January 2024                                                                            Volume 35, Issue 1

Your voices guide our work.

Your gifts to the BDSRA Foundation propel action.

To our donors, thank you for your generosity and for being Batten Advocates for a Cure.

Missouri is the “Show Me State”, so it’s time for you to show us your theme ideas for this year’s BDSRA Annual Family Conference in St. Louis! Click any of our linked social media accounts below and let us know your ideas in the comments! Click “like” on the comments to vote on your favorite ideas.

The winning selection will be announced in February.

If you haven’t done so yet, MARK YOUR CALENDARS! 📆

St. Louis, MO, is the host site for the 2024 BDSRA Annual Family Conference from July 12-14 at the Renaissance St. Louis Airport Hotel (9801 Natural Bridge Road).

Whether it’s an urgent need, joy along your Batten disease journey with the help of Fore the 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.

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.

What is the impact created by your $5 Friday gift? It’s storing and mailing books to educators, packing up virtual party kits, and keeping all the conference supplies.

A $5 donation helps secure BDSRA’s technology needs, which provides crucial communication and programming for Batten families, such as Ask-An-Expert webinars, virtual parties, and international meetings.

By giving $5 on Fridays, you help ensure Batten families receive family resources, Batten Disease Awareness Day T-shirts, and activity kits for virtual parties.

Communicating with our Batten community is vital to our mission. Your $5 Friday donation ensures that Batten families and the community’s voices will be heard.

Your $5 Friday donation ensures BDSRA database needs, which include sending The Illuminator newsletter each month and managing the Family Register.

These are the power of FIVE. 

So, you have just signed up for our Fam Funds program; what happens now?

Search your inbox for an email from Database Manager Noah Siedman, who gives helpful tips in the tutorial above on what you’ll need to do next.

Watch the full tutorial on our website by clicking the button below.

For complete information on this event, including registration, please visit the EveryLife Foundation for Rare Diseases website.

“Rare Disease Week on Capitol Hill empowers and inspires hundreds of advocates each year. The connections you make during the week will impact rare disease patients for generations to come.

Hosted by the Rare Disease Legislative Advocates (a program of the EveryLife Foundation for Rare Diseases), this multi-day event brings together rare disease advocates from across the country to make their voices heard by their Members of Congress. Participants are educated on policy proposals impacting the rare disease community and provided opportunities to advocate for policy changes directly to their Members of Congress. No matter one’s connection to rare disease or their advocacy experience level, all are welcome.”

Register before Thursday, February 8. 

For complete information on this event, including registration, click the button below.

“Rare Disease Day at NIH will be held at NIH Main Campus (Natcher Conference Center) on Thursday, Feb. 29, 2024, from 9 a.m. to 5 p.m. EST. There also will be a virtual livestream via NIH VideoCast with the event archived for replay afterward. The event agenda will feature panel discussions, rare diseases stories, in-person exhibitors and scientific posters, and an art exhibition. The event is free and open to the public.”

For complete information on this event, including registration, click the button below.

• “FDA will host Rare Disease Day, a virtual public meeting, on  March 1, 2024 in global observance of Rare Disease Week. This year’s Rare Disease Day is dedicated to patients and health care professionals. Panels will discuss:
• The legal framework for approving studies and medical products at FDA
• What FDA does during review processes to approve medical products
• Decentralized clinical trials and digital health technologies
• Where to find important information and documents related to clinical trials
• Information that can be obtained from medical product labels
• Legal and ethical requirements for consent forms in clinical trials
• FDA initiatives to advance medical product development for rare diseases
• Ways for patients to engage with FDA.”

What is Batten disease? BDSRA Foundation wants to make answering that question a little easier. This Toolbox Tuesday video focuses on just that. Help advocate, raise awareness, and educate your communities on Batten disease by sharing!

Stay tuned to BDSRA’s social media channels for important Rare Disease Week work you can do from home!

BDSRA’s Board of Directors will have its quarterly meeting in Philadelphia on Saturday, February 3, from 9 a.m. to 5 p.m. EST.

Following the meeting, members will attend the Drew’s Hope Casino Night fundraising event on Saturday evening.

