Last November Marissa Cors, a patient advocate in the fight against Sickle Cell Disease (SCD), told the Stem Cellar “A stem cell cure will end generations of guilt, suffering, pain and early death. It will give SCD families relief from the financial, emotional and spiritual burden of caring someone living with SCD. It will give all of us an opportunity to have a normal life. Go to school, go to work, live with confidence.” With each passing month it seems we are getting closer to that day.
CIRM is funding four clinical trials targeting SCD and another project we are supporting has just been given the green light by the Food and Drug Administration to start a clinical trial. Clearly progress is being made.
Yesterday we got a chance to see that progress. We held a Zoom event featuring Marissa Cors and other key figures in the fight against SCD, CIRM Science Officer Dr. Ingrid Caras and Evie Junior. Evie is a pioneer in this struggle, having lived with sickle cell all his life but now hoping to live his life free of the disease. He is five months past a treatment that holds out the hope of eradicating the distorted blood cells that cause such devastation to people with the disease.
You can listen to his story, and hear about the other progress being made. Here’s a recording of the Zoom event.
All this month we are using our blog and social media to highlight a new chapter in CIRM’s life, thanks to the voters approving Proposition 14. We are looking back at what we have done since we were created in 2004, and also looking forward to the future.Today we have a guest blog by CIRM Senior Science Officer Lisa Kadyk, outlining how she and her colleagues actively search for the best science to fund.
This is Lisa Kadyk, a Science Officer from the CIRM Therapeutics team, here to tell you about some of the work our team does to support the CIRM mission of accelerating stem cell treatments to patients with unmet medical needs. Our job involves seeking out and recruiting great scientists to apply to CIRM and supporting those we fund.
Therapeutics team members manage both the awards that fund the final preclinical studies required before testing a therapeutic in a clinical trial (CLIN1), and the awards that fund the clinical trials themselves (CLIN2).
I mentioned above that we actively recruit new applicants for our CLIN1 and CLIN2 awards – which is not an activity that is typical of most funding agencies – so why and how do we do this?
It all comes down to our mission of accelerating the development of therapies to help patients with unmet medical needs. It turns out that there are many potential applicants developing cutting edge therapies who don’t know much or anything about CIRM, and the ways we can help them with getting those therapies to the clinic and through clinical trials. So, to bridge this gap, we Science Officers attend scientific conferences, read the scientific literature and meet regularly with each other to stay abreast of new therapeutic approaches being developed in both academia and industry, with the goal of identifying and reaching out to potential applicants about what CIRM has to offer.
What are some of the things we tell potential applicants about how partnering with CIRM can help accelerate their programs? First of all, due to the efforts of a very efficient Review team, CIRM is probably the fastest in the business for the time between application and potential funding. It can be as short as three months for a CLIN1 or CLIN2 application to be reviewed by the external Grants Working Group and approved by the CIRM Board, whereas the NIH (for example) estimates it takes seven to ten months to fund an application. Second, we have frequent application deadlines (monthly for CLIN1 and CLIN2), so we are always available when the applicant is ready to apply. Third, we have other accelerating mechanisms in place to help grantees once they’ve received funding, such as the CIRM Alpha Stem Cell Clinics network of six clinical sites throughout California (more efficient clinical trial processes and patient recruitment) and Clinical Advisory Panels (CAPs) – that provide technical, clinical or regulatory expertise as well as patient advocate guidance to the grantee. Finally, we Science Officers do our best to help every step of the way, from application through grant closeout.
We now feel confident that our recruitment efforts, combined with CIRM’s more efficient funding pipeline and review processes, are accelerating development of new therapies. Back in 2016, a new CIRM Strategic Plan included the goal of recruiting 50 successful (i.e., funded) clinical trial applicants within five years. This goal seemed like quite a stretch, since CIRM had funded fewer than 20 clinical trials in the previous ten years. Fast-forward to the end of 2020, and CIRM had funded 51 new trials in those five years, for a grand total of 68 trials.
