Newsroom Archives: News

Beyond Batten Disease Foundation is proud to share a major milestone for families, clinicians, and researchers working to improve care for individuals affected by CLN3 juvenile Batten disease: the publication of the first comprehensive international guidelines for the diagnosis and management of CLN3 disease. Published in Orphanet Journal of Rare Diseases, the article provides an evidence- and consensus-based tool designed for healthcare professionals involved in CLN3 disease care and notes that, until now, no comprehensive clinical recommendations existed for CLN3 disease.

This achievement is especially meaningful because BBDF helped make it possible from the project’s early development through completion. In September 2021, BBDF announced a formal sponsorship agreement with Care Beyond Diagnosis to establish internationally validated clinical management guidelines for CLN3 disease. At the time, BBDF recognized that methodically and transparently developed guidelines could help establish and improve standards of care, support access to effective management, and help families and clinicians navigate medical necessity.

BBDF’s investment was about more than funding a publication. It was about closing a critical gap for the CLN3 community. Care Beyond Diagnosis noted that BBDF’s financial commitment was important to keep the program moving forward and that BBDF would also be instrumental in helping get the completed guidelines into the hands of families and caregivers. Today, that commitment has reached the finish line: the guidelines are published, accessible, and available to support care conversations around the world. Read the guidelines here.

The completed publication brought together 39 international experts from eight specialties, including the perspective of patient advocacy, and resulted in 53 recommendation statements across 11 care domains. These domains include diagnostics, clinical recommendations and management, assessments, social considerations, ocular management, epilepsy and seizures, nutrition, respiratory health, sleep and rest, and end-of-life care.

The recommendations also reflect the kind of practical, multidisciplinary support families need throughout the course of CLN3 disease. Diagnostic delay and misdiagnosis remain major challenges, especially when vision loss—the most common early sign—is mistaken for more common eye conditions. The publication emphasizes early recognition, holistic management, and coordinated care, including support for families navigating CLN3 disease outside of specialist centers.

Importantly, BBDF’s support helped make the work possible while preserving the independence of the clinical recommendation process. The program was run separately by Care Beyond Diagnosis, that sponsors were not invited to participate in statement development, voting rounds, or manuscript preparation, and that sponsors were updated only on task completion.

This project is a powerful example of BBDF’s mission in action. Since its founding in 2008, BBDF has worked to eradicate juvenile Batten disease by raising awareness and funds to accelerate research for a treatment or cure. The foundation’s approach includes funding high-impact projects, filling gaps in juvenile Batten disease research, and working with scientists and project managers to identify, develop, coordinate, and monitor efforts that move the field forward.

For families, these recommendations offer a framework to help guide discussions with clinicians, advocate for care aligned with international standards, and support shared decision-making across the lifespan. For clinicians, they provide a practical reference for earlier diagnosis and more consistent, multidisciplinary management. For BBDF and our community of donors, families, advocates, and partners, they represent donor-powered impact from start to finish.

We are grateful to Care Beyond Diagnosis, the international experts and clinicians who contributed to this work, the patient advocates whose lived experience shaped the recommendations, and BBDF Principal Scientific Consultant Ineka Whiteman, PhD, who co-authored the publication. BBDF is proud to have supported this project through funding and in-kind support, helping turn a recognized community need into a completed, published resource for the global CLN3 community.

Read the full recommendations in Orphanet Journal of Rare Diseases.

Lyon, France – Austin, Texas, United States – Mai 13, 2025 – 6.00 pm CET –Theranexus, a

biopharmaceutical company developing drug candidates for rare neurological diseases and the Beyond

Batten Disease Foundation (BBDF), today announced new real-world data strongly supporting the efficacy of

Batten-1 (miglustat) as a treatment for CLN3 disease, also known as juvenile Batten disease.

The analysis evaluated visual acuity outcomes in CLN3 patients treated with Batten-1 (miglustat, n=11),

versus untreated patients (n=22), using real-world data collected from natural history studies, family

interviews, published reports, and prescribers’ personal communications. This analysis focused on patients

with measurable visual acuity at baseline (visual acuity score ≤ 1.9 LogMAR) and compared the progression

of visual function between groups over a 12-month period. To ensure an appropriate comparison between the

treated and untreated groups, a propensity score methodology was applied.

The analysis demonstrated a statistically significant and clinically meaningful difference in favor of

Batten-1 treatment on visual function with a notable preservation of visual acuity in treated patients

compared to untreated patients. The notable preservation of visual acuity in treated patients compared to

untreated patients add to the positive results from the Phase 1/2 study of Batten-11 and underscore the

potential of miglustat to address critical unmet needs in Batten disease. The visual acuity endpoint used in

the real-world analysis is the same as that selected for the planned pivotal Phase 3 clinical trial of Batten-1,

a design endorsed by the U.S. Food and Drug Administration (FDA)2 and the European Medicines Agency

(EMA)3.

“We are deeply grateful to the patients, their families, and the healthcare providers who made this important

analysis possible by agreeing to share their experiences and those unique clinical data. This collaboration has

been essential in demonstrating Batten-1 potential to change the course of CLN3 disease” explains Craig

Benson, Chairman of the Beyond Batten Disease Foundation.

“Achieving near stabilization of visual acuity over 12 months in CLN3 patients is truly remarkable and

unprecedented. In this population, we would typically expect a relentless decline in vision. These results offer

real hope for altering the natural progression of the disease,” commented Dr. Gary Clark, MD, Chief of

Neurology and Developmental Neuroscience at Baylor College of Medicine, Houston, Texas.

“These results have been observed using the primary efficacy endpoint defined in our Phase 3 trial, this is

highly reassuring. These findings strongly support our development strategy and reinforce the relevance of our

endpoint in demonstrating Batten-1 potential efficacy” concluded Marie Sebille, Chief Medical Officer at

Theranexus.

Lyon, France – Austin, Texas, United States – November 19, 2024 – 6 PM CET – Theranexus, a biopharmaceutical

company innovating in the treatment of rare neurological diseases, and the Beyond Batten Disease Foundation

(BBDF) presented the final and positive results of the Phase I/II trial to evaluate Batten-1 in 6 young adult patients

with CLN3 Batten’s disease after 18 months of treatment, at the Child Neurology Society Annual Meeting in San

Diego, 11 to 14th November.

This presentation highlights the strong safety profile of miglustat in CLN3 Batten disease patients and underscores

the positive efficacy data gathered during this trial. The findings demonstrate clear target engagement, a

biological effect, and are suggestive of a stabilization of disease progression over the treatment period. All trial

participants chose to continue receiving miglustat through the BBDF’s early access program, with no safety

concerns reported after two years of ongoing treatment.