Summer 2017 Newsletter

June 01, 2017

Dear Champ supporters,

Here is The Champ Foundation’s Summer 2017 newsletter. We have incredibly exciting news about newly funded research projects, updates about Dr. Suneet Agarwal’s work at Boston Children’s and LOTS of information about upcoming fundraising events (See #22for2). We hope you enjoy reading as much as we enjoy sharing!

Research projects

The Champ Foundation is SO proud to announce funding for two research grants that aim to find treatment and a cure for Pearson Syndrome in the near term. Here are details on the two projects:

Project Title: Treatments and models for diseases caused by mitochondrial deletions

Principal Investigators: Michal Minczuk and Payam Grammage

Institution: University of Cambridge

Direct cost: $100,000 over two years

Lay Abstract: Mitochondria are cellular structures that provide energy from food that cells can use. They also contain DNA, called mtDNA. Intact mtDNA is vital for healthy functioning of the cell. Genetic mutations in mtDNA, where a single DNA building block is changed, or a part of mtDNA is deleted, can lead to human diseases, often affecting brain, heart, bone marrow and muscles. There are no treatments for these diseases. Our approach to treatment of mtDNA diseases is to design proteins that can specifically eliminate only the mutated mtDNA, curing patients’ cells. We have already achieved this goal using in vitro models of mtDNA disease. The essential next step in bringing these proteins to the clinic is to test them in the types of cells that are affected in patients (neurons, muscle cells or blood cells) and in a living organism (in vivo). Therefore, in the first part of the proposed research, it is our intention to generate neurons, muscle cells or blood cells from patient skin cells that lack a fragment of mtDNA, into which we will administer therapeutic proteins. We expect that our intervention will improve the function of these cells, providing important pre-clinical data on the safety and efficacy of our approach. In the second part of of our planned research, we intend to develop a DNA-editing tool enabling us to cut mtDNA fragments at will. Such a tool could be used in the future to produce animals with deleted mtDNA that would develop disease symptoms similar to human patients. These model organisms can be used to further test our therapeutic proteins and other drugs, providing the vital pre-clinical data required to take the next steps towards the use of experimental therapeutic strategies in humans.

Project title: CD34+ cells enriched with blood cells derived healthy mitochondria as a treatment for Pearson Syndrome

Principal Investigators: Amos Toren, Natalie Yivgi Ohana, Elad Jacoby, Ann Saada

Institution: Sheba Medical Center Direct cost: $130,000 over one year

Lay abstract: A collaboration between hematologists from Sheba Medical Center (Prof. Amos Toren and Dr. Elad Jacoby), mitochondria-scientist from Hadassah-Hebrew University Medical Center (Prof. Ann Saada) and a researcher from a biotechnology company in Israel (Dr. Natalie Yivgi Ohana) has created a scientific research plan to bring a novel therapeutic approach to Pearson Syndrome. The technology, developed by Minovia Therapeutics over the past 6 years, is based on transplantation of normal mitochondria in patient’s stem cells. The patient’s own bone-marrow cells would be carriers of normal mitochondria from a donor (without deletions) and would carry normal mitochondria to other tissues through the blood stream. The group will first conduct animal studies to show the effect of such treatment on mice harboring a mitochondrial DNA mutation and use the results to apply to the FDA for a formal clinical trial.

Research updates at Boston Children’s

Here is the most up-to-date information about the ongoing research happening at Boston Children’s Hospital in Dr. Suneet Agarwal’s lab:

Mitochondrial genome editing for Pearson syndrome: The goal of this project is to innovate genome editing technologies that selectively target and deplete the mutant mitochondrial DNA (mtDNA) in patients with Pearson syndrome (PS). With the support of The Champ Foundation, the Agarwal lab has re-initiated and advanced research on developing these tools that could lead to a cure for Pearson Syndrome. Specifically, funding in this period enabled onboarding of staff (a post-doctoral associate and research assistant) dedicated to research on PS. Their effort has been focused on developing and testing mitoTALEN and CRISPR/Cas9 technologies that target mtDNA, as well as generating cell lines from several PS patients that will be critical for testing these genome editing tools prior to clinical application. The long-term goal of the Agarwal Lab is to move the most promising genome editing technologies into clinical practice for patients with PS. Support from The Champ Foundation is instrumental in our continued pursuit of this goal.

Fundraising

In order to fund these additional projects and continue supporting Dr. Agarwal’s work highlighted above, our goal is to raise $80,000 between now and April 2018. With #ChampStrong supporters like you, we know we can do it! Here’s how:

1. #22for2

We are organizing a 22-day fundraising campaign from June 1 to June 22. In honor of William’s 2nd birthday on June 22nd, we are asking our supporters to donate $22 (or $122? $222? $322?) to our online CrowdRise campaign. We have a huge, 22-day goal of $6,222! Starting June 1, we will be posting every day about Pearson Syndrome, William and The Champ Foundation on Facebook and CrowdRise. Check out Facebook if you would like to follow along and CrowdRise to donate. (You are welcome to send a check instead of donating online and still contribute to our goal! Please send a check to 2712 Little Rogers Road Durham NC 27704 before June 22 with #22for2 in the memo. We can easily add offline donations to our CrowdRise campaign.)

