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Topic: Leukodystrophies

A special issue of Rare Disease and Orphan Drugs Journal

ISSN 2771-2893 (Online)

Submission deadline: 31 Dec 2023

Guest Editor(s)

  • Dr. Dominik Fröhlich
    Translational Neuroscience Facility and Department of Physiology, School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia.

    Website | E-mail

Special Issue Introduction

Leukodystrophies are a group of neurogenetic white matter disorders associated with an early onset, high mortality, and a lack of effective treatment options. Patients afflicted by these heritable white matter diseases suffer from motor impairments, spasticity, ataxia, seizures, delayed achievement of developmental milestones, and often premature death. Initially, the large and heterogenous group of leukodystrophies only comprised of disorders, which were primarily caused by myelin or oligodendrocyte defects. This definition has evolved over the years to now include all genetic disorders with selective involvement of the central nervous system white matter, irrespective of the white matter structure or cell-type concerned. General leukodystrophy diagnosis as well as differential diagnosis of a specific leukodystrophy subtype, involves brain and spinal cord Magnetic Resonance Imaging and specialised genetic tests such as whole exome or whole genome sequencing. To date, more than 30 different forms of leukodystrophy have been identified, with the most prevalent diseases being Adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe disease, Alexander disease, and Canavan disease. With the latest advances in genomic testing, it is likely that the list of leukodystrophies will keep expanding. While individual leukodystrophies are classified as rare diseases, epidemiological data for all leukodystrophies combined suggests a prevalence of one in 7,600 live births globally.

Currently available treatments are mainly targeted at symptom management and improving the quality of life for patients. Despite their devastating nature, curative therapies for this group of white matter disorders are still lacking but are urgently needed. It is imperative to develop new treatment strategies to halt disease progression and enable repair of already damaged brain tissue. Experimental therapies presently trialled in pre-clinical and clinical studies include gene therapy, enzyme-replacement therapy, targeted drug treatment, antisense nucleotides, and stem cell therapy. Despite yielding promising results thus far, more work is required to establish these therapies for clinical use.

This special research topic seeks to summarise recent advances in the field of leukodystrophy research covering basic pathophysiology studies, the generation of accurate cell and animal models enabling drug discovery programs, as well as the development of novel experimental therapies targeted at white matter disorders. All types of articles are welcome, from original research articles to review articles summarising the latest trends in the rapidly evolving field of leukodystrophy research.

Submission Deadline

31 Dec 2023

Submission Information

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Submission Deadline: 31 Dec 2023
Contacts: Dominik Fröhlich, Guest Editor,

Published Articles

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