August 2023                                                                            Volume 34, Issue 8

Where did the summer go? It seems like we just returned from the Annual Family Conference, and tomorrow it’s September! Perhaps our team missed the end of summer because we have been planning for the remainder of the year, and we have so much to share.

September is packed. It’s Newborn Screening Awareness Month, so be sure to watch for opportunities to get involved in our social media. Registration for Newborn Screening Bootcamp is open until September 5, so you still have time. Click here to register. We are planning to have a Grief Chat for multiple groups in our community later this month, so watch for details. We received a grant so that I may attend the NCL Congress 2023 in Hamburg, Germany, at the end of the month. I will join our Head of Research & Medical Affairs, Dr. Ineka Whiteman, and Board Member Dr. David Pearce. We’ll be in the company of Patient Advocacy Groups and researchers from around the globe, and we will be sending updates throughout the week to keep you informed.

We will soon be adding live links to the website for $5 Fridays and Fam Funds, so please watch for more information and like and share it for us. We realize that not everyone is able to donate to BDSRA, but sharing our information brings new advocates into the fold. We saw this in action through International Batten Disease Awareness Day—170 new donors—and followers, page impressions, and post engagement have grown by the hundreds across BDSRA’s social media channels over the last year in the same period. More attention to Batten disease is always a good thing! Remember, that we are here to serve as your “back office” for any fundraising you aspire to do, and if you want more information or to start your Family Story page, please contact our Database Manager Noah Seidman at noah@bdsrafoundation.org.

The last quarter will be focused on financials with work on our 2022 990, and the 2022 Annual Impact Report. Stewardship is something we take very seriously, and those will be posted on our website. November hosts National Caregivers Month, and we plan to honor you. It also hosts National Philanthropy Day and Giving Tuesday when we will launch the Annual Appeal.

In addition to all of this, we are still making grants to families in need of financial assistance, for free equipment exchanges, and for family joy. Click here for more info. Year-to-date, we have provided more grants than all of last year, and we still have months to go. If you are in need or want to donate to support others, please let us know or visit our website donation page.

All this is to say that BDSRA is here to serve you, our Batten community of all CLN types. We thank you for your support, and we look forward to launching new programs that align with our mission to support Batten families, fund and facilitate research, and advocate for treatments and a cure. Together, we are Batten Advocates for a Cure.

-Amy Fenton Parker, BDSRA Foundation President & CEO

September is Newborn Screening Awareness Month. NBS is widely recognized as one of the largest and most successful disease prevention programs in the history of the U.S.

BDSRA advocates for NBS and Recommended Uniform Screening Panel (RUSP) alignment legislation to allow early intervention and help save lives.

Stay tuned for NBS Awareness content on our website and social media channels in September.

Smiles, books, crafts, dogs, and fun. Thank you to everyone who attended the Dog Days of Summer Party. We always have fun when we’re together!

We have started planning the Boo Bash for late October, and we want to see the whole family join us! These parties are for SIBs as well as their affected brothers and sisters. Parents join in the fun by helping everyone with their crafts, and a book is included in every party kit too. If you haven’t been to a party yet, plan your costumes now and watch for registration details.

What are Batten Centers of Excellence? Dr. David Pearce, a member of the BDSRA Foundation Board of Directors, answered that and the process of establishing them during the Annual Family Conference.

Batten Centers of Excellence will allow Batten families to see multiple specialists and receive care all in one place. Watch the video on the right to learn about more benefits.

Read Dr. Ineka Whiteman’s column below for more information!

As we prepare for future virtual programming, we want to gain a better understanding of what our Batten community wants to attend and what best fits their schedules.

Please take a moment to respond, like, and share the information on your social media. This helps us to plan what is valuable to you and when it’s best to offer it.

Please click the button below to complete the survey, and thank you for your feedback. The survey will close at midnight EST on Friday, September 8. 

Select session recordings from this year’s Annual Family Conference are now available for registrants in the mobile conference app and the app’s web version! Access them in the “agenda” section.

