The field of stem cell research and regenerative medicine has exploded in the last few years with new approaches to treat a wide array of diseases. Although these therapies are quite promising, they face many challenges in trying to bring them from the laboratory and into patients. But why is this? What can we do to ensure that these approaches are able to cross the finish line?
A new article published in Cell Stem Cell titled Translating Science into the Clinic: The Role of Funding Agencies takes a deeper dive into these questions and how agencies like CIRM play an active role in helping advance the science. The article was written by Dr. Maria T. Millan, President & CEO of CIRM, and Dr. Gil Sambrano, Vice President of Portfolio Development and Review at CIRM.
Although funding plays an essential role in accelerating science, it is not by itself sufficient. The article describes how CIRM has established internal processes and procedures that aim to help accelerate projects in the race to the finish line. We are going to highlight a few of these in this post, but you can read about them in full by clicking on the article link here.
One example of accelerating the most promising projects was making sure that they make important steps along the way. For potential translational awards, which “translate” basic research into clinical trials, this means having existing data to support a therapeutic approach. For pre-clinical and clinical awards, it means meeting with the Food and Drug Administration (FDA) and having an active investigational new drug (IND) approved or pre-IND, important steps that need to be taken before these treatments can be tested in humans. Both of these measures are meant to ensure that the award is successful and progress quickly.
Another important example is not just giving these projects the funding in its entirety upfront, rather, tying it to milestones that guide a project to successful completion. Through this process, projects funded by CIRM become focused on achieving clear measurable objectives, and activities that detract from those goals are not supported.
Aside from requirements and milestones tied to funding, there are other ways that CIRM helps bolster its projects.
One of these is an outreach project CIRM has implemented that identifies investigators and projects with the potential to enhance already existing projects. This increases the number of people applying to CIRM projects as well as the quality of the applications.
Another example is CIRM’s Industry Alliance Program, which facilitates partnerships between promising CIRM-funded projects and companies capable of bringing an approved therapy to market. The ultimate goal is to have therapies become available to patients, which is generally made possible through commercialization of a therapeutic product by a pharmaceutical or biotechnology company.
CIRM has also established advisory panels for its clinical and translational projects, referred to as CAPs and TAPs. They are composed of external scientific advisors with expertise that complements the project team, patient advocate advisors, and CIRM Science Officers. The advisory panel provides guidance and brings together all available resources to maximize the likelihood of achieving the project objective on an accelerated timeline.
Lastly, and most importantly, CIRM has included patient advocates and patient voices in the process to help keep the focus on patient needs. In order to accelerate therapies to the clinic, funders and scientists need input on what ultimately matters to patients. Investing effort and money on potential therapies that will have little value to patients is a delay on work that really matters. Even if there is not a cure for some of these diseases, making a significant improvement in quality of life could make a big difference to patients. There is no substitute to hearing directly from patients to understand their needs and to assess the balance of risk versus benefit. As much as science drives the process of bringing these therapies to light, patients ultimately determine its relevance.
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.
Let’s face it, when you are feeling crummy all you want to do is be quiet, rest and not have to deal with anyone else. So, it’s not surprising that a new survey of people with primary mitochondrial disease (PMD) found that many were often less than enthusiastic about taking part in a clinical trial.
It’s not surprising because PMD, caused by problems with the mitochondria which provide energy within our cells, can lead to a wide variety of debilitating conditions including muscle weakness, visual problems, hearing problems, heart disease, liver disease, kidney disease, gastrointestinal disorders, breathing problems, neurological problems and dementia. Any one of those is bad enough, but if you combine several you can see why it would be hard for a person with PMD to get to a clinical trial site for an experimental therapy.
That’s unfortunate because right now there are no effective treatments for PMD so it’s vitally important that people take part in clinical trials that might lead to new therapies.
Obstacles and opportunities
Fortunately, this study, published in the journal PLOS One, did more than just identify the barriers to taking part in a clinical trial, it also identified some strategies to overcome those barriers.
The barriers included not just the individual’s state of health but also:
Requiring patients to discontinue current medications
Daily blood tests
Requiring patients to pay for the cost of the clinical trial
Ways to encourage increased participation include:
Direct communication with a physician involved in the trial
Better education and outreach to people with PMD
Working with patient advocacy groups
The study says this last point in particular is extremely important.
