Research summary of recent leukodystrophy research and clinical trials, includes article summaries and direct links to websites and articles.
Adrenoleukodystrophy (ALD)
Atypical MRI Findings in Cerebral Adrenoleukodystrophy: A case Report
https://pubmed.ncbi.nlm.nih.gov/34744287/
Variables Affecting Outcomes After Allogeneic Hematopoietic Stem Cell Transplant for Cerebral Adrenoleukodystrophy
https://pubmed.ncbi.nlm.nih.gov/34781360/
Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy
https://onlinelibrary.wiley.com/doi/10.1002/jmd2.12259
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy
https://pubmed.ncbi.nlm.nih.gov/34826210/
Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis
https://casereports.bmj.com/content/14/11/e244757
Adrenomyeloneuropathy (AMN)
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression
https://onlinelibrary.wiley.com/doi/10.1002/jimd.12457
Alexander Disease
Study involving a rat model offers potential treatment for Alexander disease
Aicardi-Goutières syndrome
Improper Z-RNA recognition contributes to pathogenesis of Aicardi-Goutières syndrome
CADASIL
CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases
https://pubmed.ncbi.nlm.nih.gov/34761493/
CARASIL
Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy model
https://pubmed.ncbi.nlm.nih.gov/34779414/
Antihypertensive drugs could treat cerebral small vessel disease
Canavan Disease
BridgeBio Pharma Announces Dosing of First Patient in Phase 1/2 Trial of Investigational Gene Therapy for Canavan Disease
Passage Bio Announces Pipeline Expansion and Clinical Program Update
Cockayne Syndrome
Aldehyde-driven transcriptional stress triggers an anorexic DNA damage response
https://pubmed.ncbi.nlm.nih.gov/34819667/
GM1 gangliosidosis
Clinical trial using gene therapies for neurodegenerative diseases reports positive interim data
https://medicalxpress.com/news/2021-11-clinical-trial-gene-therapies-neurodegenerative.html