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 and peripheral nervous systems, ultimately affecting intellectual and motor function. Early-onset clinical manifestations are often overlooked or confused with other conditions, confusing non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment significantly affect the conditions’ development and the patient’s health and quality of life. This delay in referral and treatment must be overcome.

Language: English 

Duration: 30 minutes, followed by questions from the audience

Presenter: Alessandra Biffi, Director of the Gene Therapy Program, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Harvard Medical School, United States


This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Neurologists and other physicians and healthcare professionals with an interest in Metabolic Diseases and Genetics. 


  •  Introduction to Microglia - a specialised population of macrophages-like cells in the CNS 

  •  Reviewing microglia’s involvement in promoting or limiting the pathogenesis of diseases 

  •  Exploring the potential for the management and treatment of neurometabolic disorders 


Watch the video. It's free.

The Spot the Early Signs 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.