“We propose widespread, coordinated efforts that involve PMD patient advocacy groups to organize community education sessions that clarify the components and need for efficacious clinical trial design.”
CIRM CAP meeting
This is something that CIRM knows a lot about. Whenever we fund a clinical trial – or, in some cases a late stage pre-clinical program – we create a Clinical Advisory Panel (CAP) to support it. Each CAP consists of an independent, outside expert in whatever disease the trial is targeting, a CIRM Science Officer, and a Patient Advocate. The Patient Advocate plays a vital role in making sure this project works.
Researchers know the science, but the Patient Advocate knows what it is like to live with the disease and the limitations it may impose. They can help guide and advise the researchers on how to design a clinical trial that works for the patients and makes it as easy as possible for them to be part of the trial.
In the last few years we have created 68 CAPs, ensuring the voice of the patient, and the needs of the patient, are front and center in everything we do.
The easier it is for the patient, the easier it will be to recruit people for the trial and the more likely it is they will stay with the trial to the end. It won’t guarantee the therapy will succeed, but it gives it the best possible chance.
For every clinical trial CIRM funds we create a Clinical Advisory Panel or CAP. The purpose of the CAP is to make recommendations and provide guidance and advice to both CIRM and the Project Team running the trial. It’s part of our commitment to doing everything we can to help make the trial a success and get therapies to the people who need them most, the patients.
Each CAP consists of three to five members, including a Patient Advocate, an external scientific expert, and a CIRM Science Officer.
Having a Patient Advocate on a CAP fills a critical need for insight from the patient’s perspective, helping shape the trial, making sure that it is being carried out in a way that has the patient at the center. A trial designed around the patient, and with the needs of the patient in mind, is much more likely to be successful in recruiting and retaining the patients it needs to see if the therapy works.
One of the clinical trials we are currently funding is focused on severe combined immunodeficiency disease, or SCID. It’s also known as “bubble baby” disease because children with SCID are born without a functioning immune system, so even a simple virus or infection can prove fatal. In the past some of these children were kept inside sterile plastic bubbles to protect them, hence the name “bubble baby.”
Anne Klein is the Patient Advocate on the CAP for the CIRM-funded SCID trial at UCSF and St. Jude Children’s Research Hospital. Her son Everett was born with SCID and participated in this clinical trial. We asked Anne to talk about her experience as the mother of a child with SCID, and being part of the research that could help cure children like Everett.
“When Everett was born his disease was detected through a newborn screening test. We found out he had SCID on a Wednesday, and by Thursday we were at UCSF (University of California, San Francisco). It was very sudden and quite traumatic for the family, especially Alden (her older son). I was abruptly taken from Alden, who was just two and a half years old at the time, for two months. My husband, Brian Schmitt, had to immediately drop many responsibilities required to effectively run his small business. We weren’t prepared. It was really hard.”
(Everett had his first blood stem cell transplant when he was 7 weeks old – his mother Anne was the donor. It helped partially restore his immune system but it also resulted in some rare, severe complications as a result of his mother’s donor cells attacking his body. So when, three years later, the opportunity to get a stem cell therapy came along Anne and her husband, Brian, decided to say yes. After some initial problems following the transplant, Everett seems to be doing well and his immune system is the strongest it has ever been.)
“It’s been four years, a lot of ups and downs and a lot of trauma. But it feels like we have turned a corner. Everett can go outside now and play, and we’re hanging out more socially because we no longer have to be so concerned about him being exposed to germs or viruses.
His doctor has approved him to go to daycare, which is amazing. So, Everett is emerging into the “normal” world for the first time. It’s nerve wracking for us, but it’s also a relief.”
How Anne came to be on the CAP
“Dr. Cowan from UCSF and Dr. Malech from the NIH (National Institutes of Health) reached out to me and asked me about it a few months ago. I immediately wanted to be part of the group because, obviously, it is something I am passionate about. Knowing families with SCID and what they go through, and what we went through, I will do everything I can to help make this treatment more available to as many people as need it.
