When Hataalii Begay was born in a remote part of the Navajo nation he was diagnosed with a rare, usually fatal condition. Today, thanks to a therapy developed at UCSF and funded by CIRM, he’s a normal healthy four year old boy running around in cowboy boots.
That stem cell therapy could now help save the lives of other children born with this deadly immune disorder because it has been granted fast-track review status by the US Food and Drug Administration (FDA).
The disorder is Artemis-SCID, a form of severe combined immunodeficiency disease. Children born with this condition have no functioning immune system so even a simple infection can prove life-threatening or fatal.
Currently, the only approved treatment for Artemis-SCID is a bone-marrow transplant, but many children are unable to find a healthy matched donor for that procedure. Even when they do find a donor they often need regular injections of immunoglobulin to boost their immune system.
In this clinical trial, UCSF Doctors Mort Cowan and Jennifer Puck are using the patient’s own blood stem cells, taken from their bone marrow. In the lab, the cells are modified to correct the genetic mutation that causes Artemis-SCID and then re-infused back into the patients. The goal is that over the course of several months these cells will create a new blood supply, one that is free of Artemis-SCID, and that will in turn help repair the child’s immune system.
So far the team has treated ten newly-diagnosed infants and three older children who failed transplants. Dr. Cowan says early data from the trial is encouraging. “With gene therapy, we are seeing these babies getting older. They have normal T-cell immunity and are getting immunized and vaccinated. You wouldn’t know they had any sort of condition if you met them; it’s very heartening.”
Because of that encouraging data, the FDA is granting this approach Regenerative Medicine Advanced Therapy (RMAT) designation. RMAT is a fast-track designation that can help speed up the development, review and potential approval of treatments for serious or life-threatening diseases.
“This is great news for the team at UCSF and in particular for the children and families affected by Artemis-SCID,” says Dr. Maria T. Millan, the President and CEO of CIRM. “The RMAT designation means that innovative forms of cell and gene therapies like this one may be able to accelerate their route to full approval by the FDA and be available to all the patients who need it.”
Yesterday the governing Board of the California Institute for Regenerative Medicine (CIRM) awarded $8.39 million to the University of California, San Francisco (UCSF) to fund a clinical trial for sickle cell disease (SCD). An additional $51.08 million was awarded to fifteen community colleges and universities across California to fund undergraduate and master’s level programs that will help train the next generation of stem cell researchers.
SCD is an inherited blood disorder caused by a single gene mutation that changes a single base in the B globin gene leading to the production of defective hemoglobin that polymerizes and damages red blood cells thus the “sickle” shaped red blood cells. The damaged cells cause blood vessels to occlude/close up and that can lead to multiple organ damage as well as reduced quality of life and life expectancy.
Mark Walters, M.D., and his team at UCSF Benioff Children’s Hospital Oakland will be conducting a clinical trial that uses CRISPR-Cas9 gene editing technology to correct the genetic mutation in the blood stem cells of patients with severe SCD. The corrected blood stem cells will then be reintroduced back into patients with the goal of correcting the defective hemoglobin and thus producing functional, normal shaped red blood cells.
This clinical trial will be eligible for co-funding under the landmark agreement between CIRM and the National Heart, Lung, and Blood Institute (NHLBI) of the NIH. The CIRM-NHLBI agreement is intended to co-fund cell and gene therapy programs under the NHLBI’s “Cure Sickle Cell” initiative. The goal is to markedly accelerate the development of cell and gene therapies for SCD. CIRM has previously funded the preclinical development of this therapy through a Translational award as well as its IND-enabling studies through a Late Stage Preclinical award in partnership with NHLBI.
The CIRM Bridges to Stem Cell Research and Therapy program provides undergraduate and master’s students with the opportunity to take stem cell related courses and receive hands on experience and training in a stem cell research related laboratory at a university or biotechnology company. Fifteen institutions received a total of $51.08 million to carry out these programs to train the next generation of scientists.
The awards are summarized in the table below.
