Research Summary: February 2022

Research summary of recent leukodystrophy research and clinical trials, includes titles and direct links to websites and articles.


AARS2-Related Leukodystrophy

AARS2-Related Leukodystrophy: a Case Report and Literature Review


AAV Vectors Gene Therapy 

AAV Vectors Advance the Frontiers of Gene Therapy


Adrenoleukodystrophy (ALD)

N-Acetylcysteine Reverses the Mitochondrial Dysfunction Induced by Very Long-Chain Fatty Acids in Murine Oligodendrocyte Model of Adrenoleukodystrophy

Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort

Isoprostanoid Plasma Levels Are Relevant to Cerebral Adrenoleukodystrophy Disease

Viking X-ALD Study Paused Over Conflicting Phase Interpretations

Poxel Announces PXL065 Granted FDA Fast Track Designation for X-linked Adrenoleukodystrophy



Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development


Adrenomyeloneuropathy (AMN)

FDA cleared the Investigational New Drug application for SBT101, SwanBio Therapeutic’s gene therapy candidate for AMN

FDA Grants Fast Track Designation to SBT101, the First Investigational AAV-Based Gene Therapy for Patients with Adrenomyeloneuropathy (AMN)

Alexander Disease

Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation


Nasu-Hakola Disease (NHD)

Functional characterization of hiPSCs-derived glial cells and neurons from patients harboring a TREM2 loss of function mutation


Canavan Disease (CD)

Myrtelle Announces Successful Completion of Initial Stage of Phase 1/2 Clinical Trial of Proprietary Gene Therapy for Canavan Disease and Expands Treatment to Younger Patients


GM1 gangliosidosis, Krabbe Disease & Metachromatic Leukodystrophy (MLD)

Passage Bio Announces 2022 Research and Clinical Development Goals to Advance Robust CNS Pipeline


GM2 gangliosidosis

Taysha Gene Therapies Announces Positive Initial Biomarker Data For TSHA-101, the First Bicistronic Gene Therapy in Clinical Development, Demonstrating Normalization of β-Hexosaminidase A Enzyme Activity in Patients With GM2 Gangliosidosis


Krabbe Disease

Dementia protein changes discovered in terminal childhood disease


Metachromatic Leukodystrophy (MLD)

Orchard Therapeutics Announces Publication in The Lancet of Long-term Clinical Outcomes with Libmeldy for the Treatment of Children with Early-onset MLD

Publication in the Lancet: Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

Orchard Therapeutics Announces Historic Agreement Making Libmeldy Available by NHS England for MLD Patients


Pelizaeus-Merzbacher Disease (PMD)

CWRU grants exclusive license to Ionis Pharmaceuticals to advance antisense therapy for Pelizaeus-Merzbacher disease


Alex - The Leukodystrophy Charity