I can provide insight on what it’s like to have SCID, from the patient perspective; the traumas you go through. I can help the doctors and researchers understand how the medical community can be perceived by SCID families, how appreciative we are of the medical staff and the amazing things they do for us.
I am connected to other families, both within and outside of the US, affected by this disease so I can help get the word out about this treatment and answer questions for families who want to know. It’s incredibly therapeutic to be part of this wider community, to be able to help others who have been diagnosed more recently.”
The CAP Team
“They were incredibly nice and when I did speak they were very supportive and seemed genuinely interested in getting feedback from me. I felt very comfortable. I felt they were appreciative of the patient perspective.
I think when you are a research scientist in the lab, it’s easy to miss the perspective of someone who is actually experiencing the disease you are trying to fix.
At the NIH, where Everett had his therapy, the stem cell lab people work so hard to process the gene corrected cells and get them to the patient in time. I looked through the window into the hall when Everett was getting his therapy and the lab staff were outside, in their lab coats, watching him getting his new cells infused. They wanted to see the recipient of the life-saving treatment that they prepared.
It is amazing to see the process that the doctors go through to get treatments approved. I like being on the CAP and learning about the science behind it and I think if this is successful in treating others, then that would be the best reward.”
“We still have to fly back to the NIH, in Bethesda, MD, every three months for checkups. We’ll be doing this for 15 years, until Everett is 18. It will be less frequent as Everett gets older but this kind of treatment is so new that it’s still important to do this kind of follow-up. In between those trips we go to UCSF every month, and Kaiser every 1-3 weeks, sometimes more.
I think the idea of being “cured”, when you have been through this, is a difficult thing to think about. It’s not a word I use lightly as it’s a very weighted term. We have been given the “all clear” before, only to be dealt setbacks later. Once he’s in school and has successfully conquered some normal childhood illnesses, both Brian and I will be able to relax more.
One of Everett’s many doctors once shared with me that, in the past, he sometimes had to tell parents of very sick children with SCID that there was nothing else they could do to help them. So now to have a potential treatment like this, he was so excited about a stem cell therapy showing such promise.
One thing we think about Everett and Alden, is that they are both so young and have been through so much already. I’m hoping that they can forget all this and have a chance to grow up and lead a normal life.”
It’s not hard to find people who don’t like the US Food and Drug Administration (FDA), the government agency that, among other things, regulates medical therapies. In fact, if you type “do people like the FDA?” into an internet search engine you’ll quickly find out that for a lot of people the answer is “no”.
But the Agency is trying to change and deserves credit for taking seriously many of the criticisms that have been levelled at it over the years and trying to address them.
The latest example is the news that the FDA has set a date for the first-ever meeting of its first-ever Patient Engagement Advisory Committee (PEAC). On its website, the FDA says the PEAC will be focused on patient-related issues:
“The PEAC is a forum for the voice of patients. It will be asked to advise on complex issues related to medical devices and their impact on patients. The goal of PEAC is to better understand and integrate patient perspectives into our oversight, to improve communications with patients about benefits, risks, and clinical outcomes related to medical devices, and to identify new approaches, unforeseen risks or barriers, and unintended consequences from the use of medical devices.”
In the past, the FDA has created forums to allow patients to talk about the impact of a disease on their daily life and their views on treatment options. But those were considered by many to be little more than window dressing, providing a sounding boards for patients but not actually producing any tangible benefits or changes.
The FDA also has patient representatives who take part in FDA advisory committee meetings, but the PEAC is the first time it has ever had a committee that was solely focused on patients and their needs. The nine core members of the PEAC all have experience either as patients or patient advocates and care-givers for patients. A really encouraging sign.
We tip our CAP to the FDA
At CIRM we support anything that ensures that patients not only have a seat at the table, but also that their voices are heard and taken seriously. That’s why for every clinical trial we fund (and even some pre-clinical projects too) we create what we call a Clinical Advisory Panel or CAP (we do love our acronyms).
Each CAP consists of three to five members, with a minimum of one Patient Representative, one External Advisor and one CIRM Science Officer. The purpose of the CAP is to make recommendations and provide guidance and advice to the Project Team running the trial.
