On August 27, Tern Therapeutics announced its launch and entered into a global licensing agreement with REGENXBIO for RGX-381 and RGX-181 (now designated TTX-381 and 181, respectively) to form its initial therapeutic pipeline. TTX-381 and TTX-181 are novel one-time gene therapy products being developed for CLN2 Batten disease.

Click the button below to visit our website and learn all the details. You’ll find Tern’s press release, REGENXBIO’s letter to the Batten community, a video message from BDSRA Head of Research & Medical Affairs Dr. Ineka Whiteman, and a timeline of this process from the past year.

A lot can change in one year, but advocating for our Batten community is something that won’t. Sometimes we cannot share updates from our industry partners, but our work behind the scenes never stops. Thank you for your patience and for trusting us to advocate for families of all CLN types.

On August 9, Neurogene Inc. announced that its Phase 1/2 Trial of NGN-101 Gene Therapy for the treatment of CLN5 Batten disease is now fully enrolled, with plans to provide interim clinical data and a regulatory update in the first quarter of 2025.

Click the button below to read the full press release from BDSRA alongside our international partners.

It’s time for research updates! BDSRA Foundation’s Head of Research & Medical Affairs Dr. Ineka Whiteman breaks down Batten disease clinical program updates, research news, and resources in her monthly column.

During my recent visit to the U.S., coinciding with the Annual Family Conference in St. Louis, I was excited to have the opportunity to visit two U.S. Batten Disease Centers of Excellence, and the Pediatric Storage Disorders Lab led by Prof. Jon Cooper.

As part of my role as Program Lead for the Clinical Centers of Excellence Program, I am enjoying the opportunity to visit our Centers in person to meet the multidisciplinary teams and see firsthand how clinics operate in their management and care for Batten patients and families. In early July, I was invited to attend the Batten Disease Clinic at Children’s Hospital Colorado in Denver, led by Directors Dr. Kourtney Santucci and Dr. Scott Demarest. It was wonderful to observe their team in action with Batten patients being seen by neurology, clinical genetics, pediatrics, neuropsychology, psychiatry, speech pathology, occupational therapy, physical therapy, and other disciplines over 1-2 days as part of their 6-monthly visits.

Similarly, at the Children’s Hospital of Orange County (CHOC) in Los Angeles, I was invited to meet with the Batten Disease Clinic Director, Dr. Ray Wang, and the multidisciplinary team, and to present on the global prevalence of NCLs, international patient group initiatives and the Centers of Excellence program.

In St. Louis, I was honored to tour the laboratory of NCL research legend Prof. Jonathan Cooper PhD to meet his team and observe their neuropathology research in action. Prof. Cooper’s Pediatric Storage Disorders Lab is the leading international center for the morphological analysis of pathological changes in the central and peripheral nervous systems in NCL.

I look forward to more Centers of Excellence and research visits later this year.

Read Dr. Ineka Whiteman’s full column by clicking the button below. 

TODAY IS THE FINAL DAY to submit Expressions of Interest for the inaugural Batten Disease Global Research Initiative Grant Round. We seek to support the most promising research ideas worldwide that address key research questions and areas of unmet need in Batten disease.

To learn more about this program, including the top 10 research priorities, and how to apply, please click the button below.

If you’re an advocate experienced in Batten disease, bi-lingual, and have experience in education, law, fundraising, or advocacy, we encourage you to apply to become a member of the BDSRA Board of Directors. TOMORROW, AUGUST 31, is the FINAL DAY you can apply.

All applications will be reviewed and some may have phone interviews. Elections will be held at a fall board meeting, and all applicants considered will be notified of the decisions made.

Click the button below for more information.

Select presentations from the 2024 Annual Family Conference in St. Louis are publicly available on our YouTube channel! Recordings include the Science & Research session, Celebration of Life, Dinner Dance announcements, financial sessions, caregiver support presentations, and much more!