LOVE IS IN THE AIR! It’s time to mark your calendars for the first BDSRA holiday party of 2024! 💘

BDSRA will be hosting a virtual Valentine’s Day party on Wednesday, February 14, at 6:30 p.m. EST. This is a time for Batten SIBs, parents, and affected individuals to gather for a fun evening celebrating Valentine’s Day with a party kit that includes a story and craft!

Order your party kits before midnight on Wednesday, February 7 while supplies last. You will receive the Zoom link to join the party after registering.

This year, BDSRA and its facilitators are committed to bringing the Batten community regular opportunities to come together and chat with one another.

These virtual grief chats will take place on the third Sunday of every other month at 7 p.m. EST. The upcoming chat is scheduled for Sunday, February 25, at 7 p.m. EST. If you’re interested in joining  any session this year, please sign up below.

We will notify you via email before each chat as well as inform you who the facilitator is and if there are any special topics for that session. You are not required to sign up for each chat, just fill out the form below once and you will receive the link to join.

How would you describe your Batten journey in one word?

1. Click the button below to download and print out the sheet above.
2. Write down your word.
3. Send an email to BDSRA Foundation Marketing & PR Coordinator Patrick Kotnik at patrick@bdsrafoundation.org detailing why you chose the word you wrote down.
4. You can either hold up the sheet and record a video of yourself explaining why you chose the word you wrote or write about it in the email.
5. Whether you choose to write about it or record a video, please take a picture of yourself holding up the sheet and attach it to the email.

The BDSRA Foundation is committed to supporting and advocating for patients and families of all CLN types to raise awareness and give the Batten community a platform to share their stories. This elevates our three pillars — Support, Research, and Advocacy.

Please contact BDSRA Foundation Marketing & PR Coordinator Patrick Kotnik at patrick@bdsrafoundation.org with any questions.

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

Do You Follow BDSRA on Social Media?

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

Click below to follow all of our accounts: 

Keep up to date with the latest clinical trial and natural history study news with our Clinical Studies Chart on the BDSRA Foundation’s website. Check it out by clicking the button below.

On January 18, Elpida Therapeutics held an online meeting for the CLN7 disease community to discuss the AAV-based gene therapy (AAV9/MFSD8) program currently in Phase 1 trial for the treatment of CLN7 disease, and Eplida’s plans to move to the next phase of clinical trials. The meeting was attended by families, doctors, scientists, and patient advocacy groups from all over the world. The primary aims of the meeting were (1) how to most effectively identify and connect with CLN7 disease patients and their families globally, and (2) to discuss the potential design, strategy, and initiation of a retrospective and prospective natural history study, a vital clinical trial component for evaluating the efficacy of the investigational gene therapy. Elpida Therapeutics is working hard to develop a standardized data collection approach and will hold another meeting with families in the very near future.

For further information on the CLN7 gene therapy program and to stay up-to-date with program developments, please reach out to Souad Messahel, Head of Clinical Operations at Souad@elpidatx.com.

A copy of the presentation from the January 18 meeting can be downloaded here.

On December 19, 2023, Neurogene released the following announcement:

“ We are thrilled to share that the merger that we announced in July of this year between Neurogene and Neoleukin Therapeutics is now complete, which secures the funding we need to advance our mission of bringing life-changing genetic medicines to patients and families impacted by devastating neurological diseases. In connection with this merger, we are moving from a privately held company to a public traded company, and will begin trading today on the NASDAQ under the ticker ‘NGNE’.”

Further to this, on January 5, Neurogene announced the completion of enrollment of Cohorts 1 and 2 in the ongoing Phase 1/2 clinical trial for CLN5 Batten disease, with interim clinical data expected in the second half of 2024. Neurogene is currently enrolling a final higher dose cohort for this study.

In the fourth quarter of 2023, Neurogene completed a positive meeting with the FDA regarding the future potency assay for batches of the ‘NGN-101’ study drug. The FDA accepted Neurogene’s proposed potency assay strategy and provided alignment with the testing approach, which will allow the release of all future NGN-101 batches.

To enable advancement into a registration study, Neurogene is collecting and analyzing natural history data for CLN5 Batten disease and planning to request a clinical/regulatory strategy meeting with the FDA in the second half of 2024. The focus of this meeting will be to align with the FDA on the expected clinical requirements to support a streamlined registration pathway, which will be necessary to move this program forward into a pivotal clinical trial.