Having a Patient Representative on a CAP ensures the patient’s perspective is included in shaping the design of the clinical trial, making sure that the trial is being carried out in a way that has the patient at the center. Patients can ask questions or raise issues that researchers might not think about, and can help the researchers not only do a better job of recruiting the patients they need for the trial, but also keeping those patients involved. We believe a trial designed around the patient, and with the patient in mind, is much more likely to be successful.
In announcing the formation of the PEAC the FDA said:
“Patients are at the heart of what we do. It makes sense to establish an advisory committee built just for them.”
I completely agree.
My only regret is that they didn’t call it the Patient Engagement Advisory Committee for Health, because then the acronym would have been PEACH. And this is certainly a peach of an idea, one worthy of support.
The Stack family: L to R Alex, Natalie, Nancy & Jeff
Tennis great Martina Navratilova was once being interviewed about what made her such a great competitor and she said it was all down to commitment. When pressed she said “the difference between involvement and commitment is like ham and eggs; the chicken is involved but the pig is committed.”
That’s how I feel about the important role that patients and patient advocates play in the work that we do at CIRM. Those of us who work here are involved. The patients and patient advocates are committed. This isn’t just their life’s work; it’s their life.
I was reminded of that last week when I had the privilege of talking with Nancy Stack, the Patient Representative on a Clinical Advisory Panel (CAP) we have created for a program to treat cystinosis. She has an amazing story to tell. But before we get to that I have to do a little explaining.
Cystinosis is a rare disease, affecting maybe only 2,000 people worldwide, that usually strikes children before they are two years old and can lead to end stage kidney failure before their tenth birthday. Current treatments are limited, which is why the average life expectancy for someone with this is only around 27 years.
When we fund a project that is already in, or hoping to be in, a clinical trial we create a CAP to help assist the team behind the research. The CAP consists of a CIRM Science Officer, an independent scientific expert in this case for cystinosis, and a Patient Representative.
The patient’s voice
The Patient Representative’s role is vital because they can help the researchers understand the needs of the patient and take those needs into account when designing the trial. In the past, many researchers had little contact with patients and so designed the trial around their own needs. The patients had to fit into that model. We think it should be the other way around; that the model should fit the patients. The Patient Representatives help us make that happen.
Nancy Stack did just that. At the first meeting of the CAP she showed up with a list of 38 questions that she and other families with cystinosis had come up with for the researchers. They went from the blunt – “Will I die from the treatment” – to the practical – “How will children/teens keep up with school during the process?” – and included a series of questions from a 12-year old girl with the disease – “Will I lose my hair because I’ve been growing it out for a long time? Will I feel sick? Will it hurt?”
Nancy says the questions are not meant to challenge the researcher, in this case U.C. San Diego’s Stephanie Cherqui, but to ensure that if the trial is given the go-ahead by the US Food and Drug Administration (FDA) that every patient who signs up for it knows exactly what they are getting into. That’s particularly important because many of those could be children or teenagers.
“As parents we know the science is great and is advancing, but we have real people who are going to go through this treatment so we have a responsibility to know what will it mean to them. Patients know they could die of the disease and so this research has real world implications for them.”
“I think without this, without allowing the patients voice to be heard, you would have a hard time recruiting patients for this kind of clinical trial.”
Nancy says not only was Dr. Cherqui not surprised by the questions, she welcomed them. Dr. Cherqui has been supported and funded by the Cystinosis Research Foundation for years and Nancy says she regards the patients and patient advocates as partners in this journey:
“She knows we are not challenging her, we’re supporting her and helping her cover every aspect of the research to help make it work.”
Nancy became committed to finding a cure for cystinosis when her daughter, Natalie, was diagnosed with the condition when she was just 7 months old. The family were handed a pamphlet titled “What to do when your child has a terminal disease” and told there was no cure.
In 2003, on the eve of her 12th birthday, Nancy asked Natalie what her wish was for her birthday. She wrote on a napkin “to have my disease go away forever.” The average life expectancy for people with cystinosis at that point was 18. Nancy told her husband “We have to do something.”
