Children with CLN2 disease

Podcast library

CLN2 disease podcast library

Learn more about CLN2 disease by listening to podcasts, which discuss early diagnosis and examine the clinical and laboratory diagnostics involved.

This podcast series was initiated and funded by BioMarin and is intended for a healthcare professional audience outside of the US.

CLN2 disease: early diagnosis

In this podcast, Professor Paul Gissen (Great Ormond Street Hospital, London, UK), and Professor Nicola Specchio (Bambino Gesù Children’s Hospital, Rome, Italy) provide an overview of the key red flag signs and symptoms associated with CLN2 disease and differential diagnoses at initial seizure presentation. They also focus on the burden of illness and emphasise the importance of early diagnosis, with a view to implement timely disease-specific management strategies.

The following topics are covered (italicised numbers denote the time at which they are discussed in the podcast):

  • CLN2 disease clinical presentation; 3.00
  • Differential diagnoses at initial seizure presentation; 6.38
  • The role of different healthcare professionals in diagnosing CLN2; 12.46
  • Reducing delays in diagnosing CLN2 disease; 21.05
  • Communicating with patients and caregivers 24.40
  • Communicating with colleagues; 30.38
  • Importance of early diagnosis; 32.27

Recorded on 28 August 2020
EU/CLN2/0948

CLN2 disease: diagnostic algorithm

Professor Paul Gissen (Great Ormond Street Hospital, London, UK), and Professor Nicola Specchio (Bambino Gesù Children’s Hospital, Rome, Italy) provide an overview of the CLN2 disease diagnostic algorithm and examine the clinical and laboratory diagnostics involved. The podcast references the use of gene panels and the recommendations for gene panel testing in paediatric epilepsy and focusses on reducing the diagnostic journey for CLN2 disease.

The following topics are covered (italicised numbers denote the time at which they are discussed in the podcast):

  • Recap of the ‘early diagnosis’ podcast (clinical presentation of CLN2 disease, epilepsy and the role of electroencephalography and magnetic resonance imaging); 2.58
  • Suspicion of CLN2 disease – tripeptidyl peptidase 1 (TPP1) enzyme activity and genetic testing; 13:35
  • Casting a wider net – suspicion of genetic involvement1; 19:02
  • Advantages and disadvantages of gene panels or whole genome testing; 25:00
  • Gold standard for diagnosing CLN2 disease; 35:15

Recorded on 28 August 2020
EU/CLN2/0949

References: 1. Mei D et al. Mol Diagn Ther. 2017;21:357–373