In relation to these CLN5 gene therapy program updates, BDSRA would like to remind our community that the natural history study for CLN5 disease, mentioned above, is still open for recruitment and seeking participants. This international study is open to all individuals with a genetic diagnosis of CLN5 disease and where disease onset occurred at the age of five years or younger. Current and bereaved families affected by CLN5 disease are encouraged to participate.

For further information, please get in touch with the recruitment site – the University of Rochester Batten Center (URBC) – or reach out to Dr. Ineka Whiteman, BDSRA’s Head of Research & Medical Affairs via email at research@bdsraaustralia.org. 

A reminder to families: Enrolment for the international Batten-1 (miglustat) Phase 3 study is expected to commence in the coming months. This study is open to participants worldwide, with study sites across the U.S., Europe, the U.K., and Australia.

To ensure you are kept up-to-date with the latest study information and developments, you can join the Beyond Batten Disease Foundation (BBDF) family mailing list by emailing Mary Beth Kiser, President and CEO at BBDF, at mbkiser@beyondbatten.org or Dr Ineka Whiteman at research@bdsraaustralia.org.

WORLDSymposium is an annual research conference dedicated to lysosomal diseases (WORLD actually stands for We’re Organizing Research on Lysosomal Diseases). This meeting attracts researchers, patient advocacy groups, clinicians, industry partners, and all others who are interested in learning about the latest discoveries and clinical advances in lysosomal diseases, including Batten disease.

COMPLIMENTARY REGISTRATION FOR PATIENTS AND PATIENT FAMILY MEMBERS

To make the 2024 Annual Scientific Meetings accessible for lysosomal disease patients and their families, WORLDSymposium is offering complimentary registration (for in-person and/or online attendance) to all lysosomal disease patients 18 and over. Immediate adult family members (18 and over) may also be registered. For more information and registration links, click here.

The WORLDSymposium 2024 daily programs can be viewed here.

Held every two years, the International Congress on Neuronal Ceroid Lipofuscinosis (NCL Congress) is the premier conference for NCL basic, translational, and clinical research. This meeting is primarily geared toward researchers, clinicians, industry partners, and patient groups. However, international families are also warmly invited to attend.

NCL2025 will be held in Australia in late 2025, with details to be announced in the coming months. To assist with planning, the local Congress Organizing Committee invites all potential attendees (researchers, clinicians, industry partners, patient groups, and families) to fill in this expression of interest survey at your earliest convenience.

We hope to see you Down Under!

Have you joined the Register yet?

In recent months, we’ve had a wonderful response to our calls for families to join our Family Register. Let’s keep it going!

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 opportunities.

The Register also enables the BDSRA Foundation to better understand the prevalence of Batten disease, including the different subtypes and geographical locations. This helps us tailor our education and support activities according to the needs of our families.

The Register is open to all current and bereaved families in the U.S. and internationally.

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.

Thank you for participating in this important initiative!

Read these publication summaries in Dr. Ineka Whiteman’s full column by clicking the button below. 

We are sorry to say that Facebook has changed its fundraising policy and is no longer paying processing fees or handling its own fundraising initiatives. They have engaged the PayPal Giving Fund to process payments, and we will be charged processing fees.

Additionally, PayPal Giving Fund erroneously denied our organization the ability to fundraise on Facebook saying that we were not eligible for charitable donations, even though PayPal processes donations to BDSRA Foundation routinely. (EIN 91-1397792)

We have sent all the necessary paperwork to PayPal, and they have not responded. If you would like to donate or promote donations to the BDSRA Foundation, you may go directly to our donation form by clicking here.

We are grateful for the many fundraisers our community organizes for us. We will continue to work to get this resolved. If you have any questions or concerns, please contact President & CEO Amy Fenton Parker at Amy@BDSRAFoundation.org or 614-973-6011.

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.

Natally Paradellas | March 30, 2009 – October 29, 2023

Jaxom Tyler Mason | June 26, 1987 – December 1, 2023 

Zeynep Sargın| January 15, 2014 – January 21, 2024

Manuel Elias Navarro | November 6, 2014 – January 22, 2024

To have your loved one’s name placed in The Illuminator and read at the memorial service at the Annual Family Conference in July, please email patrick@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