Research Summary: December 2021
Research summary of recent leukodystrophy research and clinical trials, includes titles and direct links to websites and articles.
Adrenoleukodystrophy (ALD)
Atypical MRI Findings in Cerebral Adrenoleukodystrophy: A case Report
Variables Affecting Outcomes After Allogeneic Hematopoietic Stem Cell Transplant for Cerebral Adrenoleukodystrophy
Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy
Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis
Adrenomyeloneuropathy (AMN)
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression
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
CARASIL
Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy model
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
GM1 gangliosidosis
Clinical trial using gene therapies for neurodegenerative diseases reports positive interim data
