremely hard for a small biotech company to get funding for the kind of work we were doing. Without that support, without that funding from CIRM, I don’t know where this work would be today.”

As with everything we do, at the heart of it are the patients. Fred Lesikar says when he had a massive heart attack and woke up in the hospital his nurse told him about a measure they use to determine the scale of the attack. When he asked how big his attack had been, she replied, “I’ve never seen numbers that large before. Ever.”

Fred told of leaving the hospital a diminished person, unable to do most basic things because his heart had been so badly damaged. But after getting a stem cell-based therapy using his own heart cells he is now as active as ever, something he says doesn’t just affect him.

“It’s not just patients who benefit from these treatments, families do too. It changes the life of the patient, and the lives of all those around them. I feel like I’m back to normal and I’m so grateful for CIRM and Cedars-Sinai for helping me get here.”

The team behind that approach, based at Cedars-Sinai, is now in a much larger clinical trial and we are funding it.

The last word in the event was left to Bob Klein, who led the drive to get Proposition 71 passed and who was the agency’s first Chair. He said looking at what has happened in the last ten years: “it is beyond what I could have imagined.”

Bob noted that the field has not been without its challenges and problems to overcome, and that more challenges and problems almost certainly lie in the future:

“But the genius of the people of this state is reflected in their commitment to this cause, and we should all be eternally grateful for their vision in supporting research that will save and transform people’s lives.”

10 Years/10 Therapies: 10 Years after its Founding CIRM will have 10 Therapies Approved for Clinical Trials

In 2004, when 59 percent of California voters approved the creation of CIRM, our state embarked on an unprecedented experiment: providing concentrated funding to a new, promising area of research. The goal: accelerate the process of getting therapies to patients, especially those with unmet medical needs.

Having 10 potential treatments expected to be approved for clinical trials by the end of this year is no small feat. Indeed, it is viewed by many in the industry as a clear acceleration of the normal pace of discovery. Here are our first 10 treatments to be approved for testing in patients.

HIV/AIDS. The company Calimmune is genetically modifying patients’ own blood-forming stem cells so that they can produce immune cells—the ones normally destroyed by the virus—that cannot be infected by the virus. It is hoped this will allow the patients to clear their systems of the virus, effectively curing the disease.

Spinal cord injury patient advocate Katie Sharify is optimistic about the latest clinical trial led by Asterias Biotherapeutics.

Spinal cord injury patient advocate Katie Sharify is optimistic about the clinical trial led by Asterias Biotherapeutics.

Spinal Cord Injury. The company Asterias Biotherapeutics uses cells derived from embryonic stem cells to heal the spinal cord at the site of injury. They mature the stem cells into cells called oligodendrocyte precursor cells that are injected at the site of injury where it is hoped they can repair the insulating layer, called myelin, that normally protects the nerves in the spinal cord.

Heart Disease. The company Capricor is using donor cells derived from heart stem cells to treat patients developing heart failure after a heart attack. In early studies the cells appear to reduce scar tissue, promote blood vessel growth and improve heart function.

Solid Tumors. A team at the University of California, Los Angeles, has developed a drug that seeks out and destroys cancer stem cells, which are considered by many to be the reason cancers resist treatment and recur. It is believed that eliminating the cancer stem cells may lead to long-term cures.

Leukemia. A team at the University of California, San Diego, is using a protein called an antibody to target cancer stem cells. The antibody senses and attaches to a protein on the surface of cancer stem cells. That disables the protein, which slows the growth of the leukemia and makes it more vulnerable to other anti-cancer drugs.

Sickle Cell Anemia. A team at the University of California, Los Angeles, is genetically modifying a patient’s own blood stem cells so they will produce a correct version of hemoglobin, the oxygen carrying protein that is mutated in these patients, which causes an abnormal sickle-like shape to the red blood cells. These misshapen cells lead to dangerous blood clots and debilitating pain The genetically modified stem cells will be given back to the patient to create a new sickle cell-free blood supply.

Solid Tumors. A team at Stanford University is using a molecule known as an antibody to target cancer stem cells. This antibody can recognize a protein the cancer stem cells carry on their cell surface. The cancer cells use that protein to evade the component of our immune system that routinely destroys tumors. By disabling this protein the team hopes to empower the body’s own immune system to attack and destroy the cancer stem cells.

Diabetes. The company Viacyte is growing cells in a permeable pouch that when implanted under the skin can sense blood sugar and produce the levels of insulin needed to eliminate the symptoms of diabetes. They start with embryonic stem cells, mature them part way to becoming pancreas tissues and insert them into the permeable pouch. When transplanted in the patient, the cells fully develop into the cells needed for proper metabolism of sugar and restore it to a healthy level.