Application
Title
Institution
Award Amount
EDUC2-12607
Bridges to Stem Cell Research and Therapy at Pasadena City College
Pasadena City College
$3,605,500
EDUC2-12611
CIRM Bridges to Stem Cell Research and Therapy Training Grant
CSU San Marcos
$3,606,500
EDUC2-12617
Bridges to Stem Cell Research Internship Program
San Diego State University
$3,606,500
EDUC2-12620
CIRM Bridges 3.0
Humboldt State
$3,605,495
EDUC2-12638
CIRM Regenerative Medicine and Stem Cell Research Biotechnology Training Program
CSU Long Beach
$3,276,500
EDUC2-12677
Stem Cell Internships in Laboratory-based Learning (SCILL) continue to expand the scientific workforce for stem cells research and therapies.
San Jose State University
$3,606,500
EDUC2-12691
Strengthening the Pipeline of Master’s-level Scientific and Laboratory Personnel in Stem Cell Research
CSU Sacramento
$2,946,500
EDUC2-12693
CIRM Bridges Science Master’s Program
San Francisco State University
$3,606,500
EDUC2-12695
CIRM Graduate Student Training in Stem Cell Sciences in the Stem Cell Technology and Lab Management Emphasis of the MS Biotechnology Program
CSU Channel Islands
$3,606,500
EDUC2-12718
CSUN CIRM Bridges 3.0 Stem Cell Research & Therapy Training Program
CSU Northridge
$3,606,500
EDUC2-12720
Stem Cell Scholars: a workforce development pipeline, educating, training and engaging students from basic research to clinical translation.
CSU San Bernardino
$3,606,500
EDUC2-12726
Training Master’s Students to Advance the Regenerative Medicine Field
Cal Poly San Luis Obispo
$3,276,500
EDUC2-12730
Building Career Pathways into Stem Cell Research and Therapy Development
City College of San Francisco
$2,706,200
EDUC2-12734
Bridges to Stem Cell Research and Therapy: A Talent Development Program for Training Diverse Undergraduates for Careers in Regenerative Medicine
CSU Fullerton
$3,606,500
EDUC2-12738
CIRM Bridges to Stem Cell Research and Therapy
Berkeley City College
$2,806,896
“We are pleased to fund a promising trial for sickle cell disease that uses the Nobel Prize winning gene editing technology CRISPR-Cas9,” says Maria T. Millan, M.D., President and CEO of CIRM. “This clinical trial is a testament to how the CIRM model supports promising early-stage research, accelerates it through translational development, and advances it into the clinics. As the field advances, we must also meet the demand for promising young scientists. The CIRM Bridges programs across the state of California will provide students with the tools and resources to begin their careers in regenerative medicine.”
The University of California, San Francisco (UCSF), in collaboration with UC Berkeley (UCB) and UC Los Angeles (UCLA), have been given permission by the US Food and Drug Administration (FDA) to launch a first-in-human clinical trial using CRISPR technology as a gene-editing technique to cure Sickle Cell Disease.
This research has been funded by CIRM from the early stages and, in a co-funding partnership with theNational Heart, Lung, and Blood Institute under the Cure Sickle Cell initiatve, CIRM supported the work that allowed this program to gain FDA permission to proceed into clinical trials.
Sickle Cell Disease is a blood disorder that affects around 100,000 people, mostly Black and Latinx people in the US. It is caused by a single genetic mutation that results in the production of “sickle” shaped red blood cells. Normal red blood cells are round and smooth and flow easily through blood vessels. But the sickle-shaped ones are rigid and brittle and clump together, clogging vessels and causing painful crisis episodes, recurrent hospitalization, multi-organ damage and mini-strokes.
The three UC’s have combined their respective expertise to bring this program forward.
The CRISPR-Cas9 technology was developed by UC Berkeley’s Nobel laureate Jennifer Doudna, PhD. UCLA is a collaborating site, with expertise in genetic analysis and cell manufacturing and UCSF Benioff Children’s Hospital Oakland is the lead clinical center, leveraging its renowned expertise in cord blood and marrow transplantation and in gene therapy for sickle cell disease.
The approach involves retrieving blood stem cells from the patient and, using a technique involving electrical pulses, these cells are treated to correct the mutation using CRISPR technology. The corrected cells will then be transplanted back into the patient.
