September 2023                                                                            Volume 34, Issue 9

BDSRA President & CEO Amy Fenton Parker and Head of Research & Medical Affairs Dr. Ineka Whiteman attended the 18th International Congress on NCL in Hamburg, Germany this past week.

Hear their takeaways from Days 1 & 2 and stay tuned for more updates in the near future.

Day 1 Summary

Day 2 Summary

Introducing a new BDSRA Foundation program, Fam Funds!

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

Watch the official launch video on the right.

What can you expect from this program?

Our Database Manager, Noah Siedman, breaks down what you need to know in this Fam Funds tutorial.

Meet the Beedles, the first Batten family to participate in our new Fam Funds program. Amanda and Adam are parents to Annabelle and Abigail, who have CLN2.

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.

Check out our NBS Awareness content below.

Claudia Fennell, Batten mother to Penelope, shares why NBS is important to her and the story behind her testimony for Recommended Uniform Screening Panel (RUSP) alignment in Maryland.

Click the button below to read her story.

We invite you to listen to a conversation about newborn screening and RUSP alignment with Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement at the EveryLife Foundation for Rare Diseases. Visit our YouTube channel to watch the full video and subscribe for more content.

This Toolbox Tuesday video features the new white paper released by the EveryLife Foundation titled “Pioneering the New Era of Newborn Screening: Collaborative Insights and Recommendations for Modernizing NBS Systems,” a visionary document that charts the future of the newborn screening system in the United States.

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!

📣 OHIO RESIDENTS 📣

We invite members of our Batten community in the Buckeye State to join us for Rare Disease State Advocacy Day in Columbus on Tuesday, October 17, from 9 a.m. to 4 p.m.

The deadline to register is Monday, October 2. A mandatory training webinar will take place on Wednesday, October 4 from 3-4 p.m. EDT.

Click below to read the letters BDSRA signed on to in September:

• Sign-on letter to Congress in support of Cameron’s Law (H.R. 1350) and Leo’s Law (H.R. 1805).
• Sign-on Letter Supporting FY24 BRAIN Initiative®.

Join us for a Grief Chat on Monday, October 2, at 7 p.m. EDT.

There will be three separate meeting rooms — one each for bereaved SIBs, active parents and caregivers, and bereaved parents and caregivers as part of our Life Goes On program. Please register individually.

A confirmation email with a Zoom link will be sent after you register.

Meet our Grief Chat leaders below:

Meet Peggy DiCapua, bereaved Batten mother of Christopher. Peggy will be leading the Life Goes On Grief Chat for bereaved parents and caregivers.

Meet Jeni Montavon, one of the leaders of the SIBs program and sister of Jeffrey. Jeni will be leading the Grief Chat for bereaved SIBs.

Meet Dr. Joseph Vigil, bereaved Batten father of Mary Payton and a rehab psychologist. Joe will be leading the grief chat for active parents and caregivers.

Suzette James

Register for FDA CBER’s fall RegenMedEd webinar on October 5 at 11 a.m. ET.

Hear inspiring stories of advocacy from families of individuals with rare diseases, including BDSRA board member Suzette James, Batten mother of Maya and Xavier who have CLN2.

Grab your costumes and join us for a frightfully FUN time at the 2023 Boo Bash taking place on Tuesday, October 24 at 6 PM EDT via Zoom!

Pair your costume with a party kit that includes a story and a craft! The deadline to order party kits is midnight on Wednesday, October 18.

A Zoom link will be sent to the email address you use to register, along with instructions on how to join in the SPOOK-tacular fun. Families are welcome to request a kit for each child who will be participating!

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: 

Parents of children with a rare genetic disease are invited to participate in a research study that explores their perceptions and experiences surrounding their child’s diagnosis day. Responses from this survey will be used to provide guidance to providers on how to better provide diagnoses and support to families.

This survey takes 15–20 minutes to complete. Parents must be at least 19 years old and must have a child who is 18 years or younger and has received a rare genetic diagnosis within the last 5 years. Additionally, the rare disease must be new to the family and no other family members (siblings, parents, etc.) can have the same diagnosis.

Greetings from the NCL 2023 Congress in Hamburg, Germany! This month’s research column is hot off the press from the premier international research meeting for Batten disease. With over 200 in-person delegates including scientists, clinicians, industry partners, patient advocacy groups, and families, it’s been an exciting week of presentations, discussions, and connecting with colleagues from all over the world.

As the conference is still underway as this column goes to publish, we will publish a full report on the latest discoveries and meeting highlights in next month’s addition. In the meantime, keep an eye out for a few snippets from President Amy Fenton Parker and me on our social media forums!

As part of this year’s Annual Family Conference program, we hosted the inaugural NCL Researchers Challenge. Batten disease researchers from all over the world were invited to enter a “3-minute thesis” style video presentation, summarizing their team’s main research approach, latest findings, and what the significance of these findings is 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!

Congratulations to the University of Rochester Batten Center (URBC) team from Rochester NY who were awarded first place. We recently conducted an interview with the team, and we’re delighted to showcase some of their key projects and discoveries below.

