Video library

CLN2 disease video library

Learn more about CLN2 disease by viewing videos that cover a range of topics, from symptoms to disease management.

CLN2 disease: the patient journey

In this recording, introduced by Professor Paul Gissen (Great Ormond Street Hospital, London, UK), Gail and Matthew Rich (parents to three children, two of whom have CLN2 disease) provide a personal insight into life with CLN2 disease and the physical and emotional impact it can have on children and their families. They discuss their journey starting with the appearance of first symptoms, the subsequent path to reaching a correct diagnosis, and family life living with CLN2 disease. They also discuss the wider impact of the disease, highlighting the importance of a support network.

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

  • Introduction (Paul Gissen) (0:00–0:54)
  • CLN2 type NCL (0:54–02:02)
  • Patient histories of Nicole and Jessica (02:03–04:50)
  • Patient Journey from a family’s perspective, an introduction (05:09–05:30)
  • Cherished moments for the family (05:30–10:59)
  • The diagnosis journey for Nicole (11:00–30:23)
  • Jessica’s journey to diagnosis (30:23–37:01)
  • The family’s new daily routine with CLN2 disease (37:02–44:56)
  • The impact of CLN2 disease on the family (44:56–53:47)
  • The wider impact of CLN2 disease (53:48–1:03:37)
  • The importance of a support network and making a difference (1:03:38–1:14:22)

Recorded on 28 September 2020

EU-CLN2-00026 / May 2021

CLN2 disease: a race against time

Dr Paul Gissen, MBChB, PhD, FRCPCH
University College London
Great Ormond Street Hospital for Children
NHS Foundation Trust

An overview of the predictable nature of CLN2 disease and when symptoms develop throughout the lives of affected children.

Understanding the CLN2 Disease Clinical Rating Scale

Dr Alfried Kohlschütter, MD
Professor of Paediatrics
Department of Paediatrics
University Medical Center Hamburg-Eppendorf
Hamburg, Germany

Hear how the CLN2 disease clinical rating scale was created to help physicians quantitatively track disease progression and learn more about the important role carers play in providing disease progression insights as they track and monitor routine functions in their child with CLN2 disease.

The importance of seeing the early signs of CLN2 disease

Dr Angela Schulz, MD, PhD
Children’s Hospital
NCL Specialty Clinic
International Center of Lysosomal Storage Disorders
University Medical Center Hamburg-Eppendorf
Hamburg, Germany

A discussion about the early signs of CLN2 disease (new-­onset, unprovoked seizures and language delay) and how earlier diagnosis may benefit the child and their family.

The use of electroencephalogram (EEG) with low-frequency (1-2 Hz) intermittent photic stimulation (IPS) to detect CLN2 disease

Dr Nicola Specchio, MD
Department of Neuroscience
Bambino Gesù Children’s Hospital, IRCCS
Rome, Italy

Discover the unique clinical implications that using EEG with low-frequency IPS has for children with CLN2 disease.

CLN2 disease management

Dr Angela Schulz, MD, PhD
Children’s Hospital
NCL Specialty Clinic
International Center of Lysosomal Storage Disorders
University Medical Center Hamburg-­Eppendorf
Hamburg, Germany

Key aspects of disease management are covered in this video, including the multidisciplinary team approach, medication strategies, and the importance of physical therapy.

Patient advocacy

Margie Frazier, PhD
Executive Director
Batten Disease Support and Research Association USA

Andrea West
Chief Executive
Batten Disease Family Association UK

Meet Margie and Andrea—2 dynamic leaders who are dedicated to supporting the families of children with CLN2 disease through their respective Batten disease advocacy organizations.