They launched the Cystinosis Research Foundation and a few weeks later they held their first fundraiser. That first year they raised $427,000, an impressive amount for such a rare disease. Last year they raised $4.94 million. Every penny of that $4.94 million goes towards research, making them the largest funders of cystinosis research in the world.
“We learned that for there to be hope there has to be research, and to do research we needed to raise funds. Without that we knew our children would not survive this disease.”
Natalie is now 26, a graduate of Georgetown and USC, and about to embark on a career in social work. Nancy knows many others are not so fortunate:
“Every year we lose some of our adults, even some of our teens, and that is unbelievably hard. Those other children, wherever they may live, they are my children too. We are all connected to each other and that’s what motivates me every day. Having a child with this disease means that time is running out and there must be a commitment to work hard every day to find a cure, and never giving up until you do.”
That passion for the cause, that compassion for others and determination to help others makes the Patient Representative on the CAP so important. They are a reminder that we all need to work as hard as we can, as fast as we can, and do everything we can to help these trials succeed.
Battling a deadly disease like cancer or Alzheimer’s is difficult; but battling a rare and deadly disease is doubly so. At least with common diseases there is a lot of research seeking to develop new treatments. With rare diseases there is often very little research, and so there are fewer options for treatment. Even just getting a diagnosis can be hard because most doctors may never have heard about, let alone seen, a case of a disease that only affects a few thousand individuals.
That’s why the last day of February, every year, has been designated Rare Disease Day. It’s a time to raise awareness amongst the public, researchers, health professionals and policy makers about the impact these diseases have on the lives of those affected by them. This means not just the individual with the problem, but their family and friends too.
There are nearly 7,000 diseases in the U.S. that are considered rare, meaning they affect fewer than 200,000 people at any given time.
No numbers no money
The reason why so many of these diseases have so few treatment options is obvious. With diseases that affect large numbers of people a new treatment or cure stands to make the company behind it a lot of money. With diseases that affect very small numbers of people the chances of seeing any return on investment are equally small.
Fortunately at CIRM we don’t have to worry about making a profit, all we are concerned with is accelerating stem cell treatments to patients with unmet medical needs. And in the case of people with rare diseases, those needs are almost invariably unmet.
As in everything we do our involvement is not just about funding research – important as that is – it’s also about engaging with the people most affected by these diseases, the patient advocate community. Patient advocates help us in several ways:
Collaborating with us and other key stakeholders to try and change the way the Food and Drug Administration (FDA) works. Our goal is to create an easier and faster, but no less safe, method of approving the most promising stem cell therapies for clinical trial. With so few available treatments for rare diseases having a smoother route to a clinical trial will benefit these communities.
Spreading the word to researchers and companies about CIRM 2.0, our new, faster and more streamlined funding opportunities to help us move the most promising therapies along as fast as possible. The good news is that this means anyone, anywhere can apply for funding. We don’t care how many people are affected by a disease, we only care about the quality of the proposed research project that could help them.
Recruiting Patient Advocates to our Clinical Advisory Panels (CAPs), teams that we assign to each project in a clinical trial to help guide and inform the researchers at every stage of their work. This not only gives each project the best possible chance of succeeding but it also helps the team stay focused on the mission, of saving, and changing, people’s lives.
Helping us recruit patients for clinical trials. The inability to recruit and retain enough patients to meet a project’s enrollment requirements is one of the biggest reasons many clinical trials fail. This is particularly problematic for rare diseases. By using Patient Advocates to increase our ability to enroll and retain patients we will increase the likelihood a clinical trial is able to succeed.
Organizing to fight back
There are some great organizations supporting and advocating on behalf of families affected by rare diseases, such as the EveryLife Foundation and the National Organization for Rare Diseases (NORD). They are working hard to raise awareness about these diseases, to get funding to do research, and to clear away some of the regulatory hurdles researchers face in being able to move the most promising therapies out of the lab and into clinical trials where they can be tested on people.
For the individuals and families affected by conditions like beta thalassemia and muscular dystrophy – potentially fatal genetic disorders – every day is Rare Disease Day. They live with the reality of these problems every single day. That’s why we are committed to working hard every single day, to find a treatment that can help them and their loved ones.