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
https://pubmed.ncbi.nlm.nih.gov/35084689/
AAV Vectors Gene Therapy
AAV Vectors Advance the Frontiers of Gene Therapy
https://www.genengnews.com/topics/genome-editing/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
https://www.mdpi.com/2227-9059/9/12/1826/htm
Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort
https://link.springer.com/article/10.1007/s10072-021-05859-y
Isoprostanoid Plasma Levels Are Relevant to Cerebral Adrenoleukodystrophy Disease
https://www.mdpi.com/2075-1729/12/2/146/htm
Viking X-ALD Study Paused Over Conflicting Phase Interpretations
http://ir.vikingtherapeutics.com/2022-01-24-Viking-Therapeutics-Announces-Clinical-Hold-on-Phase-1b-Trial-of-VK0214-in-Patients-with-X-ALD
Poxel Announces PXL065 Granted FDA Fast Track Designation for X-linked Adrenoleukodystrophy
https://www.alextlc.org/poxel-ald-treatment-update/
ALSP
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development
https://doi.org/10.3389/fneur.2021.788168
Adrenomyeloneuropathy (AMN)
FDA cleared the Investigational New Drug application for SBT101, SwanBio Therapeutic’s gene therapy candidate for AMN
https://www.alextlc.org/swanbio-therapeutics-gene-therapy-for-amn/
FDA Grants Fast Track Designation to SBT101, the First Investigational AAV-Based Gene Therapy for Patients with Adrenomyeloneuropathy (AMN)
https://www.alextlc.org/swanbio-therapeutics-amn-gene-therapy-update/
Alexander Disease
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease
https://pubmed.ncbi.nlm.nih.gov/34950024/
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
https://pubmed.ncbi.nlm.nih.gov/34950187/
Nasu-Hakola Disease (NHD)
Functional characterization of hiPSCs-derived glial cells and neurons from patients harboring a TREM2 loss of function mutation
https://alz-journals.onlinelibrary.wiley.com/doi/10.1002/alz.058712
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
https://www.myrtellegtx.com/news/myrtelle-announces-successful-completion-of-initial-stage-of-phase-1%2F2-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
https://www.passagebio.com/investors-and-news/press-releases-and-statements/news-details/2022/Passage-Bio-Announces-2022-Research-and-Clinical-Development-Goals-to-Advance-Robust-CNS-Pipeline/default.aspx
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
https://ir.tayshagtx.com/news-releases/news-release-details/taysha-gene-therapies-announces-positive-initial-biomarker-data
Krabbe Disease
Dementia protein changes discovered in terminal childhood disease
https://www.alzheimersresearchuk.org/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
https://ir.orchard-tx.com/news-releases/news-release-details/orchard-therapeutics-announces-publication-lancet-long-term
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
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)02017-1/fulltext
Orchard Therapeutics Announces Historic Agreement Making Libmeldy Available by NHS England for MLD Patients
https://www.alextlc.org/mld-gene-therapy-approved/
Pelizaeus-Merzbacher Disease (PMD)
CWRU grants exclusive license to Ionis Pharmaceuticals to advance antisense therapy for Pelizaeus-Merzbacher disease
https://www.newswise.com/articles/cwru-grants-exclusive-license-to-ionis-pharmaceuticals-to-advance-antisense-therapy-for-pelizaeus-merzbacher-disease
