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

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

https://www.news-medical.net/news/20211118/Study-involving-a-rat-model-offers-potential-treatment-for-Alexander-disease.aspx

 

 

Aicardi-Goutières syndrome

Improper Z-RNA recognition contributes to pathogenesis of Aicardi-Goutières syndrome

https://www.news-medical.net/news/20211021/Improper-Z-RNA-recognition-contributes-to-pathogenesis-of-Aicardi-Goutieres-syndrome.aspx

 

 

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

https://www.drugtargetreview.com/news/99511/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

https://www.prnewswire.com/news-releases/bridgebio-pharma-announces-dosing-of-first-patient-in-phase-12-trial-of-investigational-gene-therapy-for-canavan-disease-301414761.html

 

Passage Bio Announces Pipeline Expansion and Clinical Program Update

PassageBio PDF Document

 

 

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

Alex - The Leukodystrophy Charity