Now, with the passage of Proposition 14 this past November, we are looking forward to bringing more cell and gene therapeutic candidates into clinical trials. If you are developing one yourself, feel free to let us know… or don’t be surprised if you hear from us!
All this month we are using our blog and social media to highlight a new chapter in CIRM’s life, thanks to the voters approving Proposition 14. We are looking back at what we have done since we were created in 2004, and also looking forward to the future. Today we take a deeper dive into CIRM’s Alpha Stem Cell Clinics Network. The following is written by Dr. Geoff Lomax, Senior Officer of CIRM Therapeutics and Strategic Infrastructure.
The year 2014 has been described as the regenerative medicine renaissance: the European Union approved its first stem cell-based therapy and the FDA authorized ViaCyte’s CIRM funded clinical trial for diabetes. A path forward for stem cell treatments had emerged and there was a growing pipeline of products moving towards the clinic. At the time, many in the field came to recognize the need for clinical trial sites with the expertise to manage this growing pipeline. Anticipating this demand, CIRM’s provided funding for a network of medical centers capable of supporting all aspect of regenerative medicine clinical trials. In 2015, the Alpha Stem Cell Clinics Network was launched to for this purpose.
The Alpha Clinics Network is comprised of leading California medical centers with specific expertise in delivering patient-centered stem cell and gene therapy treatments. UC San Diego, City of Hope, UC Irvine and UC Los Angeles were included in the initial launch, and UC San Francisco and UC Davis entered the network in 2017. Between 2015 and 2020 these sites supported 105 regenerative medicine clinical trials. Twenty-three were CIRM-funded clinical trials and the remaining 82 were sponsored by commercial companies or the Alpha Clinic site. These trials are addressing unmet medical needs for almost every disease where regenerative medicine is showing promise including blindness, blood disorders (e.g. sickle cell disease) cancer, diabetes, HIV/AIDS, neurological diseases among others.
As of spring of 2020 the network had inked over $57 million in contracts with commercial sponsors. High demand for Alpha Clinics reflects the valuable human and technical resources they provide clinical trial sponsors. These resources include:
Skilled patient navigators to educate patients and their families about stem cell and gene therapy treatments and assist them through the clinical trial process.
Teams and facilities specialized in the manufacturing and/or processing of patients’ treatments. In some instances, multiple Alpha Clinic sites collaborate in manufacturing and delivery of a personalized treatment to the patient.
Nurses and clinicians with experience with regenerative medicine and research protocols to effectively deliver treatments and subsequently monitor the patients.
The multi- site collaborations are an example of how the network operates synergistically to accelerate the development of new treatments and clinical trials. For example, the UC San Francisco Alpha Clinic is collaborating with UC Berkeley and the UC Los Angeles Alpha Clinic to develop a CIRM-funded gene therapy for sickle cell disease. Each partner brings a unique expertise to the program that aims to correct a genetic mutilation in the patients’ blood stem cells to effectively cure the disease. Most recently, City of Hope has partnered with UC Irvine and UC San Diego as part of CIRM’s COVID-19 research program to study how certain immune system antibodies might be used as a treatment for respiratory disease in infected patients. In another COVID-19 study, UC Irvine and UC Davis are working with a commercial sponsor to evaluate a treatment for infected adults.
The examples above are a small sample of the variety of collaborations CIRM funding has enabled. As the Alpha Clinics track record grown, sponsors are increasingly coming to California to enable the success of their research programs. Sponsors with trials running across the country have noted a desire to expand their number of Alpha Clinic sties because they consistently perform at the highest level.
Back in 2014, it was hard to imagine over one hundred clinical trials would be served by the CIRM network in just five years. Fortunately, CIRM was able to draw on the knowledge of its internal team, external advisors and the ICOC to anticipate this need and provide California infrastructure to rise to the occasion.
