This Issue

Think Rare Expands to CLN2 (Batten Disease): New Live Webinars Coming Up

Building on its work across Mucopolysaccharidosis (MPS), Metachromatic Leukodystrophy (MLD), and Alpha-Mannosidosis (AM), the Think Rare Program is now expanding its focus to Neuronal Ceroid Lipofuscinosis type 2 (CLN2 – Batten Disease), a rare and devastating neurodegenerative disease that affects young children.

Context

CLN2, also known as Batten disease¹, is a rare neurodegenerative disorder that primarily affects children. It typically presents between the ages of 2 and 4 with language regression, seizures, and progressive motor and cognitive decline. Early recognition is critical, yet diagnosis is frequently delayed².

The Excellence in Pediatrics Institute is expanding the Think Rare Program to CLN2, bringing together leading experts to support child healthcare professionals in recognizing early signs, navigating diagnosis, and understanding available management options. Three free live webinars will take place throughout the second semester of 2026, with on-demand access and an EiP Certificate of Attendance available for each session.

Explore the Think Rare Program →

References: (1) CLN2Connection. CLN2 Disease. BioMarin Pharmaceutical Inc.; 2022. www.cln2connection.com/overview/cln2-disease/ (2) National Institute of Neurological Disorders and Stroke (NINDS). Batten Disease (Neuronal Ceroid Lipofuscinosis). National Institutes of Health.

Upcoming Webinar 1 • Wednesday, 10 June

Wednesday, 10th June 2026
16:30 Central European Summer Time (CEST)

Recognizing the Early Signs of CLN2 (Batten Disease)

This webinar addresses the challenge of recognizing CLN2 early in pediatric practice, where initial signs can mimic those of more common presentations, leading to delayed diagnosis or missed referral opportunities. The session introduces CLN2 within the broader spectrum of neuronal ceroid lipofuscinoses (NCLs) and focuses on clinical features that should raise suspicion, including language regression, seizures, and motor changes.

Register for Webinar 1 →

Key Learning Points from Webinar 1

At the end of the webinar, participants will be able to:

1

Describe CLN2 Within the NCLs Spectrum

Position CLN2 disease within the broader neuronal ceroid lipofuscinoses (NCLs) spectrum and its relevance to pediatric practice.

2

Identify Early Signs and Symptom Patterns

Recognize early clinical features and symptom patterns of CLN2 disease, including presentation differences across phenotypes.

3

Recognize Symptom Clustering and When to Escalate

Distinguish symptom progression and clustering cues that set CLN2 apart from other more common pediatric conditions. Triggers for escalation: timely referral and genetic testing when CLN2 is suspected.

References: (1) Nickel M et al. Lancet Child Adolesc Health 2018;2:582–90 (2) Mole SE et al. Orphanet J Rare Dis 2021;16:185 (3) Lourenço CM et al. J Paediatr Child Health 2021;57:519–25

Upcoming Webinar 2 • Wednesday, 15 July

Wednesday, 15th July 2026
13:00 Central European Summer Time (CEST)

Distinguishing CLN2 (Batten): Navigating the Differential Diagnosis and Referral Pathways

This webinar addresses the challenge of distinguishing CLN2 disease from common diagnostic pathways that can delay recognition, including epilepsy, behavioral disorders, and developmental concerns. The session focuses on identifying early diagnostic pitfalls, recognizing progression patterns that should prompt reassessment, and applying a structured differential diagnosis framework. Participants will gain practical insight into when CLN2 should enter the differential, how symptom clustering can shift clinical decision-making, and when urgent referral and timely genetic testing are indicated.

Register for Webinar 2 →

Key Learning Points from Webinar 2

At the end of the webinar, participants will be able to:

Diagnostic Pathways That Delay Recognition

Understand how common diagnostic pathways can delay recognition of CLN2 disease. Apply a structured differential diagnosis framework when CLN2 is a consideration.

Red Flags and Progression Patterns

Identify red-flag symptom combinations and progression patterns that justify escalation beyond common diagnoses.

When to Refer and When to Test

Initiate prompt referral and genetic testing in suspected CLN2, aligned with clinical suspicion and escalation triggers.

References: (1) Fietz M et al. Mol Genet Metab 2016;119:160–7 (expert recommendations) (2) Williams RE et al. Pediatr Neurol 2017;69:102–12 (3) Mole SE et al. Orphanet J Rare Dis 2021;16:185

Upcoming Webinar 3 • Wednesday, 9 September

Wednesday, 9th September 2026
13:00 Central European Summer Time (CEST)

Multidisciplinary Management and Treatment in CLN2 (Batten Disease)

This webinar addresses the practical management of CLN2 disease, where early diagnosis can influence treatment opportunities and long-term care planning. The session focuses on current treatment approaches and supportive and symptomatic care throughout the disease trajectory. It also explores the important role of coordinated multidisciplinary care, highlighting how early intervention, structured communication, and integrated care models support more effective clinical decision-making and reduce burden on families.

Register for Webinar 3 →

Key Learning Points from Webinar 3

At the end of the webinar, participants will be able to:

Treatment and Impact of Early Diagnosis

Outline the treatment approach for CLN2, including key therapeutic and supportive care, and recognize how early diagnosis can influence treatment options, care planning, and long-term management.

The Multidisciplinary Team

Understand the role of multidisciplinary teams in managing CLN2 disease across the disease course.

Coordinated, Family-Centered Care

Apply principles of coordinated, family-centered care within clinical pathways for children with CLN2 disease.

References: (1) Schulz A et al. N Engl J Med 2018;378:1898–1907 (2) Schulz A et al. Lancet Neurol 2024 (3) Mole SE et al. Orphanet J Rare Dis 2021;16:185 (4) Cerliponase alfa, Summary of Product Characteristics, BioMarin International Limited, 12 December 2023 (5) Cerliponase alfa, Prescribing Information, BioMarin Pharmaceutical Inc., 2024

Disclaimer

These webinars are intended for healthcare professionals only. These are promotional webinars sponsored and funded by BioMarin. BioMarin medicines will be discussed.

All adverse event(s) discussed will be notified to the Pharmacovigilance Department of BioMarin. BioMarin does not recommend the use of any product in any manner other than that described in the approved Prescribing Information. Prescribing information and adverse event reporting information can be found here. Regulatory status and approved indications of any product may vary between countries; please check the registration status of any product in your respective country. Please refer to your local Prescribing Information/SmPC before prescribing.

About the Program

The EiP Think Rare Program empowers pediatricians and general practitioners to identify rare and underdiagnosed conditions early. The program currently covers MPS, MLD, and AM, and is now expanding to CLN2 (Batten disease), forming a practical, centralized resource for recognizing rare diseases in clinical practice.

Explore the Learning Zones

Each Learning Zone focuses on a specific rare disease, equipping you with condition-specific knowledge, early signs to watch for, and up-to-date clinical resources. Explore all zones to build both depth in individual conditions and a broader understanding of how rare diseases present in practice.

Mucopolysaccharidosis (MPS)

Explore practical resources to help detect early signs, reduce misdiagnosis, and ensure timely referrals and intervention.

Visit Zone →

Metachromatic Leukodystrophy (MLD)

Recognize early signs often mistaken for common conditions and take action sooner to change the course of a child’s life.

Visit Zone →

Alpha-Mannosidosis (AM)

Recognize the early signs and transform outcomes with earlier, more accurate referral and patient care.

Visit Zone →

Neuronal Ceroid Lipofuscinosis (CLN2)

A new Learning Zone dedicated to CLN2 disease is coming soon. Resources and clinical tools are in development.

Coming Soon