“Together, we are stronger than rare disease.”

Effie Parks, creator and host of the Once Upon A Gene podcast, delivered the keynote address at July’s BDSRA Annual Family Conference.

Dr. Heather Adams of the University of Rochester Medical Center was one of this year’s presenters at the conference, participating in the Ask-A-Doc panel and giving a presentation titled “Behavior, Cognition, and Learning in Batten Disease.”

St. Louis, MO, is the host site for the 2024 BDSRA Annual Family Conference! Next year’s conference will take place from July 12-14 at the Renaissance St. Louis Airport Hotel, located at 9801 Natural Bridge Road.

We’ll have more information and a special link for room reservations when the group block room rates are available.

We can’t wait for you to join us!

This Toolbox Tuesday video alerts our Batten community to an upcoming newborn screening educational opportunity with a September 5th registration deadline.

ATTENTION MARYLAND RESIDENTS!

The state is in the process of establishing a Rare Disease Advisory Council (RDAC) and is accepting applications for appointments to the RDAC. This Toolbox Tuesday video provides all the details.

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 this community a platform to share their stories.

Sharing your story allows BDSRA to help raise awareness for all CLN types and elevate 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, Twitter, and YouTube to stay in the know on all things happening in our Batten Community!

Click below to follow all of our accounts: 

As part of this year’s Annual Family Conference, we hosted the inaugural NCL Researchers Challenge. Batten disease researchers from all over the world were invited to enter a three-minute thesis-style video presentation, summarizing their team’s main research approach, the latest findings, and the significance of these findings for our Batten community. Conference registrants were invited to view and vote for their favorites. It was so wonderful to see the level of interest and engagement from both the research and family communities!

We are delighted to announce the 3 winning entries:

1st place – The University of Rochester Batten Center team, Rochester NY

Topic: University of Rochester Batten Center Research Programs

2nd place – Dr. Joshua Dearborn, Washington University School of Medicine, St Louis MO

Topic: Medical Marijuana and Batten Disease

3rd place – Lottie Morison, Murdoch Children’s Research Institute, Melbourne Australia

Topic: Communication is connection: Understanding speech, language, and non-verbal communications in CLN2 and CLN3 disease

Our three winners will be featured in the Illuminator over the coming months. Stay tuned! Videos are still available for viewing in the “Research Videos” section of the conference app.

Have you seen our NEW chart tracking clinical trials for Batten disease? Learn more with this Toolbox Tuesday video.

Here are the latest developments in REGENXBIO’s first-in-human gene therapy programs for the treatment of CLN2 disease.

On August 2, REGENXBIO announced the first patient had been dosed in the Phase I/II ocular trial of RGX-381 at Great Ormond Street Hospital in the UK. RGX-381 is an investigational one-time AAV gene therapy for the treatment of ocular manifestations of CLN2 disease, using the NAV® AAV9 to deliver the TPP1 gene directly to the retina. Initial data from this trial is expected to be shared in 2024.

In addition, REGENXBIO’s program for brain/central nervous system (CNS)-targeted gene therapy, known as RGX-181, continues. Physicians in Brazil continue to follow the first child with CLN2 disease dosed with RGX-181 under a single patient investigator-initiated study. Initial interim data from this study, including 6-month results, was presented at the SSIEM (Society for the Study of Inborn Errors of Metabolism) Annual Symposium this week.

RGX-181 is an investigational one-time AAV therapeutic for the treatment of CLN2, using the NAV AAV9 vector to deliver the TPP1 gene directly to the CNS.

For further information, read the press release here or reach out to us at the BDSRA Foundation.

We are proud to announce the launch of the Batten Disease Center of Excellence (CoE) program. This initiative aims to support the formation and ongoing provision of specialized Batten disease care centers across the United States. Health Systems and Academic Medical Centers are encouraged to apply for this designation. Ask your healthcare team/system to apply today.

For more information and to apply, click the button below.

Applications close September 15, 2023.

Have you joined the Register yet?

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.

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!

