October 2023                                                                            Volume 34, Issue 10

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.

Watch the video below to learn more about $5 Fridays and click the button below to donate to BDSRA.

Thank you to everyone who attended the BDSRA Boo Bash and a special thank you to our sponsor, Our Promise To Nicholas Foundation. We had a spook-tacular time reading a story, building a craft, and laughing at Halloween jokes!

The next BDSRA virtual holiday party will take place in February for Valentine’s Day.

Click the button below to watch the Boo Bash highlight reel!

BDSRA President & CEO Amy Fenton Parker and Head of Research and Medical Affairs Dr. Ineka Whiteman traveled to Hamburg, Germany, for the 18th International Congress on NCL.

Click the button below to read their summaries and takeaways and scroll to read Dr. Whiteman’s monthly column with more information.

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

BDSRA Marketing & PR Coordinator Patrick Kotnik was a panelist on Rare Disease Legislative Advocates‘ latest quarterly webinar titled, “Share Your Story Through Social Media.”

Kotnik’s presentation focused on social media storytelling from an organizational perspective and highlighted BDSRA’s social media channels.

Click the button below to watch the webinar! Kotnik’s presentation begins at the 16-minute mark.

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!

On October 17, the BDSRA Foundation spent the day networking and speaking with Ohio legislators regarding bills impacting the rare disease community in the Buckeye State.

Thank you to State Senators Al Landis, Bill DeMora, and Hearcel Craig and State Representatives Ismail Mohamed and Phil Robinson for taking the time to listen to advocates and learn more about Batten disease.

Watch the video below and click the button for a full summary of the event by BDSRA.

BDSRA President & CEO Amy Fenton Parker and Marketing & PR Coordinator Patrick Kotnik summarize Rare Disease State Advocacy Day in Ohio and their meetings with Ohio legislators and fellow rare disease advocates in this video.

Batten mother and BDSRA board member Suzette James was a panelist on FDA CBER’s fall RegenMedEd Webinar titled, “Warrior Families: Advancing Regenerative Medicine Through Science.”

Click the button below to read a Q&A about her experience.

This Toolbox Tuesday resource focus features TheConnectedParent.net.

Designed to be a resource to parents and caregivers, this site allows you to conduct keyword searches of experts and programs, including diet, learning, and mental health. Members can also add resources and reviews. As always, the BDSRA Foundation encourages our community to be mindful of how your online information will be managed.

Click the button below to read TheConnectedParent.net’s privacy statement.

As caregivers, we want to meet our children where they are with what they need in ways that are appropriate, honest, and truly supportive. This can feel tricky and even scary in the face of a serious diagnosis – whether it is the child themselves who is sick or a sibling, cousin, or classmate.

Join our friends at Courageous Parents Network to learn how to navigate diagnosis conversations with children and how to use developmentally appropriate language, concrete tools, and play to support their understanding and learning.

Click the button below to register to attend this virtual event.

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: 

A large team of researchers at Washington University School of Medicine in St. Louis has received nearly $8 million from the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (NIH) to help determine the root causes of brain cell death in fatal pediatric neurodegenerative diseases.

Read the story below, including quotes from Dr. Jon Cooper and Dr. Marco Sardiello.

Last month, BDSRA Head of Research & Medical Affairs Dr. Ineka Whiteman attended NCL 2023 with President & CEO Amy Fenton Parker, in the beautiful city of Hamburg, Germany.

Attended by over 200 in-person delegates, this biennial meeting provides a forum for scientists, clinicians, and biotech industry partners to present and discuss the latest advances in basic science, translational, and clinical research across all forms of Batten disease. Below is a daily overview of the scientific program.

Day 1: A Global NCL Patient Group meeting was held, co-chaired by our own Dr. Whiteman and Dr. Frank Stehr from the NCL Stiftung, Germany. Eleven patient groups and six industry companies attended, with discussions focusing on potential collaborative initiatives. Biotech partners delivered clinical program updates and engaged in open dialogue with our patient groups.

Day 2: Basic Science Day: This day’s presentations detailed the latest discoveries in NCL biology, novel roles, and functions of various NCL-related genes and proteins. Researchers showcased cell and animal models of NCL, in addition to new biomarkers that serve as useful, objective indicators of disease progression.

Day 3: Translational Research Day: Presentations focused on therapeutic approaches to treat various forms of Batten disease, including small molecule, cell, and gene-based therapies.

Day 4: Clinical Research Day: Clinician investigators and biotech companies presented some of the latest results from new and ongoing in-human clinical studies. This is an exciting time for NCL therapeutic development, with seven studies currently active around the world, including treatments with gene therapy, small molecules, and repurposed drugs across four forms of Batten disease, and several others in the pipeline (a summary of all studies can be viewed by clicking here).

Dr. Whiteman presented research on the CLN3 disease timeline of symptom onset and progression, developed in collaboration with leading clinicians from the U.S., Germany, Denmark, and Australia. We will share more on this work in the near future.

Day 5: Family Day: This is an NCL congress tradition, where families are invited to attend a half-day session dedicated to them. Lay summaries from all the scientific and clinical talks from the week (there were over 60!) were presented to families, with time for questions and discussion. At lunchtime, a “Marketplace” was set up for families to visit booths with information about specific research projects, clinical trials, patient resources, advocacy groups, and more.