Dr. Mark Walters
In a news release, UCSF’s Dr. Mark Walters, the principal investigator of the project, says using this new gene-editing approach could be a game-changer. “This therapy has the potential to transform sickle cell disease care by producing an accessible, curative treatment that is safer than the current therapy of stem cell transplant from a healthy bone marrow donor. If this is successfully applied in young patients, it has the potential to prevent irreversible complications of the disease. Based on our experience with bone marrow transplants, we predict that correcting 20% of the genes should be sufficient to out-compete the native sickle cells and have a strong clinical benefit.”
Dr. Maria T. Millan, President & CEO of CIRM, said this collaborative approach can be a model for tackling other diseases. “When we entered into our partnership with the NHLBI we hoped that combining our resources and expertise could accelerate the development of cell and gene therapies for SCD. And now to see these three UC institutions collaborating on bringing this therapy to patients is truly exciting and highlights how working together we can achieve far more than just operating individually.”
The 4-year study will include six adults and three adolescents with severe sickle cell disease. It is planned to begin this summer in Oakland and Los Angeles.
The three UCs combined to produce a video to accompany news about the trial. Here it is:
There are some people who, when you think of them, always bring a smile to your face. Dr. Bert Lubin was one of those people. Sadly, we lost Bert to brain cancer two days ago. But the impact he had, not just as an advocate for stem cell research but as a pioneer in sickle cell disease research and a champion for children’s health, will live on.
Bert had a number of official titles but probably the one he was most proud of was President & CEO of Children’s Hospital Oakland (now UCSF Benioff Children’s Hospital Oakland). But it wasn’t the title that he cared about, it was the opportunity it gave him to make a difference in the life of children in Oakland, to create a program to find new treatments and cures for a life-threatening disease. And he has made a difference.
As I started to write this tribute to Bert, I thought about who I should ask for a quote. And then I realized I had the perfect person. Bert himself. I was fortunate enough to interview him in December 2018, when he decided to step down after eight years on the CIRM Board. As always, he had his own positive spin on that, saying: “I don’t see myself leaving. I’m just repurposing what is my role in CIRM. I’m recycling and reinventing.”
And Bert was always full of invention.
He grew up in Bellevue, a small town outside Pittsburgh, PA. His parents ran a fruit and vegetable market there and, growing up, Bert often worked in the store. It wasn’t something he enjoyed but he said he learned some valuable lessons.
“I think what happened in my childhood is that I learned how to sell. I am a salesman. I hated working in that store, I hated it, but I liked the communication with people, they trusted me, I could sell things and they were good things. Like Christmas. I’m Jewish, we were the only Jews in that community, and at Christmas we sold Christmas trees, but the trees were sometimes crooked and they were $2.99 a tree so I convinced families that I could go to their house and set the tree so it looked straight and I helped them decorate it and they loved it.”
He said, thinking back on his life it’s almost as if there were a plan, even if he wasn’t aware of it.
“I started thinking about that more recently, I started wondering how did this even happen? I’m not a religious person but it’s almost like there’s some fate. How did I get there? It’s not that I planned it that way and it’s certainly not that my parents planned it because I was the first in my family to go to high school let alone college. My parents, when I went to medical school and then decided I wanted to spend more time in an academic direction, they were upset. They wanted me to go into practice in a community that I grew up in and be economically secure and not be on the fringe in what an academic life is like.”
And then, fate stepped in and brought him to the San Francisco Bay Area.
“What happened was, I was at the University of Pennsylvania having trained at Boston Children’s and Philadelphia Children’s, where I had started a sickle cell disease program, and was asked to look at a job in southern California to start a sickle cell program there. So, I flew to San Francisco because a lot of people I’d studied with were now working at UCSF and I thought it would be fun to see them before going down to southern California. They took me out to dinner and showed me around and I said this place is beautiful, I can play tennis out here all year round, there’s lots of music – I love jazz – and they said ‘you know Bert, have you looked at Oakland Children’s hospital? We want to start a sickle cell program center, but the patients are all in Oakland and the patient population that would be served is in Oakland. But if you came out to the Bay Area we could partner with you to start that program.
