From trauma to treatment: a Patient Advocate’s journey from helping her son battle a deadly disease to helping others do the same

Everett SCID 1

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.”

Everett SCID family

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.”

Everett SCID in hospital

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.”

The future:

“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.”

Advertisements

FDA creates a forum for patients to guide its decision making

FDA

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.

Related Links:

 

 

 

Rare Disease Day, a chance to raise awareness and hope.

logo-rare-disease-day

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.

That’s why over the years we have invested heavily in diseases that are often overlooked because they affect relatively small numbers of people. In fact right now we are funding clinical trials in several of these including sickle cell anemia, retinitis pigmentosa and chronic granulomatous disease. We are also funding work in conditions like Huntington’s disease, ALS or Lou Gehrig’s disease, and SCID or “bubble baby” disease.

Focus on the people

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.

CIRM CAP Kickoff to New Clinical Trials

Alisha Bouge is the project manager for CIRM’s Clinical Advisory Panels (CAPs)

On the cusp of the official kickoff to football season, CIRM has had its own kickoff to celebrate.  The first Clinical Advisory Panel (CAP) meeting took place on August 18, 2015 in Irvine, CA with Caladrius Bioscience, Inc.  And just as every NFL team starts the season hopeful of a Super Bowl win, all our CAPs start out with equally lofty goals. That’s because under CIRM 2.0, the role of the CAP is to work with the clinical stage project teams we fund to help accelerate the development of therapies for patients with unmet medical needs and to give these projects the greatest likelihood of success.

In the case of Caladrius, the work is focused on treating metastatic melanoma, an aggressive and deadly form of skin cancer. You can read more about this clinical trial here.

Obstacles and challenges are inevitable in the lifecycle of research. CIRM hopes to help its grantees navigate through these hurdles as quickly and positively as possible by providing recommendations from expert advisors in the field.  The intention is for the CAP meeting process to be that navigating vessel throughout the lifetime of each clinical stage project.

The CAPs will include at least three members: one CIRM science officer, a patient representative, and an external scientific advisor.  The CAP will meet with the project team approximately four times a year, with the first meeting taking place in-person.  Consider the CAP as the grantee’s special team, doing all they can to get that two-point conversion at the end of an already successful outcome, giving the grantee and their team just a few more points in their pocket to reach the ultimate success.

CAP1

CIRM CAP on a tour of Caladrius’ facility in Irvine, CA.  The CIRM CAP can be seen in the far right of the photo (left to right) Randy Lomax (Patient Representative), Ingrid Caras (CIRM Sr. Science Officer), and Hassan Movahhed (External Scientific Advisor).

As the lead Science Officer on this first CAP, CIRM’s Ingrid Caras stated: “This is our opportunity to be good stewards of the taxpayers’ money.”

The mission and the message of the CAP was well received by Caladrius.  After the CAP meeting, Anna Crivici, VP of Operations & Program Management at Caladrius, had this to say about her experience:

anna crivici

Anna Crivici, Caladrius

I thought that the meeting was very productive.  Everyone on the Caladrius team appreciates the collaborative approach CIRM is taking on the program, as amply demonstrated during our successful first meeting.  The discussion on every agenda topic was helpful and insightful.  The opportunity to better understand the patient perspective will be especially beneficial and increasingly important as the Phase 3 program progresses.  We are confident that this and future CAP meetings will help us advance and refine our strategic planning and execution.

CAP2

CIRM CAP and members of Caladrius discussing operational strategies for success.

CIRM is looking forward to the 2015/2016 CAP season. And while there is no Super Bowl incentive at the end of our season, there is the hope that CIRM’s efforts, both financially and collaboratively, will contribute to successful treatments for so many out there in need. That’s something well worth cheering for.