(You are welcome to send a check instead of donating online and still contribute to our goal! Please send a check to 2712 Little Rogers Road Durham NC 27704 before June 22 with #22for2 in the memo. We can easily add offline donations to our CrowdRise campaign.)

2. Buffalo Revolution Indoor Cycling event

Join us 6/3/17 at 1:00pm at Revolution Indoor Cycling in Buffalo.

To reserve a seat, follow these steps: 1. Register here to reserve a seat 2. Venmo a donation to @TheChampFoundation (Revolution Indoor Cycling suggests a minimum of $20 donation). If you don't have Venmo, you can bring a donation the day of the event!

3. Buffalo Event

Last year, the Buffalo community shattered all expectations and raised over $70,000 to help find a cure for Pearson Syndrome. The amazing group of dedicated #ChampStrong supporters has begun planning an event for early fall. Reach out to [email protected] to get involved. Lots more details to come.

4. Host a fundraiser!

Run a marathon (or half, 5k or mile!). (Champ supporters ran in the Tar Heel 10 miler and raised over $1300!)

Garage sales (Ashlyn, a little girl in Utah with Pearson Syndrome, and her family raised over $2,000 with a garage sale!)

Concerts (The Graduate School Association at the University of North Carolina at Chapel Hill hosted a concert at a local bar and raised over $700!)

• Be creative! (Champ supporters in Siesta Key held a Paddle boarding race and raised over $4,000; Four young Champ supporters held their birthday party in honor of The Champ Foundation and raised over $1,500; The Brooklyn Cyclones had a Champ night and raised over $700; Two high schools in Buffalo participated in dress down days and raised over $700; Syracuse University Delta Gamma sorority sold mid-night nachos and raised over $1,500; The Duke MBA Class of 2017 hosted a CrowdRise page and raised over $1,000)

5. Shop Amazon Smile for The Champ Foundation

Amazon Smile is a simple, no-cost and automatic way to support The Champ Foundation while you shop! Amazon donates 0.5% to the foundation of every eligible purchase. Simply click this link and connect your Amazon account to support The Champ Foundation. So far, we have already raised $200 through Amazon Smile and it’s really got to be the easiest way to support The Champ Foundation!

6. Gear

We are selling green Champ gear! We have short and long sleeved t-shirts, tanks, sweatshirts, coffee mugs and stickers! See our online store for adults and kids. We also have limited quantities of baseball hats and rubber green bracelets. Please email [email protected] if you would like a baseball hat ($20) or bracelet ($5). We will put them in the mail ASAP!

Media

The Champ Foundation released a press release after we funded the research projects at Sheba Medical Center and the University of Cambridge. We were fortunate to gain local attention through the Durham ABC11 station. You can see the video clip here. Our support has also been highlighted on the Mitochondrial Biology Unit’s website here and the NIH’s Genetic and Rare Disease Information Center’s website here.

Champ update

William is continuing to exceed all expectations. He hasn’t needed a red blood transfusion since August 2016 and has had relatively stable platelets and white blood counts.

Many days it’s easy to not think about his diagnosis. He is so normal! He is a chatty, Minion-loving two-year old. He has a hilarious sense of humor and definitely knows it. He loves the science museum, loves to play outside, and loves chocolate ice cream. But, too often we are reminded that our “normal” is anything but. We go to the science museum, but don’t let him play with the indoor toys because of the fear of him catching germs. We play with him outside all day long, but always with a hat and 60+ sunscreen because antibiotics have made his skin is so sensitive to the sunlight. We take him out for ice cream, but don’t get too upset when he doesn’t eat more than two bites.

A few weeks ago William caught a cold. During this time, he never had a fever, never was uncomfortable or in pain, and was never drowsy or grumpy. But, we still spent hours on the phone with genetics, hematology/oncology, and his pediatrician deciding whether or not to take him to the emergency room. We had to balance the pros of being at the hospital (i.e., getting necessary medicine and fluids to prevent dehydration) with the cons (i.e., potentially unnecessary IV, hospital germs). We decided to keep him home and monitor. While we are pretty confident we made the right decision, we realized a week later that he had dropped an entire pound in five days! The runny nose made it harder than normal for him to eat, and he obviously did not get enough calories. While he has slowly gained some of the weight back, this experience was a brutal reminder about how far from normal we are. A simple, viral cold almost sent us to the hospital and had long-lasting negative effects on his precariously increasing weight.

Overall, we are cautiously thrilled with his current medical condition and hope/pray/beg/wish it continues for as long as possible.

Thank you

As always, we thank you for joining our fight against Pearson Syndrome. The fight is long and we are not there yet, but we are confident these new research projects will bring us closer to treatment and a cure for Pearson Syndrome. We are so lucky to have you in our corner.

Love,

Elizabeth and Jeff Reynolds

Co-Founders, The Champ Foundation

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