Meet the team below:

Top (pictured from left): Jennifer Vermilion, MD (URBC Director); Amy Vierhile, DNP, RN, PPCNP-BC (Lead Clinical Coordinator), Patricia Fenton, RN, CCRC (Coordinator).

Bottom (pictured from left): Heather Adams, Ph.D. (Neuropsychologist), Marianna Pereira-Freitas, BA (Coordinator).

ABOUT THE URBC

The URBC is a comprehensive Batten disease clinical and research center located at the University of Rochester Medical Center (URMC) in Rochester, New York. The URBC provides support and clinical services, contributes new knowledge, and works to find treatments that will slow, halt, or prevent disease in people with Batten disease. Here, the URBC team shares some insights into their research.

Can you tell us a bit about the research carried out at the URBC?

The University of Rochester Batten Center started studying Batten disease (i.e. Neuronal ceroid lipofuscinosis, or NCL) in 2002 and has had a very active research team over the past two decades. We have been looking at all forms of Batten disease; studying the various symptoms such as vision, cognitive function, motor movements, mood, sleep quality, and behavior. One of our major research studies entails gathering information from affected individuals and their families on the natural history of Batten disease. Importantly, these data have been used to help researchers and scientists when planning for treatment trials.

Natural history? This term may seem a little odd to some at first. Can you please explain what the term “natural history” means, in the context of Batten disease?

Natural history refers to how a disease and its symptoms unfold and progress over time. The URBC natural history research study follows affected individuals with any of the NCL forms. By observing affected individuals as they age, we can learn when particular symptoms begin and answer questions like: “Do those symptoms remain stable over time, worsen, or improve?” “What symptoms lead to disability?;” and “What factors might be related to fewer symptoms and/or less disability?” We also want to understand how symptoms, and their changes over time, impact an affected person’s quality of life, daily functioning, and family function. All of this information furthers our understanding of the progression of NCL disorders and helps to establish a baseline for comparison to disease-modifying treatments.  Also, understanding the disease’s natural history has helped us learn about differences between the various NCL types, or even within a particular NCL disorder (e.g. different patterns of progression for girls versus boys affected by CLN3 Batten disease).

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

Further to the developments we shared on REGENXBIO’s CLN2 gene therapy programs in the August Illuminator, we want to share REGENXBIO announced the topline preliminary 6-month data from the ‘RGX-181’ brain-targeted gene therapy program at SSIEM (Society for the Study of Inborn Errors of Metabolism) Annual Symposium in Jerusalem on August 31. In this investigator-initiated study in Brazil, physicians treated one child with CLN2 disease dosed with RGX-181 under a single patient investigator-initiated study. Initial interim data from this study showed:

One-time administration of RGX-181 was well tolerated, achieved sustained gene expression, and demonstrated clinically meaningful improvements across multiple measures including reduced (86%) seizure frequency.

Investigators observed encouraging neurodevelopmental skill acquisition at 6 months.

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!

In 2020, Sondhi and colleagues published results from an investigative gene therapy study for the treatment of CLN2 disease. In that study, 8 children with mild to moderate CLN2 disease were treated with intraparenchymal administration (infusion of drug into the brain tissue via burr holes in the skull) of an AAV viral serotype encoding the human CLN2 gene, known as AAVrh.10hCLN2. Researchers concluded that the treatment “slowed the progression of disease in children with CLN2 disease, [however], improvements in vector design and delivery strategies will be necessary to halt disease progression using gene therapy.”

In their latest study, Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten disease, published in August, the research team assessed whether the less invasive intracisternal delivery route (infusion into cisterna magna compartment at the base of the skull) would be safe and provide a wider distribution of the TPP-1 enzyme. The study was conducted in nonhuman primates (NHP) with intracisternal delivery to the cerebral spinal fluid of AAVrh.10hCLN2. Overall, results indicate that delivery of the investigational gene therapy via the intracisternal route is safe, and the doses administered led to widely distributed TPP-1 in the brain and cerebrospinal fluid (CSF) at levels that are potentially therapeutic.

Lysosomes play a crucial role in maintaining neuronal health in childhood and in age-related neurodegenerative diseases. Lysosomal function is potently enhanced by an enigmatic lipid known as bis(monoacylglycero)phosphate (BMP). Alterations in BMP levels are linked to neurodegeneration, and its accumulation is increasingly recognized as a ‘firefighter’ response to lysosomal dysfunction. However, the enzyme responsible for BMP production has remained unknown for decades, hindering understanding and translational potential. In this study, The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase, Uche Medoh and colleagues now show that the gene CLN5, the loss of which causes CLN5 Batten disease, encodes the long-sought BMP synthase. This discovery establishes the groundwork for future research on the fundamental aspects of BMP and its therapeutic applications in CLN5 disease, other NCL subtypes, and potentially other neurodegenerative conditions.

September 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.

Tessa Ann Bruner | September 5, 2015 – September 22, 2023

Peyton Allen Bailey Mayes | November 18, 1998 – September 26, 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