“So, when I walked in the door here (at Oakland) and said ‘I want to create this northern California sickle cell center with UC’ the staff that was here said ‘you know we’re not a research hospital, we are a community based hospital’. I said, ‘I’m not saying you shouldn’t be that but I’m trying to create an opportunity here’ and they said to me ‘as long as you don’t ask for any money you can go and do whatever you want’.
‘They recognized that I had this fire in me to really create something that was novel. And the warmth and community commitment from this place is something that attracted me and then allowed me to build on that.
“For example, when I became the director of the research program we had $500,000 in NIH grants and when I left we had $60 million. We just grew. Why did we grow? Because we cared about the faculty and the community. We had a lovely facility, which was actually the home of the Black Panther party. It was the Black Panthers who started screening for sickle cell on street corners here in Oakland, and they were the start of the national sickle cell act so there’s a history here and I like that history.
“Then I got a sense of the opportunities that stem cell therapies would have for a variety of things, certainly including sickle cell disease, and I thought if there’s a chance to be on the CIRM Board, as an advocate for that sickle cell community, I think I’d be a good spokesperson. So, I applied. I just thought this was an exciting opportunity.
“I thought it was a natural fit for me to add some value, I only want to be on something where I think I add value.”
Bert added value to everything he did. And everyone he met felt valued by him. He was a mentor to so many people, young physicians and nurses, students starting out on their careers. And he was a friend to those in need.
He was an extraordinary man and we are grateful that we were able to call him a colleague, and a friend, for as long as we did.
When Burt stepped down from Children’s his colleagues put together this video about his life and times. It seems appropriate to share it again and remind ourselves of the gift that he was to everyone fortunate enough to know him.
Like many kids, let’s face it, many adults too, Ronav “Ronnie” Kashyap is getting a little bored stuck inside all day during the coronavirus pandemic. This video, shot by his dad Pawash, shows Ronnie trying to amuse himself by pretending to be hard at work.
It’s a lovely moment. It’s also a moment that just a few years ago seemed almost impossible. That’s because Ronnie was born with severe combined immunodeficiency (SCID). SCID kids have no functioning immune system so even a simple infection, such as a cold, can be life-threatening.
Many of those hardest hit by COVID-19 have compromised immune systems. But try fighting the virus if you have no immune system at all. The odds would not be good.
Happily, we don’t have to imagine it because Ronnie is one of around 60 children who have undergone CIRM-supported stem cell/gene therapies that have helped repair their immune system.
In Ronnie’s case he was rushed to UC San Francisco shortly after his birth when a newborn screening test showed he had SCID. He spent the next several months there, in isolation with his parents, preparing for the test. Doctors took his own blood stem cells and, in the lab, corrected the genetic mutation that causes SCID. The cells were then re-infused into Ronnie where they created a new blood supply and repaired his immune system.
How good is his immune system today? Last year his parents, Upasana and Pawash, were concerned about taking Ronnie to a crowded shopping mall for fear he might catch a cold. Their doctor reassured them that he would be fine. So, they went. The doctor was right, Ronnie was fine. However, Upasana and Pawash both caught colds!
Just a few weeks ago Ronnie started pre-school. He loves it. He loves having other kids to play with and his parents love it because it helps him burn off some energy. But they also love it because it showed Ronnie is now leading a normal life, one where they don’t have to worry about everything he does, every person he comes into contact with.
Sounds a bit like how the rest of us are living right now doesn’t it. And the fears that Ronnie’s parents had, that even a casual contact with a friend, a family member or stranger, might prove life-threatening, are ones many of us are experiencing now.
When Ronnie was born he faced long odds. At the time there were only a handful of scientists working to find treatments for SCID. But they succeeded. Now, Ronnie, and all the other children who have been helped by this therapy are living proof that good science can overcome daunting odds to find treatments, and even cures, for the most life-threatening of conditions.
Today there are thousands, probably tens of thousands of scientists around the world searching for treatments and cures for COVID-19. And they will succeed.
Till then the rest of us will have to be like Ronnie. Stay at home, stay safe, and enjoy the luxury of being bored.