We would like to thank Co-Chairs Dr. Angela Schulz and Dr. Jonathan Cooper for their extraordinary work and efforts in bringing this event and scientific program together. Next up is NCL 2025, which we’re excited to share…. is heading down to Australia!

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

The Beyond Batten Disease Foundation (BBDF) and biopharmaceutical company Theranexus, have presented interim results for efficacy and safety after 12 months of treatment in their Phase I/II trial for CLN3 disease at the NCL 2023 Congress in Hamburg, Germany last month.

The new data further supports the 6-month treatment results announced in mid-June 2023, and show after 12 months of treatment:

• An average 32% decline in neurofilament light chain (NfL) levels was observed in patient serum (a 17% reduction was observed after 6 months’ treatment). NfL is a recognized biomarker of neurodegeneration.
• There was a 64% reduction in NfL observed in the cerebrospinal fluid (CSF); and
• A reduction in glycosphingolipids (GSLs), including a 45% reduction in Gb3. (accumulation of GSLs is known to be toxic to neurons).

Clinically, there was notably less worsening of motor symptoms evaluated by the modified UBDRS physical assessment subscale after 12 months, compared to the expected progression observed in natural history cohorts.

To read more, please click the button below to read the official press release, published on September 29.

Thank you to all those families who have already signed up and participated in the world-first research study into the characterization of speech and language in individuals with Batten disease (CLN2 and CLN3 disease).

To complete the project, the research team is seeking a few more participants and they would be grateful for your help.

• Affected by CLN3 or CLN2 Batten disease
• Age 6 months and older
• Verbal or non-verbal

Bereaved caregivers are also invited to take part in this study.

To find out more about the project and how to get involved, download the flyer by clicking here or contact the team at Murdoch Children’s Research Institute, Melbourne Australia at geneticsofspeech@mcri.edu.au

In one paragraph, how would you describe your child’s condition?

The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), develops and studies computer-based technologies to better understand medical conditions that have known or suspected genetic causes.

The team is currently studying how different artificial intelligence (AI) models, including public models like ChatGPT, can identify genetic conditions. These models are a growing part of healthcare, and this project seeks to compare how well different models work.

For this study, they are collecting short descriptions from people with genetic conditions (or their carers) so that these different models can be tested. Participants are asked to send one paragraph describing the condition (eg. Batten disease, and subtype) in their child. Please use whatever description is most natural for you. That is, use your own words in the way you might describe the condition to a clinician meeting you for the first time. All contributions will be de-identified.

A copy of the information leaflet can be downloaded here.

Please send descriptions to the NIH project team by emailing medicalgenomicsunit@nih.gov

For any inquiries, please feel free to reach out to the above email or contact Dr. Ineka Whiteman at research@bdsraaustralia.org.

Have you completed the Family Register form?

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 2-3 minutes to complete and can be accessed by clicking the button below.

Thank you for participating in this important initiative!

Recurrent non-epileptic episodes of frightened facial and body expression reportedly occur in more than half of post-adolescent patients with CLN3 disease. Clinically, the episodes look similar to the seizures normally seen following acute traumatic brain injury (TBI), known as paroxysmal sympathetic hyperactivity (PSH). This review by Prof. John Ostergaard at Aarhus University Hospital, Denmark, suggests episodes in patients with CLN3 disease are often triggered by separation (e.g., from the primary carer), loud sounds, or the exposure to “uncomfortable stimuli” such as lifting the patient against gravity, bathing, or brushing teeth. Like PSH following TBI, the attacks are difficult to prevent and/or treat. According to this review, published in Frontiers in Neurology, the underlying mechanisms causing these episodes in the degenerative process of CLN3 disease, are three-fold: (1) disturbed somatosensory modulation leading to a reduced threshold of pain; (2) degeneration within the neural anxiety/fear circuit leading to an imbalance of inhibition and excitation pathways; and (3) with advancing age, there appears a significant dominance of the sympathetic “fight or flight” neural system. Based on these observations, Prof. Ostergaard discusses a rational approach to prevent and/or treat the attacks. Read more here.

Major facilitator superfamily domain-containing protein 8 (MFSD8) is a transmembrane protein that has been reported to function as a lysosomal chloride channel. In humans, homozygous mutations in MFSD8 cause a late-infantile form of NCL, CLN7 disease. Here, researcher Robert Huberman and colleagues at Trent University Ontario, Canada, used the amoeba Dictyostelium discoideum, to examine the effect of MFSD8-deficiency on the “secretome” (the overall secretory factors and proteins released from the cells) during the early stages of multicellular development. Results revealed that MFSD8 deregulates and disrupts protein secretion and protein localization within the cell, and/or causes the release of proteins not normally secreted by healthy cells. Interestingly, loss of MFSD8 was shown to alter the release of proteins also known to interact with CLN5, and loss of MFSD8 or CLN3 affected the release of common proteins. Together, this study published in the European Journal of Cell Biology, reveals the impact of MFSD8 loss on the secretome and lays the foundation for follow-up work that investigates the role of altered protein release in CLN7 disease. Read more here.

October 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.

Muhammet Talha Bilgiç | July 10, 2009 – August, 24 2023 

Nicole Thomasena Rich | March 1, 2012 – October 23, 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