April showers bring May flowers, but here are some dates we want you to sprinkle on your calendar. This month is full of information and participation, so we’ve compiled the list below for your convenience. Find more information about these events by scrolling through the rest of the newsletter.

• HAPPENING NOW: Vote for your favorite International Batten Disease Awareness Day T-shirt design by April 7th at 11:59 PM EDT!
• April 7: LAST DAY to vote for the T-shirt design.
• April 9: Ask-An-Expert at 5 PM EDT, featuring Dr. Paulo Falabella from REGENXBIO and Dr. Ewa Ziółkowska from Washington University in St. Louis.
• April 10: Early Bird Registration opens for the Annual Family Conference July 12-14. We hope to see you there!
• April 15: DEADLINE for Conference Grant Applications.
• April 21: Grief Chat at 7 PM EDT. Prior registration is required for newcomers.

We’ll continue to post on all of our social channels, especially for any updates. We ask you to like and share the posts because it helps others to find us and our offerings. We invite you to share all of this information in the Closed Parent Facebook Group and your own CLN Groups too.

We’ll be busy preparing for all these events, and we look forward to seeing you there!

Amy Fenton Parker, BDSRA President & CEO

St. Louis is the next stop on our path to a cure, and we hope you’ll join us!

Read below for the latest updates regarding the Annual Family Conference.

Early Bird Registration will be available for the 2024 Annual Family Conference on Wednesday, April 10! This Early Bird special includes $5 off the $25 price of each adult registration.

The link can be found on BDSRA’s website and social media channels on April 10.

Make your reservation to join us in St. Louis! Rooms in our group block are priced at $119 plus taxes and fees.

Thanks to forward-thinking, generous donors who lost their children to Batten disease, each year there is a limited amount of funding available for families based in the U.S. or Canada who need assistance to attend the BDSRA Annual Family Conference.

Apply for a grant before the April 15 deadline!

The City Museum isn’t your typical museum, it’s an artist-built playground full of weirdly wonderful spaces to explore.

Located in downtown St. Louis, it’s a favorite of the SIBs program and will once again be the site of one of the SIBs activities at this year’s Annual Family Conference!

Keep an eye on our social media channels and your email for more updates.

We received 27 designs and narrowed it down to three finalists, now it’s your turn to determine the design for this year’s International Batten Disease Awareness Day T-shirt!

Please cast one vote per person for your favorite design.

Stay tuned for registration information for the International Batten Disease Awareness Day Virtual 5K and more ways you can help raise awareness and funds this year!

What event did you attend in Rochester, New York? 

I was invited to join the collaborative presentations of the University of Rochester Batten Center’s Batten Disease Research Day on Friday, March 22. I learned about the progress of their work, met many new people, and had good conversations in a group setting discussing families’ interests and needs. I got to meet a new Batten family member too!

Continue reading by scrolling below!

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.

With Earth Day on April 22 approaching, we encourage members of our Batten community to apply for the Equipment Exchange Grant. You must gift equipment and/or supplies to another Batten family of need free of charge. BDSRA will cover the shipping costs.

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

Learn more by clicking here.

What new information did you learn, and how can that information help benefit/educate the Batten community?

Two family representatives, who were invited by Rochester, started the day by sharing their family stories, which set the stage for the research to be presented.

All of the studies presented were centered around CLN3 disease, but some could be applied to other forms of Batten in the future. Some of the presentations have been published, so please use the links shown for the complete publications.

I found the use of EEG to measure auditory processing fascinating. Results reveal emerging insufficiencies in this critical auditory perceptual system in individuals with CLN3 disease. As noted in the press release, researchers found that the functioning of the auditory sensory memory system — the brain system required for short-term memory recall — appears to decrease as the disease progresses. The findings support using auditory mismatch negativity as a translational neurophysiological biomarker for the progression of CLN3 disease.

Further studies were developed to understand the auditory neurophysiological deficits in age-related and sex-specific CLN3 mouse models. The study went well and allowed foundations to develop age and sex-specific therapeutic strategies for CLN3 and uncover underlying neural mechanisms.

Advancement in the understanding of degeneration in the retinal pigment epithelium (RPE) was presented. The results suggest that cell-autonomous RPE dysfunction may be a key driver of early retina degeneration and vision loss in CLN3. This knowledge will be useful in developing therapies for CLN3 disease.

The zebrafish models fascinate me. A study presented on CLN3 deficiency led to neurological and metabolic perturbations during early development. The models revealed that glycerophosphodiesters (GPDs) accumulate at very early stages of life in the absence of functional CLN3 and highlight glycerophosphoinositol and bis(monoacylglycero)phosphates (BMP) as promising biomarker candidates for pre-symptomatic CLN3 disease.

The value of telemedicine was presented — all the opportunities and the challenges. Some of the biggest opportunities would seem to be flexible scheduling and wearable home sensors. Enabling research participants to be seen at centers specializing in Batten disease (BDSRA Centers of Excellence) with one unique identifier would help create more robust data.

Who did you have conversations with? What was the primary theme of your conversations with fellow attendees?

I met many researchers whom I had not met in person before and learned about their work. I also had time to visit with the clinicians we are most familiar with, but we had never had time to talk at the conference. For many, it was an opportunity to talk with colleagues about their work, as they often don’t find the time either. We all appreciated being able to talk one-on-one with the family representatives as well.

There is great value in conversations like these because they all drive better understanding. In the afternoon, the group gathered to discuss thoughts on what was presented. The conversations centered around family needs and desires in developing treatments and cures. Even the value of simple terminology — phasing or staging — was discussed by the group. Family needs were at the center of what all the researchers and clinicians wanted to know.