Sue and Bill Gross Hall
Photo by Hoang Xuan Pham/ UC Irvine
There are a growing number of predatory clinics in California and around the US, offering unproven stem cell therapies. For patients seeking a legitimate therapy it can often be hard finding a reliable clinic, one offering treatments based on the rigorous science required in a clinical trial sanctioned by the US Food and Drug Administration (FDA). That’s one of the reasons why the California Institute for Regenerative Medicine (CIRM) created the CIRM Alpha Stem Cell Clinic Network and we are delighted the clinics have now been chosen as a Core program of the American Society of Hematology (ASH) Sickle Cell Disease (SCD) Collaborative Trials Network.
The Alpha Clinics are a network of top California medical centers that specialize in delivering stem cell clinical trials to patients. It consists of five leading medical centers throughout California: City of Hope, University of California (UC) San Diego, UC Irvine & UC Los Angeles, UC Davis and UC San Francisco.
The mission of the ASH Research Collaborative SCD Clinical Trials Network is to improve outcomes for individuals with Sickle Cell Disease by promoting innovation in therapy development and clinical trial research.
“The key to finding a cure for this crippling disease, and finding it quickly, is to work together”, says Maria T. Millan, MD, President & CEO of CIRM. “That’s why we are delighted to be chosen as a core program for the ASH Sickle Cell Disease Clinical Trials Network. This partnership means we can share data and information about best practices to help us improve the quality of the research being done and the clinical care we can offer patients. We already have 23 clinical stage therapies in cell and gene therapy, including two clinical trials targeting SCD, so we feel we have a lot to bring to the partnership in terms of experience and expertise.”
Sickle Cell disease is a life-threatening blood disorder that affects 100,000 people, mostly African Americans, in the US. It is caused by a single genetic mutation that results in the production of “sickle” shaped red blood cells that can block blood vessels causing intense pain, recurrent hospitalization, multi-organ damage and strokes.
“We hear a lot about the moonshot for curing cancer, but a moonshot for curing sickle cell disease should also be possible. Sickle cell disease was the first genetic disease that was discovered, and wouldn’t it be great if it is also one of the first ones we can cure in everyone?”
It is hoped that creating this network of clinical trial sites across the US will better serve an historically under-served population.
Establishing links and educational materials across these sites can increase patient engagement and recruitment
Standardizing resources across the network can ensure efficiency and coordination
Improving the training of clinical research staff can promote patient safety and trust and increase research quality
The CIRM Alpha Clinics Network has a proven track record of creating a faster, more streamlined approach in running clinical trials. It has developed the tools and systems to simultaneously launch clinical trials at multiple sites; created model non-disclosure agreements to make it easier for clinical trial sponsors to sign up; created a system to enable one Institutional Review Board (IRB) to approve a trial to be carried out at multiple sites rather than requiring each site to have its own IRB approval; developed best practices to quickly share experience and expertise across the network; and set up a database of over 20 million Californians to improve patient recruitment.
An Executive Summary prepared for the Western States Sickle Cell Disease Clinical Trials Network said: “the ASCC provides a formidable clinical trial unit uniquely qualified to deliver the next generation of cell and gene therapy products for SCD.”
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
Everett Schmitt. Photo: Meg Kumin
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.
Everett’s recovery
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.
Everett Schmitt meeting David Vetter’s mom Carol Ann Demaret. Photo – Brian Schmitt
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.
You can read about the clinical trials we are funding for SCID here, here,here and here.
CIRM Board approves first program eligible for co-funding under the agreement
Adrienne Shapiro, co-founder of Axis Advocacy, with her daughter Marissa Cors, who has Sickle Cell Disease.
Sickle Cell
disease (SCD) is a painful, life-threatening blood disorder that affects around
100,000 people, mostly African Americans, in the US. Even with optimal medical care, SCD shortens expected
lifespan by decades. It is caused by a
single genetic mutation that results in the production of “sickle” shaped red
blood cells. Under a variety of
environmental conditions, stress or viral illness, these abnormal red
blood cells cause severe anemia and blockage of blood vessels leading to
painful crisis episodes, recurrent hospitalization, multi-organ damage and
mini-strokes.
