FEATURED ARTICLE
Annual Family Conference 2023 – Clinical & Scientific Program Highlights
I’m delighted to share some of the highlights and key takeaways from this year’s Clinical & Scientific program. Dr. Jon Cooper, Dr. Dave Pearce, and I worked together to build a truly family-centered, interactive, and dynamic educational program this year, with a focus on in-person presentations and plenty of opportunities for discussions and questions with our guest speakers.
On Day 1, we were treated to a “Batten Disease 101” interactive session with Dr. Dave Pearce, heard many practical, take-home tips for managing behavior, cognition, and learning changes with Dr. Heather Adams; and learned about the neuroscience of stress and practical tools to avoid caregiver burnout with psychologist, physical rehab specialist, and Batten parent Dr. Joseph Vigil.
Our Ask-A-Doc panel was one of our most popular sessions again this year, with families invited to ask impromptu questions relating to any aspect of Batten disease diagnosis, care, and management. We are grateful to our esteemed panelists (pictured above L-R) Dr. Kourtney Santucci (Children’s Hospital Colorado, Denver), Dr. Erika Augustine (Kennedy Krieger Institute & John Hopkins University), Dr. Heather Adams (University of Rochester Medical Center, NY), Dr. Gary Clark (Texas Children’s Hospital, Houston), and Dr. Elizabeth Berry-Kravis (via video link; Rush University Medical Center, Chicago).
On Day 2, a team of scientists presented a wonderful, cohesive series of presentations on how Batten disease research journeys from lab bench to bedside, from the Basics & History of Batten Disease (Dr. Keigo Takahashi), Models of Disease (Dr. Dave Pearce), Learnings from NCL Models (Dr. Jon Cooper) to application of Experimental Therapy Approaches (Dr. Michelle Hastings). This “dream team” laid a perfect foundation for the Clinical Trial Overview and Update, where I was able to dive right in with the latest developments in more than 10 clinical programs. The current status of these programs is summarized below. Company representatives from Beyond Batten Disease Foundation, BioMarin, REGENXBIO, Theranexus, and the University of Texas Southwestern joined our session speakers on the stage (pictured below) for a lively and extended Q&A.
On behalf of the BDSRA Foundation, I would like to sincerely thank all the speakers and panelists who generously gave up their time to participate and share their invaluable expertise and insights with our community.
Session recordings (for those listed above) are now available to conference registrants in the mobile conference app and the app’s web platform here. Head to “Agenda” find the session, and click “View Recording.”
Copies of slides can be requested from info@bdsrafoundation.org.
NCL Researchers Challenge 2023
As part of this year’s program, we asked Batten disease researchers from all over the world to send in a short, snappy presentation on their team’s main research approach, their latest findings, and what the significance of these findings is for our Batten community. Teams each had three minutes and 3-4 slides to pitch their exciting work to a “lay audience,” and families have the chance to watch and vote for their favorite entries!
We had an impressive 20 entries, which can be viewed individually via the conference app and web platform here. Conference registrants, you can vote for your favorites using the 5-star rating beneath each video. The three highest-rated presentations will have their team’s research featured in The Illuminator.
Get clicking! The deadline to vote is midnight (EST) on Tuesday, August 8th.
CLINICAL PROGRAM UPDATES
For a summary of program updates as delivered at the 2023 Annual Family Conference, view the table below or click here.
Neurogene Inc. | Update – July 18, 2023
Neurogene and Neoleukin Therapeutics have announced an agreement to merge. Read the full press release by clicking here.
Click here to read Neurogene’s letter to the patient community.
FAMILY REGISTER
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 here.
Thank you for participating in this important initiative!
BATTEN DISEASE CENTERS OF EXCELLENCE
Applications are now open – until September 15!
At the Annual Family Conference, BDSRA Foundation President & CEO Amy Fenton Parker and Board Member Dr. David Pearce were delighted to announce that the Batten Disease Centers of Excellence program is now open and accepting applications. Health Systems and Academic Medical Centers are encouraged to apply for this designation.
For more information and to apply, click here.
Applications close September 15, 2023.
INTERNATIONAL RESEARCH OPPORTUNITY
Attention CLN2 and CLN3 families – ENROLLING NOW
YOU have the power to make a difference!
Significant challenges in speech, language, and communication in individuals affected by Batten disease have long been widely recognized, yet the causes and nature of these deficits remain poorly understood.
Our friends at BDSRA Australia are co-funding and partnering with Murdoch Children’s Research Institute (MCRI) in Melbourne Australia, to support a world-first research study into the characterization of speech and language in individuals with Batten disease, and YOU’RE INVITED to participate in this important research.
Participation is open to individuals worldwide who are:
– affected by CLN3 or CLN2 Batten disease
– age 6 months and older
– who are 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 contacting the MCRI team at geneticsofspeech@mcri.edu.au.
The research team entered a 3-min video into this year’s Annual Family Conference “NCL Researchers Challenge” – see above (Entry No. 5, Lottie Morison).
PUBLICATION SUMMARIES – JULY
Given the large amount of content in this month’s “conference” edition of The Illuminator, Publication Summaries for July will be combined with the August Edition!