All this month we are using our blog and social media to highlight a new chapter in CIRM’s life, thanks to the people of California approving Proposition 14. We are looking back at what we have done since we were created in 2004, and also looking forward to the future.
The news that effective vaccines have been developed to help fight COVID-19 was a truly bright spot at the end of a very dark year. But it will be months, in some countries years, before we have enough vaccines to protect everyone. That’s why it’s so important to keep pushing for more effective ways to help people who get infected with the virus.
One of those ways is in a clinical study that CIRM is funding with City of Hope’s Dr. John Zaia. Dr. Zaia and his team, in partnership with the Translational Genomics Research Institute (TGen) in Flagstaff, Arizona, are using something called convalescent plasma to try and help people who have contracted the virus. Here’s the website they have created for the study.
Plasma is a part of our blood that carries proteins, called antibodies, that help defend our bodies against viral infections. When a patient recovers from COVID-19, their blood plasma contains antibodies against the virus. The hope is that those antibodies can now be used as a potential treatment for COVID-19 to help people who are newly infected.
For the study to succeed they’ll first need people who have recovered from the virus to donate blood. That’s particularly appropriate in January because this is National Volunteer Blood Donor Month.
The team has three elements to their approach:
A rapid-response screening program to screen potential COVID-19 convalescent plasma donors, particularly in underserved communities.
A laboratory center that can analyze the anti-SARS-CoV-2 antibodies properties in COVID-19 convalescent plasma.
An analysis of the clinical course of the disease in COVID-19 patients to identify whether antibody properties correlate with clinical benefit of COVID-19 convalescent plasma.
There’s reason to believe this approach might work. A study published this week in the New England Journal of Medicine, found that blood plasma from people who have recovered from COVID-19 can help older adults and prevent them from getting seriously ill with the virus if they get the plasma within a few days of becoming infected.
We are used to thinking of blood donations as being used to help people after surgery or who have been in an accident. In this study the donations serve another purpose, but one that is no less important. The World Health Organization describes blood as “the most precious gift that anyone can give to another person — the gift of life. A decision to donate your blood can save a life, or even several if your blood is separated into its components — red cells, platelets and plasma.”
That plasma could help in developing more effective treatments against the virus. Because until we have enough vaccines for everyone, we are still going to need as much help as we can get in fighting COVID-19. The recent surge in cases throughout the US and Europe are a reminder that this virus is far from under control. We have already lost far too many people. So, if you have recently recovered from the virus, or know someone who has, consider donating blood to this study. It could prove to be a lifesaver.
For more information about the study and how you can be part of it, click here.
All this month we are using our blog and social media to highlight a new chapter in CIRM’s life, thanks to the voters approving Proposition 14. We are looking back at what we have done since we were created in 2004, and also looking forward to the future.Today we take a look at our Review team.
Many people who have to drive every day don’t really think about what’s going on under the hood of their car. As long as the engine works and gets them from A to B, they’re happy. I think the same is true about CIRM’s Review team. Many people don’t really think about all the moving parts that go into reviewing a promising new stem cell therapy.
But that’s a shame, because they are really missing out on watching a truly impressive engine at work.
Just consider the simple fact that since CIRM started about 4,000 companies, groups and individuals have applied to us for funding. Just take a moment to consider that number. Four thousand. Then consider that at no time have there been more than 5 people working in the review team. That’s right. Just 5 people. And more recently there have been substantially fewer. That’s a lot of projects and not a lot of people to review them. So how do they do it? Easy. They’re brilliant.
First, as applications come in they are scrutinized to make sure they meet specific eligibility requirements; do they involve stem cells, is the application complete, is it the right stage of research, is the budget they are proposing appropriate for the work they want to do etc. If they pass that initial appraisal, they then move on to the second round, the Grants Working Group or GWG.
