February 2024                                                                            Volume 35, Issue 2

BDSRA President & CEO Amy Fenton Parker traveled to Washington, D.C. for Rare Disease Week on Capitol Hill, while BDSRA Database Manager Noah Siedman advocated for the Batten community in San Francisco.

Scroll down to learn more about their visits.

At the beginning of Rare Disease Week, we introduced our new advocacy module and invited the Batten community to send emails to their congressional representatives. The module included a pre-written letter, asking participants’ respective representatives to drive legislative efforts prioritizing increased funding for rare disease research and for them to urge the FDA to adopt more flexible standards for drug approval for rare diseases.

In just a few days, the Batten community delivered, tallying 613 total Batten advocates and 1,650 emails sent to legislators. We are blown away by our community’s participation and we thank you for lifting your voices and continuing to fight for improvements for the Batten and rare disease communities.

We know the fight is an uphill battle but just know how much your voices are valued and the impact they can have for change.

From the bottom of our hearts, thank you! 💜

Annual Family Conference planning is underway! While you make your travel plans or ponder attending in July, here’s a brief look at what’ll be offered in St. Louis this summer. Stay tuned for updates by following BDSRA on social media and keeping an eye on your email.

We thank everyone who provided an idea for this year’s conference theme. The winning selection will be announced in March.

Also, don’t forget about International Batten Disease Awareness Day on June 9. We’ll unveil information about a returning contest soon!

We’re surrounded by love, always. 💕

Thank you to everyone who attended the Valentine’s Day Party last month. It was yet another reminder of just how much love the Batten community has for one another. See you this summer!

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.

While in D.C. for Rare Disease Week, Amy met with the legislative offices of Ohio Senators Sherrod Brown and J.D. Vance and Ohio Representatives Troy Balderson and Emilia Sykes, fellow advocates, and industry partners. 

In San Francisco, Noah spoke about his experience as a rare disease sibling to biotech and advocated for the Batten community in a meeting with BioMarin. Both Noah and Amy tuned into the Rare Disease Day at the FDA virtual event held on Friday, March 1.

Stay tuned to our website and social media for more information from Amy and Noah.

In late January, BDSRA signed on to a FY25 letter to President Biden urging him to increase federal investment in the epilepsies.

Click here to read the letter.

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! 

Virtual grief chats will take place on the third Sunday of every other month at 7 p.m. EST. The next chat is scheduled for Sunday, April 21, 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.

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: 

Over the past six months, we have featured the winning researchers and teams from the NCL Researchers Challenge at the 2023 Annual Family Conference in July. In our final installment, this month we are delighted to showcase Prof. Angela Morgan and Ph.D. candidate Lottie Morison from the Murdoch Children’s Research Institute (MCRI) in Melbourne, Australia. Lottie’s presentation was awarded third place in the Researchers Challenge for her presentation: Communication is connection: Understanding speech, language, and non-verbal communications in Batten Disease (CLN2 & CLN3).

Prof. Angela Morgan

Ph.D. candidate Lottie Morison

We recently interviewed Prof. Angela and Lottie to learn more about this exciting and important research.

*Note*: The research study discussed in this interview is still actively recruiting. The BDSRA Foundation would also like to take this opportunity to give families one final chance to participate in the study before it closes on March 28, 2024. The team is seeking 10 more families to enroll and complete the study (five CLN2 and five CLN3 families). The online assessment is reasonably brief (and enjoyable!), and Lottie is wonderful with our young participants!

You can read more via the link above or contact the team directly at geneticsofspeech@mcri.edu.au.

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.

As many of you know, we have been awaiting further news regarding the future of the CLN3 and CLN6 gene therapy clinical programs led by Amicus Therapeutics. On February 6, BDSRA Foundation along with its partner organizations around the world, released a joint statement to the global Batten disease community regarding the following important updates relating to both programs.

In a letter to the community, Amicus advised that it has decided to return the rights to all its Batten programs to The Abigail Wexner Research Institute at Nationwide Children’s Hospital (NCH), which includes the CLN3 and CLN6 clinical programs, and the CLN8 preclinical program. As such, NCH is now responsible for determining the next steps in developing those programs and for all follow-up with the CLN3 and CLN6 clinical trial participants and their families.

NCH has reassured our community that it remains committed to moving its CLN3 and CLN6 programs forward. Dr. Emily de los Reyes at NCH has provided further details on those plans in a separate Community Letter, which can be viewed here.

On February 15, important news broke regarding progress in the CLN1 gene therapy program ‘TSHA-118’, currently in Taysha Gene Therapies’ clinical development pipeline. In a statement, Taysha Gene Therapies announced that it had provided investigational clinical trial material for TSHA-118 to support the investigator-initiated trial (IIT) under an individual-patient Investigational New Drug (IND) at RUSH University Medical Center in Chicago, Illinois.

BDSRA Foundation along with its partner organizations around the world, were quick to respond, issuing a joint statement to the global Batten disease community that afternoon. A copy of the statement, including further details on the study, can be viewed here.

*Please also see our note to families below regarding Natural History Studies for CLN1 disease.

During the WORLDSymposium in February, JCR Pharmaceuticals held a small, in-person meeting with patient advocate groups and families affected by CLN1 disease. BDSRA President Amy Fenton Parker attended in person, while I joined the group online.