On April 29th the governing Board of the
California Institute for Regenerative Medicine (CIRM) approved $4.49 million to
Dr. Mark Walters at UCSF Benioff Children’s Hospital in Oakland to pursue a
gene therapy cure for this
devastating disease. The gene therapy approach uses CRISPR-Cas9
technology to correct the genetic mutation that leads to sickle cell disease. This program will be eligible for
co-funding under the landmark agreement between CIRM and the National Heart,
Lung and Blood Institute (NHLBI) of the NIH.
This CIRM-NHLBI agreement
was finalized this month to co-fund cell and gene therapy programs under the
NIH “Cure Sickle Cell” initiative. The
goal is to markedly accelerate the development of cell and gene therapies for
SCD. It will deploy CIRM’s resources and expertise that has led to a portfolio of over 50 clinical
trials in stem cell and
regenerative medicine.
“CIRM currently has 23 clinical stage programs in cell and
gene therapy. Given the advancements in
these approaches for a variety of unmet medical needs, we are excited about the
prospect of leveraging this to NIH-NHLBI’s Cure Sickle Cell Initiative,” says
Maria T. Millan, M.D., the President and CEO of CIRM. “We are pleased the NHLBI
sees value in CIRM’s acceleration and funding program and look forward to the
partnership to accelerate cures for sickle cell disease.”
“There is a real
need for a new approach to treating SCD and making life easier for people with
SCD and their families,” says Adrienne Shapiro, the mother of a daughter with
SCD and the co-founder of Axis Advocacy, a sickle cell advocacy and
education organization. “Finding a cure for Sickle Cell would mean that people
like my daughter would no longer have to live their life in short spurts,
constantly having their hopes and dreams derailed by ER visits and hospital
stays. It would mean they get a chance
to live a long life, a healthy life, a normal life.”
CIRM is currently funding two other clinical trials for SCD using different approaches. One of these trials is being conducted at City of Hope and the other trial is being conducted at UCLA.
Dr. Bert Lubin has been a fixture at UCSF Benioff Children’s Hospital Oakland long before it was even called that. When he started there 43 years ago it was just a small community hospital and through his commitment to helping those in need he has helped build it into a remarkable institution.
Over the years he started one of the first newborn screening programs for sickle cell disease, created the world’s first non-profit sibling cord blood donor program and along the way boosted the research budget from $500,000 to $60 million without ever losing sight of the hospital’s primary goal, serving the community.
But with someone like Bert, nothing is ever enough. He became a national leader in the fight to develop better treatments and even a cure for sickle cell disease and then joined the CIRM Board to help us find better treatments and even cures for a wide variety of diseases and disorders.
“I got a sense of the opportunities that stem cell therapies would have for a variety of things, certainly including Sickle Cell Disease and I thought if there’s a chance to be on the Board as an advocate for that population I think I’d be a good spokesperson. I just thought this was an exciting opportunity.”
He says the Stem Cell Agency has done a great job in advancing the field, and establishing California as a global leader.
“I think we are seeing advances in stem cell therapies. I’m proud of the progress we are making and I’m proud of the cures we are providing and I think it’s wonderful that the state had the vision to do something as big as this and to be a leader in the world in that regard.”
Now, after almost eight years Bert is stepping down from the CIRM Board. But he’s not stepping away from CIRM.
I feel committed to CIRM, I don’t need to be on the Board to be committed to CIRM. I don’t see myself leaving, I’m just re-purposing what is my role in my CIRM. I’m recycling and reinventing.
To mark this transition to the next phase of his career, the staff at Children’s put together this video tribute for Bert. It’s a sweet, glowing and heart warming thank you to someone who has done so much for so many people. And plans on doing even more in the years to come.
Rich Lajara, the first patient treated in a CIRM-funded clinical trial
May 4th, 2011 marked a landmark moment for the California Institute for Regenerative Medicine (CIRM). On that day the Stem Cell Agency’s Board voted to invest in its first ever clinical trial, which was also the first clinical trial to use cells derived from embryonic stem cells. Today the Stem Cell Agency reached another landmark, with the Board voting to approve its 50th clinical trial.
