Latest News

GM2 gangliosidosis https://www.andelynbio.com/news-media/andelyn-biosciences-to-develop-and-manufacture-gene-therapy-aav9-gm2-for-queens-university-to-treat-gm2-gangliosidoses

Canavan disease https://myrtellegtx.com/gene-therapy-disease-burden-impact

Mucolipidosis Type IV https://www.cureus.com/articles/464301#! This case report describes a nine‑year‑old boy whose severe corneal clouding (loss of transparency in cornea) and visual loss since birth led to the diagnosis of mucolipidosis type IV (MLIV), a very rare inherited lysosomal storage disorder. Although MLIV usually appears in infants with developmental delay and progressive neurological problems, this […]

Megalencephalic Leukodystrophy with subcortical cysts (MLC) https://www.cureus.com/articles/494833#!/# This case report describes a rare brain disorder called Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), also known as Van der Knaap disease. It usually begins in infancy with an enlarged head and slow motor development. However, this case highlights an unusual presentation in a 12‑year‑old boy who developed […]

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 […]