Thank you to everyone who attended the Dog Days of Summer Party on August 11! We appreciate each moment we get to spend with our Batten community. Whether you were able to attend the party or not, we hope you enjoyed some family fun!

Scroll down below to the “Upcoming Events” section for information on the next virtual party! 👀🎃

“Uplifting Experiences can take on many different forms, but the top priority is always harnessing the power of sport to inspire hope and joy in the lives of people impacted by rare diseases.

The objective of each event is to provide an opportunity for members of the local rare disease community and athletes to connect. Uplifting Experiences is centered on affording people impacted by rare diseases a unique and memorable experience, while simultaneously allowing athletes to directly connect with the people impacted by a cause they support.”

Click the button below to view the Uplifting Experiences upcoming events list to learn more and register.

Whether it’s an urgent need, joy along your Batten disease journey, or sending equipment to another family in need, BDSRA is here to support you through our family grants.

The EveryLife Foundation for Rare Diseases offers financial resources and medical resources for the rare disease community.

Learn more by clicking here.

The BDSRA Foundation Family Register is a vital tool that enables us to keep you informed of ongoing Batten disease research, including future clinical research and natural history opportunities.

The information collected in this form is kept STRICTLY CONFIDENTIAL. Your involvement in this survey is entirely voluntary, and you may request to be removed from the list at any time. The form takes just a few minutes to complete and can be accessed by clicking the button below.

• Sent letter of support to all Massachusetts House members asking that they support Amendment #14 to H. 4891, equitable access to biomarker testing. This amendment will help provide patients the treatment that’s right for them.

On July 17, FDA announced the establishment of the FDA Rare Disease Innovation Hub.

The Reagan-Udall Foundation for the FDA, in collaboration with FDA’s Rare Disease Innovation Hub, will host a public meeting on Wednesday, October 16. The meeting will bring together rare disease patient advocates, academic researchers, regulated industry, and other key stakeholders to discuss how the recently announced Rare Disease Innovation Hub can best engage with members of the rare disease community and prioritize its work.

In-person participation will be at the FDA’s White Oak campus, a live stream will be available, and written comments will be accepted until October 31. Prior registration is required and limited.

Who’s ready for a scary good time?!

BDSRA will host its Annual Boo Bash for Batten families on Sunday, October 13, at 4 PM EDT via Zoom. This virtual party is an opportunity for parents and SIBs to gather with their loved one(s) with Batten and enjoy a Halloween party with fellow Batten families!

We encourage those attending to wear their favorite costume! Registration will be available in September. Please pay close attention to your email and our social media channels for more details and updates.

As part of our Life Goes On program for bereaved Batten parents, the next BDSRA virtual Grief Chat will be held on Sunday, October 20 at 7 p.m. EDT. If you’ve already completed the Grief Chat form, you will receive an email reminder one week before and the day of the chat.

These Grief Chats are an opportunity for bereaved Batten parents to gather and support each other no matter where they are on their grief journey.

If you haven’t attended a Grief Chat this year, please click the button below to register.

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

To have your loved one’s name placed in The Illuminator and read at the Celebration of Life at the Annual Family Conference, please email patrick@bdsrafoundation.org.

BDSRA is grateful for all gifts that support the mission; however, restricted gifts require more time and attention to administer. At its July 11, 2024, meeting, the BDSRA Foundation Board of Directors voted to implement a management fee of 7% on restricted gifts effective August 1, 2024. Please contact President & CEO Amy Fenton Parker with any questions at amy@bdsrafoundation.org.

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

From copy paper to personnel, $5 Fridays is designed to keep the office moving. The more $5 Friday donations BDSRA Foundation receives for operations, the more money BDSRA can invest in programs, research, and advocacy.

Designed to give our community control over their stories, fundraising, and donations, our Fam Funds participation is growing!

• Tell your story
• Raise funds for BDSRA
• Choose where donations are directed
• Share with your community