June 2023                                                                            Volume 34, Issue 6

On June 19th, the Batten Disease Support, Research, & Advocacy (BDSRA) Foundation announced the hiring of Dr. Ineka Whiteman, who will serve as the organization’s Head of Research & Medical Affairs.

Watch the video announcement below featuring Dr. Whiteman and BDSRA Foundation President & CEO Amy Fenton Parker.

In this role, Dr. Whiteman will oversee the Foundation’s research investment and grant process for all Batten disease CLN types to ensure the organization fosters and supports the best possible research into Batten disease in the United States and internationally. Dr. Whiteman will also be exploring and identifying opportunities for new research avenues and partnerships and working with industry partners on research pipelines and clinical program opportunities.

Learn more about Dr. Ineka Whiteman by clicking the button below, including her background, job duties, and more in this Q&A article!

Welcome to the team, Ineka!

Watch as colleagues Dr. David Pearce, Dr. Jonathan Cooper, Dr. Joanna Nightingale, and Dr. Fernanda Leal-Pardinas congratulate and give their best wishes to BDSRA Foundation’s new Head of Research & Medical Affairs, Dr. Ineka Whiteman.

A special thank you to Drew’s Hope, Beyond Batten Disease Foundation, Warren & Brenda Pfohl, and all our donors. Without your help and commitment to BDSRA’s vision of a World Without Batten, the hiring of Dr. Whiteman would not have been possible. BDSRA thanks you for investing in our mission.

Together, we are Batten Advocates For A Cure. 

TONIGHT IS THE LAST CHANCE TO REGISTER AND CANCEL!

Register to attend the 2023 BDSRA Annual Family Conference in Denton, TX in person or virtually by tonight, Friday, June 30th, at midnight EST. Tonight is also the deadline to cancel your reservation and receive a full refund.

Pet therapy, Ask-A-Doc panel, SIBs outings, research and advocacy updates — don’t miss these and more at the 2023 BDSRA Annual Family Conference, July 14-16.

Take these steps today: 1.) Register for the conference. 2.) Make reservations at the Embassy Suites by Hilton Denton Convention Center, 3100 Town Center Trail, Denton, TX 76201, 940-243-3799.

Introducing this year’s BDSRA Annual Family Conference keynote speaker, Effie Parks!

Effie, a rare disease mother, is the creator and host of the Once Upon A Gene podcast. We are excited to welcome Effie to Denton, Texas, and meet the Batten community!

Watch this recent #ToolboxTuesday video on the left of BDSRA Office Manager Linda Barkhurst and Database Manager Noah Siedman filling you in on two important announcements for next month’s BDSRA Annual Family Conference in Denton, TX regarding car magnets for sale and a tutorial guiding you through setting up and managing memorial pages to remember and honor those who have passed away from Batten disease.

Jeni Montavon

Jeni Montavon, a SIBs leader, attended her first BDSRA Annual Family Conference in Toronto back in 2002. Her role has since evolved into ensuring new and returning SIBs have the best possible conference experience.

Dr. Ineka Whiteman

BDSRA’s new Head of Research & Medical Affairs Dr. Ineka Whiteman shares what made last year’s Annual Family Conference so special and gives a sneak peek at what to expect from the research sessions next month in Denton, Texas.

Brock Benroth

At last year’s BDSRA Family Conference in Cleveland, bereaved Batten father, Brock Benroth, assisted first-time conference attendees Gina Hubsch and her daughter Scarlett. Offering support to Batten families brings Brock back to the conference each year.

💲5️⃣3️⃣,6️⃣3️⃣0️⃣.7️⃣9️⃣

..…and still counting!

You raised funds for International Batten Disease Awareness Day and delivered for the Batten community and BDSRA. To everyone who donated, advocated, ran or walked in the virtual 5K, and participated in any way they could, from the bottom of our hearts, THANK YOU! 💜

View the complete donor list below.

Florida Congressman Aaron Bean introduced a bipartisan resolution supporting the June 9th designation as “Batten Disease Awareness Day.” Although June 9th has passed, we encourage our Batten community to contact their representatives and urge them to support this resolution. BDSRA thanks Board Secretary Donna Fogle and Congressman Bean for leading this charge.

We ❤️ NY! Thanks to BDSRA Board Treasurer Fred Surrey and NY State Senator Andrew Lanza, a resolution was signed to declare June 9th as Batten Disease Awareness Day in New York! BDSRA expresses its gratitude and appreciation to the Surrey family and Senator Lanza for their efforts.

As you continue to sport your International Batten Disease Awareness Day T-shirts, get to know the winner of this year’s T-shirt design contest, Kris Bonagofsky! Kris, a Batten grandmother, details her inspiration for the design and how she raises awareness.

Watch the video and click the button below to learn more about Kris and her family’s Batten journey.

BDSRA President & CEO Amy Fenton Parker (left) pictured with former BDSRA Executive Director Margie Frazier (right). 

June 9th, 2023 marked the fifth anniversary of the 1st International Batten Disease Awareness Day that took place back in 2018.

Former BDSRA Executive Director Margie Frazier spoke about how she’s seen June 9th evolve from its beginnings to where it is today.

“I think it was a good and positive beginning. I don’t think there was a rousing outpouring for it, because I think anytime you have something new like that, it’s going to take some time to warm up and look where we are now,” Frazier said. “And so I think that’s the lesson in it. If you’re going to have a lesson in any of this is just be bold, and do it. And over time, interest will grow if you keep nurturing it.”

The Batten community’s strong connection is worldwide, and that international partnership continues to grow over time.

