Research Summary: January 2022

Adrenoleukodystrophy (ALD)

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need

https://www.mdpi.com/2073-4409/10/12/3427/htm

Traditional Chinese medicine for gait disturbance in adrenoleukodystrophy: A case report and review of literature

https://pubmed.ncbi.nlm.nih.gov/34877308/

Vitamin D Status & Latitude Predict Brain Lesions in Adrenoleukodystrophy

https://www.medrxiv.org/content/10.1101/2021.12.26.21268422v1.full.pdf

Adrenoleukodystrophy National Registry Study

https://clinicaltrials.gov/ct2/show/NCT03789721

Alexander Disease

Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients

https://pubmed.ncbi.nlm.nih.gov/34865968/

Alexander disease: models, mechanisms, and medicine

https://pubmed.ncbi.nlm.nih.gov/34826654/

Type II Alexander disease with fragile X mental retardation 1 gene mutation

https://pubmed.ncbi.nlm.nih.gov/34800814/

Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease With Severe Reactive Gliosis

https://pubmed.ncbi.nlm.nih.gov/34808356/

Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment

https://pubmed.ncbi.nlm.nih.gov/34788075/

Teaching NeuroImage: Dorsal Medullary Lesions in Juvenile-Onset Alexander Disease

https://pubmed.ncbi.nlm.nih.gov/34158385/

CADASIL

A novel heterozygous HTRA1 mutation in an Asian family with CADASIL-like disease

https://pubmed.ncbi.nlm.nih.gov/34951056/

Canavan Disease

Passage Bio Announces Pipeline Expansion and Clinical Program Update

https://www.biospace.com/article/releases/passage-bio-announces-pipeline-expansion-and-clinical-program-update/

Myrtelle Announces Exclusive Worldwide Gene Therapy Licensing Agreement for Canavan Disease

https://www.businesswire.com/news/home/20211214005047/en/Myrtelle-Announces-Exclusive-Worldwide-Gene-Therapy-Licensing-Agreement-for-Canavan-Disease

Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt

https://pubmed.ncbi.nlm.nih.gov/34848132/

Cockayne Syndrome

Four-stranded DNA structure interactions play role in ageing syndrome

https://www.imperial.ac.uk/news/232394/long-range-four-stranded-dna-structures-found-play/

GM2 gangliosidosis and Giant Axonal Neuropathy (GAN)

Taysha Gene Therapies Announces January 2022 Virtual Investor Events to Review Preliminary Clinical Data for TSHA-101 in GM2 Gangliosidosis and High Dose Cohort and Long-Term Clinical Data for TSHA-120 in Giant Axonal Neuropathy

https://www.biospace.com/article/releases/taysha-gene-therapies-announces-january-2022-virtual-investor-events-to-review-preliminary-clinical-data-for-tsha-101-in-gm2-gangliosidosis-and-high-dose-cohort-and-long-term-clinical-data-for-tsha-120-in-giant-axonal-neuropathy/

Krabbe Disease

Gain Therapeutics Progresses Krabbe Disease Program and Provides Scientific Update

https://www.globenewswire.com/news-release/2021/12/07/2347352/0/en/Gain-Therapeutics-Progresses-Krabbe-Disease-Program-and-Provides-Scientific-Update.html

Leigh Syndrome

Diagnosing mitochondrial conditions: a WGS breakthrough

https://www.genomicseducation.hee.nhs.uk/blog/diagnosing-mitochondrial-conditions-a-wgs-breakthrough/

MLD

A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy

https://pubmed.ncbi.nlm.nih.gov/34882002/