Childhood Cancer

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Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome is a congenital growth disorder that cause large body size, large organs and other symptoms. It can increase a child’s risk of certain childhood cancers including Wilms’ tumor and hepatoblastoma.

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Latest Beckwith-Wiedemann Syndrome grants

Jennifer Kalish, MD, PhD, Principal Investigator
University of Pennsylvania
Young Investigator Grants, Awarded 2013

Latest Beckwith-Wiedemann Syndrome blog posts

December 14, 2018

by Trish Adkins

Children with certain types of hard-to-treat childhood cancers just got another huge dose of hope. Last week, the U.S. Food and Drug Administration (FDA) granted accelerated approval to a drug called Vitrakvi (also known as larotrectinib), making the treatment available to children with cancers that are NTRK fusion-positive. 

NTRK is a gene that is present in certain types of pediatric cancers, as well as some adult cancers.

ALSF funded-researcher Dr. Steven DuBois at Dana-Farber Cancer Institute played a critical role in the research that led to the breakthrough. In a clinical trial led by Dr. DuBois over 75-percent of patients treated with larotrectinib responded positively to the drug and their tumors either shrunk or disappeared. 

“Our goal is to make discoveries and disseminate these discoveries, especially when there is a therapy with such a high response rate and tolerability,” said Dr. DuBois.

The trial was held at multiple sites, including Dana-Farber Cancer Institute, which ALSF funds through its Center of Excellence (COE) program. Dr. DuBois, together with Dr. Wendy London, managed the ALSF grant funds to help sustain the infrastructure of the Developmental Therapeutics Center, collaborate with other institutions, train physician scholars in drug development and build a pediatric oncology developmental therapeutics program. The center actively participates in over 100 oncology studies at any given time.

Each of the patients in the larotrectinib trial had cancers that had the NTRK gene present. NTRK occurs when genes fuse together abnormally, resulting in the growth of abnormal cells, which become cancer. While NTRK is rare, it does occur across a range of cancer types including infantile fibrosarcoma, soft-tissue sarcoma and types of colon, lung and thyroid cancers. 

Prior to the FDA approval of larotrectinib, children with this type of cancer had no effective options for treatment.

This is the second time the FDA has approved a cancer treatment based on a common genetic feature across different types of cancer rather than the specific tumor type. The approval marks a continued effort to develop treatment protocols that could work for several different types of cancer—versus the old paradigm where cancer was treated based on the type rather than the genetic marker.

In Dr. DuBois’ trial, a total of 55 patients, ranging in age from 4 months to 76 years were treated. His findings were published in the February 22, 2018 edition of the New England Journal of Medicine. The article, “Efficacy of Larotrectinib in TRK Fusion-Positive Cancers in Adults and Children,” concluded that larotrectinib, had marked durable anti-tumor activity in patients with TRK fusion-positive cancer, regardless of the age of the patient or of the tumor type. The findings led to the recent FDA approval of the drug. The full article is available here

In addition to the support from ALSF, the trial was supported by Loxo Oncology and by grants from the National Institutes of Health, the Cancer Prevention and Research Institute of Texas and the National Center for Advancing Translational Sciences.

About the ALSF Center of Excellence grants program 
ALSF supports the advancement of clinical trials through its entire research grant program. By funding all stages of research from early career to advanced laboratory studies to our clinical trial programs, ALSF ensures that the breakthrough science happens now, so children can have cures for tomorrow.

Center of Excellence grants are given to institutions over a 5-year period to support research as well as the acceleration of clinical trials through funding for infrastructure needs and training the next generation of research scholars. In addition to Dana-Farber Cancer Institute, ALSF funds Children’s Hospital of Philadelphia, University of California San Francisco and Baylor College of Medicine through the Center of Excellence grant program.

This year, the four-Center of Excellence institutions announced the opening of a multi-site phase 1 clinical trial for a drug that shows promise for reactivating a gene that typically acts as a tumor suppressor. Called p53, the gene is often missing or mutated in several types of resistant childhood cancers including lymphoma, refractory leukemia, Ewing sarcoma, rhaboid tumors, retinoblastoma, hepatoblastoma and other cancers.  Subscribe to the ALSF blog for more details on this Phase 1 study. 

December 3, 2018

by Adam Paris

Eden is a 13 year old who loves to shoot photos and smile for her own snapshots. After being unable to walk or practice her favorite activity, dancing, for nearly a year, she was diagnosed at age 10 with a cancer no doctor had ever seen before. They tried standard chemotherapies for two different types of solid tumors similar to her cancer and after many months doctors deemed her cancer-free in March 2016.

Two years later, the cancer relapsed in her shoulder. Now, she and her tight-knit family continue to fight the cancer they named after her, Eden’s tumor, while waiting for a potential cure. 
As researchers learn more about Eden’s cancer, we wanted to give you a glimpse into Eden, the person. Check out our conversation below to learn more about this inspirational cancer fighter. 

ALSF: If you could have a superpower, what would it be and why?
Eden Green (EG): I would like to fly and be invisible. Flying is cool, but also scary. I like invisibility because I could hear conversations without being noticed in the other room. 

ALSF: What’s your go-to song to sing?
EG: I like to sing Francesca Battistelli. She’s a Christian artist so I sing her songs a lot, and then Lauren Daigle too. 

ALSF: I know you love taking photos! What do you like to photograph? 
EG: I like shooting nature a lot. I do a lot of flowers and nature shots and they turn out pretty good actually. 

