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Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.
Open accessAbstract
Leukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population. We performed a comprehensive literature review of all gene therapy clinical trials listed in www.clinicaltrials.gov through August 2024, and the relevant preclinical studies that enabled clinical translation. Of the approximately 50 leukodystrophies described to date, only eight have existing gene therapy clinical trials: metachromatic leukodystrophy, X-linked adrenoleukodystrophy, globoid cell leukodystrophy, Canavan disease, giant axonal neuropathy, GM2 gangliosidoses, Alexander disease and Pelizaeus-Merzbacher disease. What led to the emergence of gene therapy trials for these specific disorders? What preclinical data or disease context was enabling? For each of these eight disorders, we first describe its pathophysiology and clinical presentation. We discuss the impact of gene therapy delivery route, targeted cell type, delivery modality, dosage, and timing on therapeutic efficacy. We note that use of allogeneic hematopoietic stem cell transplantation in some leukodystrophies allowed for an accelerated path to clinic even in the absence of available animal models. In other leukodystrophies, small and large animal model studies enabled clinical translation of experimental gene therapies. Human clinical trials for the leukodystrophies include ex vivo lentiviral gene delivery, in vivo AAV-mediated gene delivery, and intrathecal antisense oligonucleotide approaches. We outline adverse events associated with each modality focusing specifically on genotoxicity and immunotoxicity. We review monitoring and management of events related to insertional mutagenesis and immune responses. The data presented in this review show that gene therapy, while promising, requires systematic monitoring to account for the precarious disease biology and the adverse events associated with new technology.
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![Fig. 1 A classification system for leukodystrophies based on cellular mechanisms and pathophysiology, adapted from van der Knaap and Bugiani [2]. This is not a comprehensive list of the leukodystrophies.](/paper-figures/1f320c200b634403a9b63d7875d0f5f7/gene-therapy-for-the-leukodystrophies-from-preclinical-animal-studies-to-figure-1.jpg)
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“Although its relevance to ACBD5 deficiency remains to be established, current advances in the treatment options for leukodystrophies may also benefit the treatment of ACBD5 patients (Metovic et al., 2024; Wolf et al., 2025).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Metovic et al., 2024
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Metadata
- Authors
- Metovic, J., Li, Y., Gong, Y., & Eichler, F.
- Affiliations
- Harvard University (US)
- Corresponding author
- Eichler, Florian
- Venue
- Neurotherapeutics
- Publisher
- Elsevier BV
- Published
- 2024-07
- Volume
- 21
- Issue
- 4
- Pages
- e00443
- ISSN
- 1878-7479 (ISSN-L)
- PMC
- PMC11418141
- OpenAlex
- W4402509692
- Cited by
- 16
- References
- 237
- Citations by year
- 2026: 7 · 2025: 8 · 2024: 1
- FWCI
- 1.10
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Neurotherapeutics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS082331, R01NS072446, U54NS115052)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Keywords
- leukodystrophy, gene therapy, clinical trials, animal models, metachromatic leukodystrophy, X-linked adrenoleukodystrophy, Krabbe disease, Canavan disease, giant axonal neuropathy, GM2 gangliosidoses, Alexander disease, Pelizaeus-Merzbacher disease, lentiviral gene delivery, AAV gene delivery, antisense oligonucleotides, hematopoietic stem cell transplantation, insertional mutagenesis, genotoxicity, immunotoxicity, white matter disease
- MeSH terms
- Animals, Clinical Trials as Topic, Disease Models, Animal, Humans, Genetic Therapy
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