HIV/AIDS. A team at The City of Hope is genetically modifying patients’ own blood-forming stem cells so that they can produce immune cells—the ones normally destroyed by the virus—that cannot be infected by the virus. It is hoped this will allow the patients to clear their systems of the virus, effectively curing the disease

Blindness. A team at the University of Southern California is using cells derived from embryonic stem cell and a scaffold to replace cells damaged in Age-related Macular Degeneration (AMD), the leading cause of blindness in the elderly. The therapy starts with embryonic stem cells that have been matured into a type of cell lost in AMD and places them on a single layer synthetic scaffold. This sheet of cells is inserted surgically into the back of the eye to replace the damaged cells that are needed to maintain healthy photoreceptors in the retina.

UCLA team cures infants of often-fatal “bubble baby” disease by inserting gene in their stem cells; sickle cell disease is next target

Poopy diapers, ear-splitting cries, and sleepless nights: sure, the first few weeks of parenthood are grueling but those other moments of cuddling and kissing your little baby are pure bliss.

The bubble boy.  Born in 1971 with SCID, David Vetter lived in a sterile bubble to avoid outside germs that could kill him. He died in 1984 at 12 due to complications from a bone marrow transplant. [Credit: Baylor College of Medicine Archives]

The bubble boy. Born in 1971 with SCID, David Vetter lived in a sterile bubble to avoid outside germs that could kill him. He died in 1984 at 12 due to complications from a bone marrow transplant. [Credit: Baylor College of Medicine Archives]

That wasn’t the case for Alysia and Christian Padilla-Vacarro of Corona, California. Close contact with their infant daughter Evangelina, born in 2012, was off limits. She was diagnosed with a genetic disease that left her with no immune system and no ability to fight off infections so even a minor cold could kill her.

Evangelina was born with Severe Combined Immunodeficiency (SCID) also called “bubble baby” disease, a term coined in the 1970s when the only way to manage the disease was isolating the child in a super clean environment to avoid exposure to germs. Bone marrow transplants from a matched sibling offer a cure but many kids don’t have a match, which makes a transplant very risky. Sadly, many SCID infants die within the first year of life.

Until now, that is.

Today, a UCLA research team led by Donald Kohn, M.D., announced a stunning breakthrough cure that saved Evangelina’s life and all 18 children who have so far participated in the clinical trial. Kohn—the director of UCLA’s Human Gene Medicine Program—described the treatment strategy in a video interview with CIRM (watch the video below):

“We collect some of the baby’s own bone marrow, isolate the [blood] stem cells, add the gene that they’re missing that their immune system needs and then transplant the cells back to them. “

Inserting the missing gene, called ADA, into the blood stem cells restores the cells’ ability to produce a healthy immune system. And since the cells originally came from the infant, there’s no worry about the possible life-threatening complications from receiving non-matched donor cells.

This breakthrough didn’t occur overnight. Kohn and colleagues have been plugging away for over twenty years carrying out trials, observing their limitations and going back to lab to improve the technology. Their dedication has paid off. As Kohn states in a press release:

“All of the children with SCID that I have treated in these stem cell clinical trials would have died in a year or less without this gene therapy, instead they are all thriving with fully functioning immune systems.”

Alysia Padilla-Vacarro and daughter Evangelina on the day of her gene therapy treatment. Evangelina, now two years old, has had her immune system restored and lives a healthy and normal life. [Credit: UCLA Broad Center of Regenerative Medicine and Stem Cell Research.]

Alysia Padilla-Vacarro and daughter Evangelina on the day of her gene therapy treatment. Evangelina, now two years old, has had her immune system restored and lives a healthy and normal life. [Credit: UCLA Broad Center of Regenerative Medicine and Stem Cell Research.]

For the Padilla-Vacarro family, the dark days after Evangelina’s grave diagnosis have given way to a bright future. Alysia, Evangelina’s mom, poignantly recalled her daughter’s initial recovery:

”It was only around six weeks after the procedure when Dr. Kohn told us Evangelina can finally be taken outside. To finally kiss your child on the lips, to hold her, it’s impossible to describe what a gift that is. I gave birth to my daughter, but Dr. Kohn gave my baby life.”

The team’s next step is to get approval by the Food and Drug Administration (FDA) to provide this treatment to all SCID infants missing the ADA gene.

At the same time, Kohn and colleagues are adapting this treatment approach to cure sickle cell disease, a genetic disease that leads to sickle shaped red blood cells. These misshapen cells are prone to clumping causing debilitating pain, risk of stroke, organ damage and a shortened life span. CIRM is providing over $13 million in funding to support the UCLA team’s clinical trial set to start early next year.

For more information about CIRM-funded sickle cell disease research, visit our fact sheet.