The GWG consists of independent scientific experts from all over the US, all over the world in fact. However, none are from California because we want to ensure there are no possible conflicts of interest. When I say experts, I do mean experts. These are among the top in their field and are highly sought after to do reviews with the National Institutes of Health etc.
Mark Noble, PhD, the Director of the Stem Cell and Regenerative Medicine Institute at the University of Rochester, is a long-time member of the GWG. He says it’s a unique group of people:
“It’s a wonderful scientific education because you come to these meetings and someone is putting in a grant on diabetes and someone’s putting in a grant on repairing the damage to the heart or spinal cord injury or they have a device that will allow you to transplant cells better and there are people in the room that are able to talk knowledgeably about each of these areas and understand how this plays into medicine and how it might work in terms of actual financial development and how it might work in the corporate sphere and how it fits in to unmet medical needs . I don’t know of any comparable review panels like this that have such a broad remit and bring together such a breadth of expertise which means that every review panel you come to you are getting a scientific education on all these different areas, which is great.”
The GWG reviews the projects for scientific merit: does the proposal seem plausible, does the team proposing it have the experience and expertise to do the work etc. The reviewers put in a lot of work ahead of time, not just reviewing the application, but looking at previous studies to see if the new application has evidence to support what this team hope to do, to compare it to other efforts in the same field. There are disagreements, but also a huge amount of respect for each other.
Once the GWG makes its recommendations on which projects to fund and which ones not to, the applications move to the CIRM Board, which has the final say on all funding decisions. The Board is given detailed summaries of each project, along with the recommendations of the GWG and our own CIRM Review team. But the Board is not told the identity of any of the applicants, those are kept secret to avoid even the appearance of any conflict of interest.
The Board is not required to follow the recommendations of the GWG, though they usually do. But the Board is also able to fund projects that the GWG didn’t place in the top tier of applications. They have done this on several occasions, often when the application targeted a disease or disorder that wasn’t currently part of the agency’s portfolio.
So that’s how Review works. The team, led by Dr. Gil Sambrano, does extraordinary work with little fanfare or fuss. But without them CIRM would be a far less effective agency.
The passage of Proposition 14 means we now have a chance to resume full funding of research, which means our Review team is going to be busier than ever. They have already started making changes to the application requirements. To help let researchers know what those changes are we are holding a Zoom webinar tomorrow, Thursday, at noon PST. If you would like to watch you can find it on our YouTube channel. And if you have questions you would like to ask send them to firstname.lastname@example.org
Brenden Whittaker was born with a rare genetic disorder called X-linked chronic granulomatous disease (X-CGD). This condition affects the immune system’s ability to fight off common germs, specifically bacteria and fungi, and can result in infections that would only be mild for healthy people. Unfortunately for Brenden, he has suffered life-threatening infections that have required him to be hospitalized hundreds of times throughout most of his childhood. At only 16 years old, he got a very bad case of pneumonia that resulted in having tissue from his right lung removed. By age 22, the treatments he had received to fight off infections had stopped working entirely.
His prognosis looked grim, but fortunately he was informed of a CIRM-funded clinical trial conducted by Dr. Don Kohn to treat his condition. He would go on to become the first participant in this trial, which involved taking his blood stem cells, using gene therapy to correct the X-CGD mutation, and reintroducing these modified cells back into his body. Following his treatment, blood tests confirmed that the treatment produced enough corrected cells for Brenden to now be protected from severe infection.
Before the CIRM-funded treatment, the chances of severe infection were virtually everywhere, something many of us might better understand given everything going on with COVID-19. But now with a new lease on life, Brenden is giving back to the very community that helped him in his time of need. He is currently working as a patient care associate at his local hospital in Ohio. Considered an essential worker, Brenden’s responsibilities include taking patients’ vital signs, helping them eat and get cleaned up, and going for walks around the unit with those who are able to do so. He also plans to attend nursing school in the future.
In a news release, Brenden talks about wanting to give back to those in similar situations as him and demonstrates true selflessness.
