COURSE DESCRIPTION

Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system, ultimately affecting intellectual and motor function. Early-onset clinical manifestations are often overlooked or confused with other conditions causing confusion among non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment have significant consequences on the conditions’ development and the patient’s health and quality of life. This delay in referral and treatment must be overcome. The 2-hours course covers the basics of MLD, practical neurological case studies that offer the opportunity to connect the theory with the practice and treatment options.

TARGET AUDIENCE

This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Neurologists, and other physicians and healthcare professionals interested in neurology.


DISCLOSURE

The scientific content of this course has been developed free from the control of commercial interest and presents a scientifically balanced perspective of the subjects included.

LEARNING OBJECTICVES

  • Avoiding Missing the Early-onset Clinical Manifestations of MLD – Reviewing the main paediatric presentations of MLD and understanding the challenges of early diagnosis and the importance of an early referral

  • MLD Screening Update - Pre-Symptomatic Identification – Reviewing disease onset, clinical course, treatment options and the importance of the identification of pre-symptomatic patients

  • MLD Disease Trajectories, Clinical Characteristics and Treatment Options - Reviewing typical MLD disease trajectories and understanding the MLD patient and parent journey following the start of treatment

COURSE CURRICULUM

  • 1

    MODULE 1: Early-onset Clinical Manifestations

    • Video: Avoiding Missing the Early-onset Clinical Manifestations of MLD in Everyday Practice

    • Further Readings (Optional)

    • Test of Module 1

  • 2

    MODULE 2: Pre-Symptomatic identification

    • Video: MLD Screening Update - Pre-Symptomatic identification

    • Further Readings (Optional)

    • Test of Module 2
  • 3

    MODULE 3: Disease Trajectories and Treatment Options

    • MLD Disease Trajectories, Clinical Characteristics and Treatment Options

    • Further Readings (Optional)

    • Test of Module 3

    • Evaluation Survey

INSTRUCTORS

Neurologist Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy

Dr Alberto Zambon

Dr Zambon has consistently focused his clinical and research efforts on pediatric neurology, mainly inherited neurodegenerative disorders. From 2018 to 2021, he attended the Dubowitz Neuromuscular Center in London as a research fellow in neuromuscular disorders. As a resident in Neurology, he actively participated in observational and interventional studies centred around Metachromatic Leukodystrophy (MLD). In collaboration with Dr Fumagalli, he authored a comprehensive analysis of the natural progression of a substantial cohort of MLD patients (Fumagalli et al., 2021). He directs his research towards exploring the significance of different biomarkers in patients with Metachromatic Leukodystrophy (MLD) who have undergone gene therapy.

Department of Neuropediatrics, Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Germany

Dr Lucia Laugwitz

Dr Lucia Laugwitz is working as a clinician scientist and child neurologist in training in the Department of Neuropediatrics and the Institute for Medical Genetics and Applied Genomics at the University of Tuebingen, Germany. Her research focuses on neurogenetic disorders with a special interest in leukodystrophies. In particular, she studies the molecular mechanism of lysosomal storage diseases using OMICS techniques. Dr Laugwitz is part of the MLD initiative network and is involved in international collaborations on newborn screening approaches for metachromatic leukodystrophy.

Consultant Paediatric Neurologist at Royal Manchester Children’s Hospital, United Kingdom

Dr Ram Dipak

Dr Dipak Ram is a Consultant Paediatric Neurologist at Royal Manchester Children’s Hospital. He is the neurology clinical lead for neurometabolic services in the North West of England. Dr Ram is part of the global MLD initiative network and is involved in active research collaboration internationally, including newborn screening for MLD. He is also the lead UK neurologist for NHS England's recently commissioned Libmeldy gene therapy service for MLD. Dr Ram is involved in various national and international trials for rare neurodegenerative disorders. He has publications in multiple peer-reviewed journals. As part of his interest in education, Dr Ram is the current National Training Advisor for Paediatric Neurology training in the UK.

COURSE EXAM

Complete the test in each module to get your certificate and credits

At the end of each module, you will be able to assess your level of understanding with a short test. This will help you to determine your own understanding of the course material and identify sections you may wish to revisit. With a minimum passing grade of 80%, as soon as you complete the test in each module you will receive the credit points and a certificate. Each test consists of 4 questions and each question is worth 1 point. The questions can have the following formats: True/false Multiple choice, Fill-the-gap, Drag-and-drop.

ABOUT

EXCELLENCE IN PEDIATRICS INSTITUTE

The Excellence in Pediatrics Institute (EIPI) is a not-for-profit association that provides continuing medical education to a global network of over 45,000 child health care professionals. EIPI's purpose is to act as a hub for sharing the latest developments and advice with all stakeholders involved in the care of children and adolescents. By leveraging the collective expertise and research of leading global pediatric healthcare professionals, EIPI aims to facilitate an open exchange of scientific knowledge and clinical best practices. EIPI strives to build a global community of child healthcare professionals that nurtures and supports their continuing education requirements and ever-changing needs.


THE SPOT THE EARLY SIGNS PROGRAM

The program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients. Following a Peer2Peer educational approach, the program targets to improve everyday practise and the way child healthcare professions advise and treat the children and families they support. Pediatricians and family doctors are likely to be the first healthcare professionals to observe symptoms, and it is important to help these front-line clinicians suspect, diagnose, and refer patients.


ACKNOWLEDGEMENTS

The Spot The Early Signs program is partially supported by unrestricted educational grants from Genzyme and Orchard.