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CLN2 Disease: Current Understandings, Challenges, and Future Directions.

Maria Shock1, Elisa Nigro2, Elizabeth J Donner2

  • 1Division of Neurology, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.

Journal of Child Neurology
|September 18, 2025
PubMed
Summary

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder. Early diagnosis and enzyme replacement therapy are vital, as treatments cannot reverse existing damage but can alter the disease course.

Keywords:
CLN2early detectionenzyme replacement therapyneuronal ceroid lipofuscinosis

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, fatal neurodegenerative disorder in children.
  • Characterized by rapid progression of language regression, motor decline, seizures, and vision loss.
  • Enzyme replacement therapy (ERT) has emerged as a transformative treatment, necessitating early diagnosis.

Purpose of the Study:

  • To review the current understanding of CLN2 disease.
  • Focus on early clinical presentation, diagnostic challenges, and therapeutic advancements.
  • Highlight the impact of ERT and future treatment prospects like gene therapy.

Main Methods:

  • Literature review of CLN2 disease.
  • Analysis of clinical presentation, diagnostic tools, and treatment outcomes.
  • Exploration of emerging therapies and challenges in global access.

Main Results:

  • Early clinical signs can be subtle, leading to diagnostic delays.
  • ERT significantly alters the disease trajectory but cannot reverse established damage.
  • Gene therapy shows promise but faces challenges in efficacy and delivery.

Conclusions:

  • Early identification and intervention with ERT are critical for managing CLN2 disease.
  • Addressing global access disparities and optimizing treatment strategies are essential.
  • Continued research into gene therapy and biomarkers is needed for a potential cure.