“My job entails doing anything I can to make a patient’s time in the hospital a little bit easier while at the same time helping the doctors and nurses monitor for any new health developments. From the nurses who sat with me holding my hand and telling me about their lives when I was up in the middle of the night with a fever, to the patient transporters who remembered my name and talked with me the whole way to surgery, to the doctors who wouldn’t give up until they found an option that worked for me, these people are the reason the hospital setting is the only place I want to work. If I can help even one person the way these people have helped me, I will be happy.”
In addition to Brenden, five additional patients who received the same treatment for X-CGD are also doing well. This same gene therapy approach for blood stem cells was used in another CIRM-funded trial for SCID, another kind of genetic immune disorder. The SCID trial resulted in over 50 babies being cured of the condition, including little Evie, who is featured on the cover of CIRM’s 18-month report.
Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease, is a neurodegenerative disease that destroys the nerve cells in the brain and spinal cord. As a result of ALS, the motor neurons that enable bodily movement and muscle control are harmed, which can make it difficult to move, speak, eat, and breathe. This condition usually affects people from age 40 to 70, but individuals in their 20s and 30s have also been known to develop ALS. Unfortunately there is no cure for this condition.
However, a study supported by CIRM and conducted by Dr. Martin Marsala at UC San Diego is using a mouse model to look at an approach that uses a gene silencer to protect motor neurons before or shortly after ALS symptoms start to develop.
The gene silencer works by turning off a targeted gene and is delivered via injection. In the case of ALS, previous research suggests that mutations in a gene called SOD1 may cause motor neuronal cell death, resulting in ALS. For this study, Dr. Marsala and his team injected the gene silencer at two sites in the spinal cord in adult mice expressing an ALS-causing mutation of the SOD1 gene. The mice injected did not yet display symptoms of ALS or had only begun showing symptoms.
In mice not yet showing ALS symptoms, they displayed normal neurological function with no onset ALS symptoms after treatment. Additionally, near complete protection of motor neurons and other cells was observed. In mice that had just began showing ALS symptoms, the injection blocked further disease progression as well as further harm to remaining motor neurons. Both of these groups of mice lived without negative side effects for the duration of the study.
In a news release, Dr. Marsala talks about what these results mean for the study of ALS.
“At present, this therapeutic approach provides the most potent therapy ever demonstrated in mouse models of mutated SOD1 gene-linked ALS.”
The next steps for this research would be to conduct additional safety studies with a larger animal model in order to determine an optimal, safe dose for the treatment.
The full results of this study were published in Nature Medicine.
In addition to supporting this research for ALS, CIRM has funded two clinical trials in the field as well. One of these trials is being conducted by BrainStorm Cell Therapeutics and the other trial is being by Cedars-Sinai Medical Center.
When you read about a new drug or therapy being approved to help patients it always seems so simple. Researchers come up with a brilliant idea, test it to make sure it is safe and works, and then get approval from the US Food and Drug Administration (FDA) to sell it to people who need it.
But it’s not always that simple, or straight forward. Sometimes it can take years, with several detours along the way, before the therapy finds its way to patients.
That’s the case with a blood cancer drug called fedratinib (we blogged about it here) and the relentless efforts by U.C. San Diego researcher Dr. Catriona Jamieson to help make it available to patients. CIRM funded the critical early stage research to help show this approach could help save lives. But it took many more years, and several setbacks, before Dr. Jamieson finally succeeded in getting approval from the FDA.
The story behind that therapy, and Dr. Jamieson’s fight, is told in the San Diego Union Tribune. Reporter Brad Fikes has been following the therapy for years and in the story he explains why he found it so fascinating, and why this was a therapy that almost didn’t make it.
CIRM’s mission is very simple: to accelerate stem cell treatments to patients with unmet medical needs. Anne Klein’s son, Everett, was a poster boy for that statement. Born with a fatal immune disorder Everett faced a bleak future. But Anne and husband Brian were not about to give up. The following story is one Anne wrote for Parents magazine. It’s testament to the power of stem cells to save lives, but even more importantly to the power of love and the determination of a family to save their son.