During the meeting, an update was shared relating to JCR’s investigational Enzyme Replacement Therapy candidate ‘ATG-194’, an intravenously administered enzyme that is shown to cross the blood-brain barrier. ATG-194 has been previously studied in an ‘n of 1’ investigator-led study in a child with CLN1 disease under compassionate use in Germany (learn more here), with additional research and development ongoing. 

The main purpose of the meeting was to bring experts together to discuss the initiation of a natural history study for CLN1 disease, and how we might all work together – families, patient groups, clinicians, and industry – to advance robust collection and documentation of clinical data from CLN1 patients around the world. This study will lay an important foundation for the future development of therapies for the treatment of CLN1 disease. We look forward to sharing further updates on this program in the future.

*Please also see our note to families below regarding Natural History Studies for CLN1 disease.

Leaders from JCR Pharmaceuticals and MEDIPAL along with CLN1 families and patient advocates attended the San Diego meeting in person and online in February.

In February, Collaboration Pharmaceuticals hosted a virtual meeting with patient advocate groups and CLN1 families from around the world. The purpose of the meeting was to share program updates relating to their lead pipeline product – a recombinant human enzyme replacement therapy delivered directly to the brain (intracerebroventricular or ICV) for the treatment of CLN1. Currently, in preclinical development, the efficacy of this ERT has been described in mouse and sheep studies conducted by Prof. Jonathan Cooper and colleagues. Collaboration Pharmaceuticals is currently manufacturing the protein in preparation for IND-enabling toxicity testing.

Discussion is also focused largely on natural history studies for CLN1 disease to advance robust collection and documentation of clinical data from CLN1 patients around the world. We look forward to sharing further updates on this program in the future.

*Please also see our note to families below regarding Natural History Studies for CLN1 disease.

Natural history studies gather information on how a disease affects a person over a lifetime. Natural history data gathered robustly and systematically can help inform our understanding of the disease, improve quality of care, and is essential for the design and execution of clinical trials of potential new therapies, particularly in rare diseases like all forms of Batten disease.

With the ongoing development of multiple programs for the treatment of CLN1 disease as described above, BDSRA and other patient advocacy groups are well-placed to work together with families, clinicians, researchers, and industry to help facilitate and drive natural history studies for CLN1 disease. To enable us to support the advancement of all of these programs, we encourage all families who are affected by CLN1 disease around the world (both currently caring or bereaved) to reach out to BDSRA and complete the Family Register form.

This Register is not limited to CLN1 families only. Research studies are ongoing across at least seven forms of Batten disease. To stay informed of developments and research opportunities, we encourage families of all CLN types to complete this form if you have not already.

As REGENXBIO continues to actively explore partnership opportunities to enable the ongoing development of its CLN2 gene therapy programs (see previous announcements on this here), it was encouraging to see preliminary data from the RGX-381 (ocular) and RGX-181 (CNS) gene therapy programs presented at the WORLDSymposium in San Diego in February. The presentations were:

RGX-381: Interim results from the first-in-human clinical trial of an investigational gene therapy for the treatment of ocular manifestations of CLN2 Batten disease

Presented by Dr. Christina Ohnsman, REGENXBIO

Interim results from the first-in-human intracisternal dosing of RGX-181 investigational AAV9 gene therapy in a child with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2)

Presented by Dr. Carolina Fischinger Moura de Souza, Hospital de Clínicas de Porto Alegre, Brazil  

BDSRA is pleased to share that REGENXBIO has agreed to join us on a WORLDSymposium highlights webinar in the coming weeks, where they will present these preliminary results and participate in a live Q&A.

Further details on this event will be posted soon, so keep an eye out on your inbox and our social media pages.

Phase 3 trial of Batten-1 for treatment of CLN3 disease

You may have seen the recent Theranexus press release. Theranexus has run into some unanticipated delays. Options are currently being considered and BBDF will schedule a family research call to follow up as soon as we have more definitive information and timelines to share with you.

If you would like to be included on BBDF’s email list for important updates and information, please email info@beyondbatten.org.

Have you joined the Register yet?

In recent months, we’ve had a wonderful response to our calls for families to join our 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 and natural history opportunities.

The Register also enables BDSRA to better understand the prevalence of Batten disease, including the different subtypes and geographical locations around the world. 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!

Understanding the patient journey, treatment approaches, and potential therapeutic opportunities for CLN2 disease

BDSRA is leading this new survey-based study and invites all parents and caregivers (current or bereaved) of a child/children affected by CLN2 disease to participate.

Your insights and experiences as a caregiver for an affected child/children are invaluable in helping us to understand and ultimately help improve the standards of care and treatment options for patients. The goal of this survey is to gain insight into the Batten disease community’s experience with current treatment options, the overall understanding of gene therapy, and the hopes and concerns of current and bereaved caregivers when thinking about gene therapy as a possible treatment for CLN2 disease. The responses provided will assist BDSRA and potential industry partners in better understanding your family’s CLN2 disease journey and help guide future therapeutic research strategies.

The survey is open to U.S. and international families. No personally identifiable information will be collected in this survey.

For further information and to complete the survey, please click here. For any questions, please reach out to Dr. Ineka Whiteman at research@bdsraaustralia.org.

The final day to complete the survey will be March 29, 2024.

Thank you in advance for your time and participation in this survey.

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 USA.

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.

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

Emily Susan Meyer | May 31, 1995 – February 10, 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 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!

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.

That’s the power of FIVE. 

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

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.

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