“Anytime any of us needed anything across the world in any of these spots, everybody was at the ready,” Frazier said regarding BDSRA and its international partners.

The Ohio Farm Bureau Federation of Hocking County raised $1,251.77 through a tractor drive, car show, and pancake breakfast, in memory of Westley McKinley and in honor of Kyndel Roop – two local Batten patients. Westley passed away on October 4, 2022, at 16 years old. 

A share of the proceeds will go to the BDSRA Foundation. We are grateful for the Ohio Farm Bureau and their generosity and hard work in raising these funds for our Batten community.

“Following unanimous support in the Texas House of Representatives and a 30-1 vote in the Senate, Texas Governor Abbott affirmed the state’s status as a leader in newborn screening by signing House Bill 2478 into law.”

Click the button below to read the full article by the EveryLife Foundation.

The BDSRA Foundation is committed to supporting and advocating for those affected by Batten disease to raise awareness and give this community a platform to share their stories.

Sharing your story allows BDSRA to help raise awareness for Batten disease and advocate for improvements and developments for our three pillars — Support, Research, and Advocacy.

Please contact BDSRA Foundation Marketing & PR Coordinator Patrick Kotnik at patrick@bdsrafoundation.org if you’re interested in sharing your story with BDSRA.

Shared your story with local media? Let us know! Email Patrick and we will share.

In case you haven’t heard, BDSRA Foundation has moved offices.

With that comes a new address to send mail to BDSRA. For any mail and shipments to BDSRA, please use the address below. 

P.O. Box 30049
Gahanna, OH 43230

Do You Follow BDSRA on Social Media?

Want to see more BDSRA content? Don’t miss out on upcoming events, information, campaigns, and community posts! Follow @BDSRA on Facebook, Instagram, LinkedIn, Twitter, and YouTube to stay in the know on all things happening in our Batten Community!

Click below to follow all of our accounts: 

CLN2 gene therapy rescues spontaneous seizures in Batten mice: Now in human trials

Seizures are one of the primary symptoms of CLN2 disease, but exactly why these occur has remained a mystery. This study, led by Professor Jonathan Cooper (pictured right) from Washington University in St. Louis, shows for the first time that mice carrying a common CLN2 disease-causing mutation also have spontaneous seizures, that are so severe they are often fatal. Treatment with gene therapy prevented these seizures, preserved the ability to walk, and prolonged the lifespan in CLN2 mice.

The study findings, which will be presented at the BDSRA Foundation Annual Family Conference in Denton, Texas July 14-16, reveal that seizure activity in CLN2 mice is caused by the loss of a specific population of ’inhibitory’ nerve cells in specific areas of the brain that normally damp down brain activity. In an interview with BDSRA Foundation, Professor Cooper said, ”Knowing about these seizures gives us a new and clinically relevant way to test if therapies are working.”

CLN3 disease: Ophthalmological findings are crucial to early diagnosis

A study in CLN3 patients has revealed several ocular biomarkers that appear specific to CLN3 disease may assist clinicians in making timely, early diagnoses and monitoring ongoing disease progression.

Earlier this month, Theranexus together with the Beyond Batten Disease Foundation announced preliminary results from the Phase I/II trial of Batten-1 (miglustat) for the treatment of CLN3 disease.

After six months of treatment, the preliminary data signals a reduction in neurofilaments (a biomarker of neuronal death), and stabilization of motor symptoms in treated patients, compared with the decline expected with the natural disease course. Batten-1 continued to show a good tolerability profile.

Research Updates from Industry Partners

Visit the Research tab on our website to keep up with new and investigational studies! bdsrafoundation.org/research/clinical-studies/ 

No update available at this time.

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No update available at this time.

Now recruiting for RGX-381

No update available at this time.

Theranexus and BBDF granted positive opinion by EMA for the design of Phase III trial to evaluate Batten-1 in CLN3 Batten disease

Encouraging preliminary 6-month results in the Phase I/II trial of Batten-1 in Batten disease (CLN3)

Batten-1 Phase 3 Study for the Treatment of CLN3 Batten Disease in Children Age 4-16 Years

To our CLN3 families across North America: to ensure you receive the latest updates on this clinical trial, and to express your interest in participating, please be sure to fill in this online survey and/or contact Beyond Batten Disease Foundation at info@beyondbatten.org or BDSRA Foundation’s Head of Research & Medical Affairs, Dr. Ineka Whiteman at research@bdsraaustralia.org.

June 2023 Facebook Fundraiser Spotlight:

Thank you for sharing and supporting our mission on social media!

You can visit each fundraiser by clicking on the names above.

In Loving Memory 

Remember those we have lost to Batten disease. We work daily to build a brighter future for families in their honor and memory.

Jeremiah Joseph Rivers | June 1, 1997 – May 30, 2023

Lionard Alfonso | April 9, 1997 – June 1, 2023

Olivia Claire Burtwistle | August 31, 2003 – June 9, 2023

Seda Ormankian | Aug. 28th, 1999 – June 11, 2023

To have your loved one’s name placed in The Illuminator please email info@bdsrafoundation.org.

Thank You BDSRA Community of Donors!

Thank you for investing in our mission. We exist to provide support, research, and advocacy for families with all forms of Batten disease. We want to acknowledge the donors who gave so generously last month to our work. Together, we are Batten Advocates for a Cure.

To view the list of recent donors, please click the button below!

We connect your donation to Support, Research, and Advocacy for families of all CLN types.

BDSRA Foundation

PO Box 30049
Gahanna, OH 43230

(800) 448-4570 | info@bdsrafoundation.org | www.bdsrafoundation.org

View The Illuminator online