BDSRA Database Manager Noah Siedman spoke at the NewYorkBIO Patient Engagement Summit in March about his experiences engaging with hope as a rare disease sibling. BDSRA Board Treasurer Fred Surrey introduced him.

We will share a recording of Noah’s presentation once it’s available. In the meantime, please click the button below to read Noah’s script.

During Rare Disease Week, YOU delivered through our advocacy module.

Your voices are valued and the impact they can have on change is essential for improvements on the path to treatments and cures for the Batten and rare disease communities. Together, we are Batten Advocates For A Cure.

Thank you! 💜

In March, BDSRA signed on to two letters circulated by the American Brain Coalition — one requesting the House Committee on Appropriations to provide at least $740 million in funding for the BRAIN Initiative® in FY 2025 and the other encouraging the House and Senate to provide $5 million for the Neurology Drug Program, which will help advance discoveries in all areas of brain health including neurodevelopmental, neurodegenerative, psychiatric, brain injuries, and more.

Ask-An-Expert returns on Tuesday, April 9 from 5:00-6:00 p.m. EDT for a Research in Review edition. Hosted by BDSRA Foundation Head of Research & Medical Affairs, Dr. Ineka Whiteman, this webinar will feature presentations from:

• Paulo Falabella, MD, PhD, Vice President, Clinical Development & Operations, REGENXBIO: Preliminary Clinical Data on CLN2 Gene Therapy RGX-181 & RGX-381
• Ewa Ziółkowska, PhD, Post Doctoral Researcher, Pediatric Storage Disorders Lab, Washington University in St. Louis: Gene Therapy Treats Neuromuscular Consequences in a CLN3 Mouse Model
• Ineka Whiteman, PhD, Head of Research & Medical Affairs, BDSRA U.S. & Australia: Clinical Research Updates

A 5-minute Q&A will follow each of the first two presentations and a general Q&A will wrap up the webinar following Dr. Whiteman’s updates.

Click the button below to learn more and register.

The next BDSRA Grief Chat is scheduled for Sunday, April 21, at 7 p.m. EDT, hosted by bereaved Batten father, Chris Hawkins. If you’re interested in joining any session this year, please sign up by clicking the button below.

Whether you’re bereaved or actively caring for a loved one with Batten disease, these Grief Chats are open to everyone in the Batten community.

Prior registration is required for newcomers. If you’ve already completed the Grief Chat form, you will receive an email reminder one week before and the day of.

BDSRA’s Board of Directors will have its quarterly meeting virtually on Sunday, April 28, starting at 2 p.m. EDT.

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:

Stay 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 here.

On March 7, Collaboration Pharmaceuticals announced it was awarded a new NIH grant that will be utilized for the ongoing development of its lead pipeline product, a recombinant human enzyme replacement therapy for CLN1 disease treatment. Currently in preclinical development, Collaboration Pharmaceuticals is actively manufacturing the protein in preparation for IND-enabling toxicity testing.

CEO Dr. Sean Ekins said in a press release, “We now propose in this project production of GMP (Good Manufacturing Practice) protein, continued development of quality procedures, prepare a clinical trial protocol, and submit an IND in collaboration with STC Biologics, Long Scientific LLC, RTI International and CTI Clinical Trial Services, Inc. respectively, in order to translate this potential treatment to the clinic.”

Held on alternate years to the International Congress on Neuronal Ceroid Lipofuscinosis (NCL Congress) this bi-annual meeting is for families, researchers, and industry experts to discuss gaps, lessons learned, and emerging therapeutic approaches in NCL preclinical and clinical research.

The 8th Translational Research Conference will be held in Chicago, at the Westin Chicago Lombard on November 20-22, 2024. There will be more details to follow.

To join the mailing list for updates on this Conference, please email ResearchEvents@sanfordhealth.org.

Have you joined the Register yet?

In recent months, we’ve continued to have a wonderful response to our calls for families to join our Register. Let’s keep the momentum 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 and natural history opportunities.

The Register also enables BDSRA to understand more 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!

Principal Investigator: Heather Adams, Ph.D.

Research sponsor: Batten Disease Support, Research & Advocacy Foundation

The University of Rochester Batten Center is conducting a study of sleep function in individuals with CLN2 and CLN3 Batten disease.

What is involved?

Affected individuals will provide saliva samples to test melatonin concentration, and wear an actigraph (a wrist-watch style activity monitor). Parents/caregivers will assist the affected individual with study activities and will complete questionnaires.

Who may be eligible?

Affected individuals who…

• have a confirmed genetic or enzyme-based diagnosis of CLN2 or CLN3 disease
• have any symptoms of CLN2 or CLN3 disease
• are at least 2 years old
• live at home with at least one primary caregiver
• have not taken oral melatonin in the past 2 weeks (before study participation begins), or have only taken it occasionally (no more than 3 times per week)

No travel is required! All study activities will take place at your own home. This study is open to families currently residing in the U.S.

The affected child & parent will receive $200 (total for household) for participation in the research.

If you are interested in learning more about the study, please contact the study team at: Batten@URMC.Rochester.edu or call Study Coordinator, Marianna Pereira-Freitas at: (585) 274-0205.

Publication highlights from March include:

• Disruption of lysosomal nutrient sensing scaffold contributes to pathogenesis of a fatal neurodegenerative lysosomal storage disease
• Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
• Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease
• Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature
• Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa
• Identification of New Modulators and Inhibitors of Palmitoyl-Protein Thioesterase 1 for CLN1 Batten Disease and Cancer
• The parent and family impact of CLN3 disease: an observational survey-based study
• A recessive CLN3 variant is responsible for delayed-onset retinal degeneration in Hereford cattle
• Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease

Read these summaries and Dr. Whiteman’s full column by clicking the button below.

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

Maiah McWaters | February 28, 2003 – March 21, 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.

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