My Son Was Born With ‘Bubble Boy’ Disease—But A Gene Therapy Trial Saved His Life
I wish more than anything that my son Everett had not been born with severe combined immunodeficiency (SCID). But I know he is actually one of the lucky unlucky ones. By Anne Klein
As a child in the ’80s, I watched a news story about David Vetter. David was known as “the boy in the bubble” because he was born with severe combined immunodeficiency (SCID), a rare genetic disease that leaves babies with very little or no immune system. To protect him, David lived his entire life in a plastic bubble that kept him separated from a world filled with germs and illnesses that would have taken his life—likely before his first birthday.
I was struck by David’s story. It was heartbreaking and seemed so otherworldly. What would it be like to spend your childhood in an isolation chamber with family, doctors, reporters, and the world looking in on you? I found it devastating that an experimental bone marrow transplant didn’t end up saving his life; instead it led to fatal complications. His mother, Carol Ann Demaret, touched his bare hand for the first and last time when he was 12 years old.
I couldn’t have known that almost 30 years later, my own son, Everett, would be born with SCID too.
Everett’s SCID diagnosis
At birth, Everett was big, beautiful, and looked perfectly healthy. My husband Brian and I already had a 2-and-a-half-year-old son, Alden, so we were less anxious as parents when we brought Everett home. I didn’t run errands with Alden until he was at least a month old, but Everett was out and about with us within a few days of being born. After all, we thought we knew what to expect.
But two weeks after Everett’s birth, a doctor called to discuss Everett’s newborn screening test results. I listened in disbelief as he explained that Everett’s blood sample indicated he may have an immune deficiency.
“He may need a bone marrow transplant,” the doctor told me.
I was shocked. Everett’s checkup with his pediatrician just two days earlier went swimmingly. I hung up and held on to the doctor’s assurance that there was a 40 percent chance Everett’s test result was a false positive.
After five grueling days of waiting for additional test results and answers, I received the call: Everett had virtually no immune system. He needed to be quickly admitted to UCSF Benioff Children’s Hospital in California so they could keep him isolated and prepare to give him a stem cell transplant. UCSF diagnosed him specifically with SCID-X1, the same form David battled.
Beginning SCID treatment
The hospital was 90 miles and more than two hours away from home. Our family of four had to be split into two, with me staying in the hospital primarily with Everett and Brian and Alden remaining at home, except for short visits. The sudden upheaval left Alden confused, shaken, and sad. Brian and I quickly transformed into helicopter parents, neurotically focused on every imaginable contact with germs, even the mildest of which could be life-threatening to Everett.
When he was 7 weeks old, Everett received a stem cell transplant with me as his donor, but the transplant failed because my immune cells began attacking his body. Over his short life, Everett has also spent more than six months collectively in the hospital and more than three years in semi-isolation at home. He’s endured countless biopsies, ultrasounds, CT scans, infusions, blood draws, trips to the emergency department, and medical transports via ambulance or helicopter.
Gene therapy to treat SCID
At age 2, his liver almost failed and a case of pneumonia required breathing support with sedation. That’s when a doctor came into the pediatric intensive care unit and said, “When Everett gets through this, we need to do something else for him.” He recommended a gene therapy clinical trial at the National Institutes of Health (NIH) that was finally showing success in patients over age 2 whose transplants had failed. This was the first group of SCID-X1 patients to receive gene therapy using a lentiviral vector combined with a light dose of chemotherapy.
After the complications from our son’s initial stem cell transplant, Brian and I didn’t want to do another stem cell transplant using donor cells. My donor cells were at war with his body and cells from another donor could do the same. Also, the odds of Everett having a suitable donor on the bone marrow registry were extremely small since he didn’t have one as a newborn. At the NIH, he would receive a transplant with his own, perfectly matched, gene-corrected cells. They would be right at home.
