Metachromatic Leukodystrophy (MLD), the most common form of Leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (Leukoencephalopathy).
 It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen).
 The fatty protective covering on the nerve fibers (myelin) is lost from areas of the central nervous system (CNS) due to the buildup of sulfatide.
 Symptoms of Metachromatic Leukodystrophy may include convulsions, seizures, personality changes, spasticity, progressive dementia, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.
 Metachromatic Leukodystrophy is inherited as an autosomal recessive trait. There are three types of the disease that have similar symptoms.
 However, they are distinguished by the age of onset: infantile, juvenile, and adult forms of Metachromatic Leukodystrophy.
 MLD is a rare disease, affecting about one in 60,000 people.

Three Types of MLD:
Late Infantile – Onset of symptoms between 6 mo. and 2 yrs.
Juvenile – Onset of symptoms after age four until sixteen.
Adult – Onset of symptoms late teens.

DR. TONY RUPAR

• B.Sc., Ph.D., Western Ontario, Fellow of the Canadian College of Medical Genetics
• Associate Professor, Biochemistry and Paediatrics
• Chairman, Division of Clinical Biochemistry
• Chair, Human Molecular Genetics Program, Child Health Research Institute
• Director, Biochemical Genetics Laboratory, CPRI
• Director, Bethanys Hope Leukodystrophy Research Laboratory

– What is MLD?

– Dr. Rupar’s Info Sheet

DR. STEPHANIE NEWMAN
Stephanie Newman has recently completed her PhD from the University of Oxford, UK. The University of Oxford is rated as the best University in the world and has a long term reputation of excellence. From a world-renowned research institution Dr. Newman has established a specific research focus in inborn errors of metabolism with a particular focus on rare lysosomal storage disorder Niemann Pick Disease Type C (NPC).

Dr. Newman has uncovered a specific innate immune abnormality in NPC where results determined NPC macrophage cells display reduced phagocytosis of several targets. Phagocytosis is a physiologically ancient process by which cell engulf and degrade invading particles and microbes. Defective phagocytosis can initiate abnormal immunological and inflammatory responses that we suggest contribute to NPC phenotype. Abnormal phagocytosis also impacts the ability to fight off infection, therefore showing obvious clinical interest in NPC.

Recently Dr. Newman has returned to London, Ontario to begin her Post-Doctoral training under the direction of Dr. Tony Rupar, where she will assist in moving the MLD clinical trial forward, bringing new ideas for MLD therapies. Dr. Newman is an enthusiastic and optimistic member of Team 2018. She will bring her wide range of skills, international collaborators, and a personal, well established background in rare disease to the Bethanys Hope Leukodystrophy Research Laboratory, where she will assist in associated MLD clinical trial research in London, Ontario. Her career goals are to remain in the field of rare disease research, continuing to focus on discovery of new therapeutics.

– Research Summary