Please be aware these summaries are produced voluntarily by Biomedical Science students and are their interpretations of the information and findings. This information is reviewed by our Research Analyst Kristina Backlund MMSc. The National Lottery Community Fund and Ionis Pharmaceuticals, Inc have contributed to the funding of the Research Analyst role.
Alex TLC assumes no responsibility or liability for any errors or omissions in the content of these summaries. The information contained in the research summaries is provided on an “as is” basis with no guarantees of completeness, accuracy, usefulness, or timeliness. If you are unsure of any of the details within the summaries, please refer to the actual articles or contact info@alextlc.org
We have developed a database of research summaries that include leukodystrophy articles, clinical trials and pharmaceutical press releases to allow our community to easily read about relevant recent research developments.
Please use the drop down boxes below to narrow your search. You can search for condition specific summaries or to view our monthly research summaries which are sent out via email to our community, please select ‘Monthly summary’.
L-2 Hydroxyglutaric Aciduria (L2HGA) https://www.mdpi.com/2073-4425/17/7/735 L-2-hydroxyglutaric aciduria (L2HGA) is a rare inherited neurometabolic disorder that primarily affects the brain. It is caused by changes in the L2HGDH gene, which provides instructions for an enzyme involved in breaking down L-2-hydroxyglutarate. When this enzyme is not working correctly, L-2-hydroxyglutaric acid accumulates in the body and can damage […]
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) https://www.nature.com/articles/s41467-026-75367-0 The brain’s blood vessels and immune cells play important roles in maintaining brain health, but their contribution to neurological disease is not fully understood. This study investigated how cells in the brain respond to three conditions associated with inflammation and vascular dysfunction (blood vessels […]
GM2 gangliosidosis and Krabbe disease https://investors.polaryx.com/pr/polaryx-therapeutics-advances-operational-readiness-for-soteria-phase-2-basket-trial Polaryx Therapeutics is finishing getting ready for the start of the SOTERIA Phase 2 basket trial which they aim to initiate in the fourth quarter of 2026. SOTERIA is a Phase 2, open-label, single arm trial where all participants receive the same drug. It is designed to evaluate the […]
Alexander disease (AxD) https://ir.ionis.com/news-releases/news-release-details/zanvastrotm-zilganersen-approved-fda-first-and-only-disease The U.S. Food and Drug Administration (FDA) has approved ZANVASTRO™ (zilganersen) for people living with Alexander diseasein the United States, making it the first approved treatment for this rare leukodystrophy. ZANVASTRO was safe and well tolerated in trials with statistically significant stabilisations of speed of walking and improved gross motor function […]
Adrenoleukodystrophy (ALD) https://www.minoryx.com/media/minoryx_and_neuraxpharm_complete_enrolment_in_leriglitazone_pivotal_phase_3_trial_(calyx)_in_adult_patients_with_cerebral_adrenoleukodystrophy_(cald) The last patient has been enrolled in the global Phase 3 clinical trial CALYX which is evaluating leriglitazone in adult male patients with cerebral adrenoleukodystrophy (cALD). CALYX is a global, double-blind, randomized placebo-controlled Phase 3 clinical trial in which neither participant nor researcher know who has received the real treatment or placebo. […]
Research summary of recent leukodystrophy research and clinical trials, includes article summaries and direct links to websites and articles. To access the summary: Research Summary – September 2026 Please be aware these summaries are produced voluntarily by Biomedical Science students and are their interpretations of the information and findings. This information is reviewed by our Research […]
Leigh Syndrome https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0332283 This study reports the results of a phase III clinical trial testing SPP‑004, a combination of 5‑aminolevulinic acid (5‑ALA) and sodium ferrous citrate, as a potential treatment for Leigh syndrome, a severe mitochondrial disorder that causes progressive neurological decline in children. Because no approved medication exists for Leigh syndrome, researchers evaluated whether […]
Leigh Syndrome https://www.nature.com/articles/s42255-026-01566-0 Mitochondria are often described as the “powerhouses” of cells because they produce energy needed for cells to function. A key part of this process is the electron transport chain, which contains five protein complexes. Complex 1 is the largest and is particularly important for energy production, therefore problems affecting Complex 1 can […]
Fucosidosis https://www.cureus.com/articles/497493#! Fucosidosis is an extremely rare inherited disorder caused by the lack of an enzyme called α‑L‑fucosidase, which leads to the buildup of certain sugars in the brain and other organs. This case report follows an 18‑year‑old girl over 15 years, showing how her brain scans changed as the disease progressed. Early MRI scans […]
Alexander disease (AxD) https://www.sciencedirect.com/science/article/pii/S1096719226004725 Alexander disease (AxD) is a rare leukodystrophy, where Type 1 AxD usually begins in infancy or early childhood and is caused by pathogenic variants, in the GFAP gene, which provides instructions for making glial fibrillary acidic protein (GFAP) in astrocytes. Pathogenic variants are changes in the DNA that have been confirmed […]
Adrenoleukodystrophy (ALD) https://pmc.ncbi.nlm.nih.gov/articles/PMC13234235 X-linked adrenoleukodystrophy (X-ALD) is a disorder caused by changes in the ABCD1 gene. These changes disrupt adrenoleukodystrophy protein (ALDP), a protein involved in transporting very long-chain fatty acids (VLCFAs) into peroxisomes, where they are normally broken down. As a result, VLCFAs build-up throughout the body including in lipids. However, serious effects of […]
GM2 gangliosidosis https://www.azafaros.com/news-media/azafaros-completes-enrollment-of-phase-3-navigate-study-evaluating-nizubaglustat-for-the-treatment-of-patients-with-gm1-gm2-gangliosidoses Azafaros’s Phase 3 NAVIGATE study for treatment of patients with GM1/GM2 Gangliosidosis and Niemann-Pick type C diseasehas completed enrolment of patients with GM1/GM2 Gangliosidosis. The Phase 3 GM1/GM2 study enrolled a minimum of 75 patients across 25 clinical sites in 13 countries. The study is evaluating oral administration of nizubaglustat compared to […]