Other treatment options would likely only partially restore his immunity and require him to receive infusions of donor antibodies for life, as was the case with his first transplant. Prior gene therapy trials produced similarly incomplete results and several participants developed leukemia. The NIH trial was the first one showing promise in fully restoring immunity, without a risk of cancer. Brian and I felt it was Everett’s best option. Without hesitation, we flew across the country for his treatment. Everett received the gene therapy in September 2016 when he was 3, becoming the youngest patient NIH’s clinical trial has treated.
It’s been more than two years since Everett received gene therapy and now more than ever, he has the best hope of developing a fully functioning immune system. He just received his first vaccine to test his ability to mount a response. Now 6 years old, he’s completed kindergarten and has been to Disney World. He plays in the dirt and loves shows and movies from the ’80s (maybe some of the same ones David enjoyed).
Everett knows he has been through a lot and that his doctors “fixed his DNA,” but he’s focused largely on other things. He’s vocal when confronted with medical pain or trauma, but seems to block out the experiences shortly afterwards. It’s sad for Brian and me that Everett developed these coping skills at such a young age, but we’re so grateful he is otherwise expressive and enjoys engaging with others. Once in the middle of the night, he woke us up as he stood in the hallway, exclaiming, “I’m going back to bed, but I just want you to know that I love you with all my heart!”
I wish more than anything that Everett had not been born with such a terrible disease and I could erase all the trauma, isolation, and pain. But I know that he is actually one of the lucky unlucky ones. Everett is fortunate his disease was caught early by SCID newborn screening, which became available in California not long before his birth. Without this test, we would not have known he had SCID until he became dangerously ill. His prognosis would have been much worse, even under the care of his truly brilliant and remarkable doctors, some of whom cared for David decades earlier.
When Everett was 4, soon after the gene therapy gave him the immunity he desperately needed, our family was fortunate enough to cross paths with David’s mom, Carol Ann, at an Immune Deficiency Foundation event. Throughout my life, I had seen her in pictures and on television with David. In person, she was warm, gracious, and humble. When I introduced her to Everett and explained that he had SCID just like David, she looked at Everett with loving eyes and asked if she could touch him. As she touched Everett’s shoulder and they locked eyes, Brian and I looked on with profound gratitude.
Anne Klein is a parent, scientist, and a patient advocate for two gene therapy trials funded by the California Institute for Regenerative Medicine. She is passionate about helping parents of children with SCID navigate treatment options for their child.
At CIRM we are very cautious about using the “c” word. Saying someone has been “cured” is a powerful statement but one that loses its meaning when over used or used inappropriately. However, in the case of a new study from U.C. San Francisco and St. Jude Children’s Research Hospital in Memphis, saying “cure” is not just accurate, it’s a celebration of something that would have seemed impossible just a few years ago.
The research focuses on children with a specific form of Severe Combined Immunodeficiency (SCID) called X-Linked SCID. It’s also known as “bubble baby” disease because children born with this condition lack a functioning immune system, so even a simple infection could be fatal and in the past they were kept inside sterile plastic bubbles to protect them.
In this study, published in the New England Journal of Medicine, researchers took blood stem
cells from the child and, in the lab, genetically re-engineered them to correct
the defective gene, and then infused them back into the child. Over time they
multiplied and created a new blood supply, one free of the defect, which helped
repair the immune system.
In a news
release Dr. Ewelina Mamcarz, the lead author of the study, announced that
ten children have been treated with this method.
“These patients are toddlers now, who are responding to
vaccinations and have immune systems to make all immune cells they need for
protection from infections as they explore the world and live normal lives.
This is a first for patients with SCID-X1.”
The ten children were treated at both St. Jude and at UCSF
funded the UCSF arm of the clinical trial.
The story, not surprisingly, got a lot of attention in the
media including this fine
piece by CNN.