ALSF: What is your favorite 2018 memory so far?
EG: My family went on a cruise in January. We went to Cozumel, Jamaica and Puerto Rico. I didn’t get to do as much this year because of my relapse. 

ALSF: What do you want to be when you grow up?
EG: It changes, but I kind of want to be a travel agent like my mom. I changed my mind from nursing because I don’t really want to do that anymore. Maybe a social worker at the hospital, but I don’t even know if I want to work at the hospital.

ALSF: What did you miss most while you were in treatment?
EG: I missed church, and we go to church a lot, so I missed going there. I like to see my friends and everything, so I didn’t get to see them really when I was diagnosed again. That was hard. I got to spend a little bit of my summer with my friends though, especially my one friend Rachel. She’s at my house like every day. I also missed going on trips that I was supposed to go on. 

ALSF: How has your family supported you?
EG: I don’t know, I’m asleep most of the time! My whole family is really funny though, but my dad he’s really funny. He’ll pull up things like the In My Feelings challenge videos to cops lip syncing stuff so he’ll watch those and start dying from laughter!
My sister Mya provides entertainment and my mom does too. Mom has to get her Fitbit steps in. When doctors come to help me I say, “Okay mom, you get your Fitbit steps in.”

ALSF: What does Mya do that helps you out? 
EG: She’s a competitive gymnast, so that helps me because I’m at the gym almost every day with her, watching their whole team. They practice every day for three hours. Most of the time before I relapsed, I was on the floor encouraging them during their routines. I actually got an award for being their team mascot. I’m like their group’s big sister because their siblings usually don’t come and watch them, so I’m always there. 

ALSF: What advice do you have for kids with cancer in the hospital?
EG: Stay strong and you’ll get through it. I’ve done it once and I’m doing it a second time so you can do it, I know you can. Keep having your faith and keep doing what you’re doing to help get through it.  

Our Q&A with Eden is the first in a series about her incredible story. Stay tuned next week for a discussion with her doctor, ALSF-funded researcher Dr. Jennifer Foster. 

YOU CAN MAKE A DIFFERENCE for children, like Eden, who want more opportunities to receive potentially lifesaving treatments and hope for a brighter, healthier future.

YOUR GIFT will fund the most promising, innovative scientific projects with the likelihood of making an impact.

YOUR SUPPORT allows Alex’s Lemonade Stand Foundation to continue to fund researchers around the country to develop less-toxic treatments and more cures for kids with cancer.

DONATE, today. 





November 29, 2018

by Trish Adkins

In September, Alex’s Lemonade Stand Foundation (ALSF) called over 90 top scientists, pediatric oncologists and researchers from around the world to gather in Philadelphia to discuss the big question:

How can we cross the finish line and find cures for all children fighting cancer?

The meeting kicked off the Crazy 8 Initiative—ALSF’s commitment to identifying obstacles, knocking down roadblocks and developing a comprehensive, achievable plan to foster research, collaborate and accelerate cures for all children

For a long time, the childhood cancer world has focused on the major obstacle—lack of funding for research. Less than 4-percent of the federal cancer research budget is allocated to childhood cancers—requiring support from private foundations to make research possible. 

However, if money was no object, what else gets in the way of finding cures for the 36 children who are diagnosed with one of the hundreds of types of childhood cancer every day in the U.S.? 

That is what the 90 researchers participating in the Crazy 8 Initiative began to answer.

What is the Crazy 8?

“All of us in this room have a fire in our belly and a need to make things change,” said Dr. Nada  Jabado, of McGill University and co-chair of the Crazy 8 Initiative, at the opening session of the three-day meeting. 

The meeting consisted of working groups tackling one of eight areas of pressing concern in the pediatric oncology world. Six groups discussed hard-to-treat cancers—neuroblastoma, embryonal brain cancers, high grade gliomas, fusion positive sarcomas, fusion negative sarcomas and leukemia. The other two groups discussed umbrella topics that affect all types of childhood cancer treatment and research—the use of big data and the acceleration of clinical trials. 

Through small group discussions and full-session cross-topic talks, the researchers identified major obstacles to progress, most notably the need for more high-quality models for testing treatments as well as identifying more genetic drivers of cancer.

“Discovery and research are critical. While we make progress every day, we’ve probably discovered less than 1-percent of all targets,” said Dr. John Maris, of Children’s Hospital of Philadelphia and co-chair of the Crazy 8 Initiative. Dr. Maris is referring to the specific genes, mutations and other biological traits that make cancer develop and grow. By identifying those targets, doctors could match therapies that kill the drivers and in turn, stop the cancer. 

But, there is still work to be done to get there. Members of each working group are currently finalizing the first plan to tackle these eight areas. The phase one plans will be available in December 2018. Then specific grant projects will be developed for funding and ALSF can begin to follow the Crazy 8 roadmap straight toward the destination we all dream of: cures. 

Born from Alex’s Legacy. 
The idea for the Crazy 8 Initiative was born from the legacy ALSF founder Alexandra “Alex” Scott left for all of us. Alex was treated for neuroblastoma nearly her entire life. When one treatment left Alex feeling good for the first time that she could remember, she told her parents that she wanted to host a lemonade stand to help her hospital make other kids feel better, too. 

After that lemonade stand, Alex felt even more dedicated to helping kids like her. When her mother, Liz Scott, suggested that the money raised go toward neuroblastoma research, Alex replied: “But mom that would be selfish.”

Alex knew that all children needed cures. Her legacy compels ALSF to make that dream a reality. You can support the Crazy 8 Initiative and follow along here.