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 in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases




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

PassageBio PDF Document



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

Alex - The Leukodystrophy Charity