It’s time for Batten disease research updates! BDSRA Foundation’s Head of Research & Medical Affairs, Dr. Ineka Whiteman, breaks down Batten disease clinical program updates, research news, and resources in her monthly column, as seen in BDSRA’s monthly newsletter, The Illuminator.
CLINICAL PROGRAM UPDATES
Clinical Trial Tracker
Keep up-to-date with the latest clinical trial and natural history study news with our Clinical Studies Chart on BDSRA’s website. Check it out by clicking here.
Tern Therapeutics Receives US FDA Fast Track Designation for TTX-381 Gene Therapy for the Treatment of the Ocular Manifestations of CLN2 Disease
On April 8, Tern Therapeutics announced that the U.S. Food and Drug Administration (FDA) had granted Fast Track designation to TTX-381. TTX-381 is a novel one-time gene therapy product being developed for the treatment of the ocular manifestations of CLN2 disease.
“We are pleased the FDA has granted Fast Track designation to TTX-381, recognizing its potential to transform the lives of patients with CLN2 disease,” said Alex Bailey, Ph.D., Chief Executive Officer of Tern. “This marks an important milestone for Tern and reinforces the promise of TTX-381 to address the rapid, relentless loss of vision caused by CLN2 disease. With this designation, we look forward to working closely with the FDA to accelerate development and bring this much-needed therapy to patients as quickly as possible.”
Read Tern’s press release here.
Alcyone Therapeutics Advances Pipeline for CLN-301 Gene Therapy for Treatment of CLN3 Disease
Alcyone Therapeutics has announced strategic financing to advance therapeutic candidate “CLN-301” in an expanded collaboration with Nationwide Children’s Hospital in Columbus, Ohio.
CLN-301 is a potential first-in-class AAV9 gene therapy in Phase 1/2 clinical development for CLN3 Batten disease. Formerly licensed to Amicus Therapeutics before being returned to Nationwide in January 2024, the investigational gene therapy has been in clinical trial since 2018, with four individuals treated and followed for over five years (see https://clinicaltrials.gov/study/NCT03770572).
As stated in Alcyone’s recent press release, “Initial results from a Phase 1/2 trial with CLN-301 demonstrated safety and therapeutic effects in a cohort of four patients compared to the natural progression of CLN3 Batten disease. On the Unified Batten Disease Rating Scale, patients in the CLN-301 study remained stable with a slope of -0.22 points per year over three years. By comparison, an increase of 2.86 points per year, leading to an overall 8.6-point increase in impairment over 36 months would be typical according to natural history data. Typical outcomes for patients with CLN3 Batten disease include rapid vision loss, cognitive and motor decline, and behavioral issues. The majority of patients treated with CLN-301 and followed for over five years to date have shown maintenance of skills in motor and cognitive function and overall health compared to natural history data.”
Read Alcyone’s full announcement here.
EVENTS
DID YOU MISS IT?
MEET THE EXPERT WEBINAR – Research update & Communication Strategies in Batten disease
*Recording and resources now available*
On April 2, BDSRA Australia hosted a live webinar event with Speech Pathologists Lottie Morison and Prof. Angela Morgan from The Centre of Research Excellence – Translational Centre for Speech and Disorders at Murdoch Children’s Research Institute (MCRI), Melbourne. They shared the research paper “Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease,” which I co-authored. It was recently published in the Journal of Inherited Metabolic Disease. The BDSRA Foundation is proud to support this important research.
In the webinar, presenters provided an overview of the collaborative research, including practical strategies to support communication for individuals with CLN2 and CLN3 disease, such as tailored speech and language intervention, and augmentative and alternative communication (AAC).
A recording of this webinar and additional speech, language, and communication resources are now available. Please email Nikki Hopkins at info@bdsraaustralia.org for further information.
CLN3 Disease Clinical Research Update – Batten-1 Clinical Trial
On Tuesday, May 13, at 4 PM EDT, the Beyond Batten Disease Foundation will be hosting its next Family Research Call to share an update on the Batten-1 (miglustat) clinical trial for the treatment of CLN3 disease.
Please register here to participate.*
CLN3 Disease General Research Update
On Thursday, May 15, at 3 p.m. EDT, the Beyond Batten Disease Foundation will be sharing an update on the broader CLN3 research landscape, including current preclinical and clinical studies.
Please register here to participate.*
* Please note: Separate registration is required for each event.
NCL2025 Congress ABSTRACTS and REGISTRATION NOW OPEN!
On behalf of the NCL2025 Organising Committee, we are thrilled to be hosting the 19th International Congress on Neuronal Ceroid Lipofuscinosis (NCL) in the stunning surrounds of the Sunshine Coast, Queensland, Australia. As the premier conference on Batten disease, the bi-annual NCL Congress brings together world-leading researchers, healthcare providers, industry partners, innovators, and patient advocacy leaders worldwide.
Abstracts and Early-Bird Registrations are now open! Abstracts must be submitted by June 6.
We hope to see you Down Under! Visit www.NCL2025.org for more details.
As always, thank you for your support and dedication to our shared mission.
Warm regards,
PUBLICATION HIGHLIGHTS – April 2025
Defective anterograde protein-trafficking contributes to endoplasmic reticulum-stress in a CLN1 disease model.
Plavelil N, Appu AP, Gopal KC, Mondal A, Perkins N, Mukherjee AB.
Neurobiol Dis. 2025 Mar 28:106890. doi: 10.1016/j.nbd.2025.106890. Online ahead of print. PMID: 40158736
Magnetic Resonance Imaging as a Readout of CLN5 Gene Therapy Efficacy in Sheep.
Murray SJ, Almuqbel MM, Felton SA, Palmer NJ, Deane AR, Myall DJ, Shoorangiz R, Ella A, Keller M, Palmer DN, Melzer TR, Mitchell NL.
Brain Behav. 2025 Apr;15(4):e70431. doi: 10.1002/brb3.70431. PMID: 40181626
Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease.
Boop S, Nistal D, Barrios-Anderson A, Cherny WB, Chang IJ, Shelkowitz E, Kho T, Goldstein HE, Hauptman J.
Childs Nerv Syst. 2025 Apr 29;41(1):172. doi: 10.1007/s00381-025-06822-4. PMID: 40295329
TPCs: From plant to human.
Klingl YE, Petrauskas A, Jaślan D, Grimm C.
Physiol Rev. 2025 Apr 3. doi: 10.1152/physrev.00044.2024. Online ahead of print.
PMID: 40197126 Review.