“We have come a long way in the past seven and a half years, helping advance the field from its early days to a much more mature space today, one capable of producing new treatments and even cures,” says Jonathan Thomas, JD, PhD, Chair of the CIRM Board. “But we feel that in many ways we are just getting started, and we intend funding as many additional clinical trials as we can for as long as we can.”
The project approved today awards almost $6.2 million to Angiocrine Bioscience Inc. to see if genetically engineered cells, derived from cord blood, can help alleviate or accelerate recovery from the toxic side effects of chemotherapy for people undergoing treatment for lymphoma and other aggressive cancers of the blood or lymph system.
“This is a project that CIRM has supported from an earlier stage of research, highlighting our commitment to moving the most promising research out of the lab and into people,” says Maria T. Millan, MD, President & CEO of CIRM. “Lymphoma is the most common blood cancer and the 6th most commonly diagnosed cancer in California. Despite advances in therapy many patients still suffer severe complications from the chemotherapy, so any treatment that can reduce those complications can not only improve quality of life but also, we hope, improve long term health outcomes for patients.”
The first clinical trial CIRM funded was with Geron, targeting spinal cord injury. While Geron halted the trial for business reasons (and returned the money, with interest) the mantle was later picked up by Asterias Biotherapeutics, which has now treated 25 patients with no serious side effects and some encouraging results.
Rich Lajara was part of the Geron trial, the first patient ever treated in a CIRM-funded clinical trial. He came to the CIRM Board meeting to tell his story saying when he was injured “I knew immediately I was paralyzed. I thought this was the end, little did I know this was just the beginning. I call it being in the wrong place at the right time.”
When he learned about the Geron clinical trial he asked how many people had been treated with stem cells. “Close to none” he was told. Nonetheless he went ahead with it. He says he has never regretted that decision, knowing it helped inform the research that has since helped others.
Since that first trial the Stem Cell Agency has funded a wide range of projects targeting heart disease and stroke, cancer, diabetes, HIV/AIDS and several rare diseases. You can see the full list on the Clinical Trials Dashboard page on our website.
Rich ended by saying: “CIRM has proven how much can be achieved if we invest in cutting-edge medical research. As most of you here probably know, CIRM’s funding from Proposition 71 is about to run out. If I had just one message I wanted people to leave with today it would be this, I will do everything I can to make sure the agency gets refunded and I hope that all of you will join me in that fight. I’m excited for the world of stem cells, particularly in California and can’t wait to see what’s on the horizon.”
The CIRM Board also took time today to honor Dr. Bert Lubin, who is stepping down after serving almost eight years on the Board.
When he joined the Board in February, 2011 Dr. Lubin said: “I hope to use my position on this committee to advocate for stem cell research that translates into benefits for children and adults, not only in California but throughout the world.”
Over the years he certainly lived up to that goal. As a CIRM Board member he has supported research for a broad range of unmet medical needs, and specifically for curative treatments for children born with a rare life-threatening conditions such as Sickle Cell Disease and Severe Combined Immunodeficiency (SCID) as well as treatments to help people battling vision destroying diseases.
As the President & CEO of Children’s Hospital Oakland (now UCSF Benioff Children’s Hospital Oakland) Dr. Lubin was a leader in helping advance research into new treatments for sickle cell disease and addressing health disparities in diseases such as asthma, diabetes and obesity.
Senator Art Torres said he has known Dr. Lubin since the 1970’s and in all that time has been impressed by his devotion to patients, and his humility, and that all Californians should be grateful to him for his service, and his leadership.
Dr. Lubin said he was “Really grateful to be on the Board and I consider it an honor to be part of a group that benefits patients.”
He said he may be stepping down from the CIRM Board but that was all: “I am going to retire the word retirement. I think it’s a mistake to stop doing work that you find stimulating. I’m going to repurpose the rest of my life, and work to make sure the treatments we’ve helped develop are available to everyone. I am so proud to be part of this. I am stepping down, but I am devoted to doing all I can to ensure that you get the resources you need to sustain this work for the future.”
The Stem Cellar 