Below are a few select paragraphs taken from each of Dr. Ineka Whiteman’s publication summaries. To read the full column and each of these full summaries please click the button below that follows the “New cellular roles for CLN3 protein identified in cell study” summary.

This newsletter edition features two recently published papers from a New Zealand-based group, led by Professors Nadia Mitchell and David Palmer of Lincoln University. Over the past decade, this research team has discovered and characterized naturally occurring sheep models of CLN5 and CLN6 disease that each share key clinical features of the human conditions. These models represent ideal systems for testing the clinical efficacy of gene therapies.

The studies below describe some of the key natural history and IND-enabling safety and efficacy studies that contributed to the development of Neurogene’s NGN-101 therapy, currently in Phase 1/2 clinical trial for the treatment of CLN5 disease.

A gene-based technology that acts like a tiny ‘molecular patch’ over faulty DNA or RNA segments is a potential therapeutic solution showing promise in the treatment of Batten disease. Recent research led by Dr. Jessica Centa and Prof. Michelle Hastings at the Rosalind Franklin University of Medicine and Science in Chicago showed these ‘molecular patches,’ known as antisense oligonucleotides or ASOs, restore the production of the healthy gene product and lead to clinical improvement in a mouse model of CLN3 Batten disease.

Biological markers or ‘biomarkers’ are important tools for evaluating the presence and progression of disease, and objectively measuring the efficacy of potential therapeutics. Validated biomarkers are a significant unmet need in NCL clinical research and are an area of focus for several research groups around the world. In this study, “Cerebrospinal Fluid Protein Biomarker Discovery in CLN3,” a team led by Dr. Forbes Porter and Dr. An Dang Do at the National Institutes of Health (NIH) in Bethesda Maryland, performed proteomic discovery studies using cerebrospinal fluid (CSF) samples from CLN3-affected individuals. Twenty-five candidate biomarkers for CLN3 disease were identified, including a number of “new and intriguing candidates” warranting further investigation. Read more here.

Dr. Dang Do presented a summary of her team’s research at the U.S. BDSRA Annual Family Conference in July (conference registrants can view the video via the conference app).

Mouse models of CLN3 Batten disease have improved our understanding of the cell biology and disease mechanisms of CLN3 disease, and have been important on the path to therapeutic development. Mouse models do however have limitations in their ‘translatability’ to the human experience of the disease. For example, differences in the size and anatomy of the brain, life span, and the inconsistent, subtle behavior deficits that can be difficult to evaluate in CLN3 mouse models, limit their utility in preclinical studies. This new study, “A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes,” characterizes a novel animal model of CLN3 disease – the miniature pig that has the most common CLN3 disease-causing mutation in humans – the 1 kb deletion or ‘exon 7-8’ deletion. In these CLN3-affected pigs, progressive neuron loss is observed in some regions of the brain and the retina, particularly in later stages of the disease. Hallmarks cell pathologies are also observed in several brain regions. Additionally, affected pigs present with gait abnormalities, similar to deficits seen in human patients. Taken together, the minipig model may have utility in furthering research and development for CLN3 disease.

To learn more, click here.

A Texas-based research team has identified new cellular roles for the CLN3 protein, the loss of which contributes to lysosomal impairment and neurodegeneration in CLN3 disease.

The study led by Alessia Calgani at Baylor College of Medicine in Houston showed that loss of CLN3 protein in cell cultures leads to improper targeting and trafficking of essential enzymes needed for the function of lysosomes. Lysosomes are cellular compartments that act as ‘garbage trucks,’ degrading and removing proteins and other cellular waste. Calgani and colleagues showed that reduced lysosome function in CLN3-deficient cells in turn disrupts key pathways needed to create new, healthy lysosomes, therefore explaining global lysosomal dysfunction in CLN3 disease. The study, “Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation,” was published on July 3 in the journal Nature Communications.

August 2023 Facebook Fundraiser Spotlight:

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

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.

Cemrenur Kısa | February 10, 1996 – August 8, 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