Latest News

Krabbe Disease https://alextlc.org/news/forge-biologics-krabbe-disease-clinical-programme-discontinued/

Adrenoleukodystrophy (ALD) A Clinical Study to Assess the Efficacy and Safety of Leriglitazone in Adult Male Subjects With Cerebral Adrenoleukodystrophy (CALYX) https://clinicaltrials.gov/study/NCT05819866

Metachromatic Leukodystrophy (MLD) https://ir.orchard-tx.com/news-releases/news-release-details/orchard-therapeutics-appoints-robin-kenselaar-chief-commercial First U.S. patients being treated with Lenmeldy in a commercial setting. Reimbursement agreement for Libmeldy reached with Spanish National Health System enabling access to all eligible patients in the country. Application to include MLD in its national newborn screening program submitted by patient advocates in Germany.

Metachromatic Leukodystrophy (MLD) https://ir.orchard-tx.com/news-releases/news-release-details/orchard-therapeutics-announces-multiple-data-presentations-and-0 Orchard Therapeutics to receive WORLD Symposium New Treatment Award for Lenmeldy.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy https://investors.vigilneuro.com/news-releases/news-release-details/vigil-neuroscience-highlights-2024-corporate-achievements-and Final analysis from the IGNITE Phase 2 clinical trial is planned for the second quarter of 2025. The Company will pursue an accelerated approval pathway for iluzanebart in ALSP and expects to share an update on its progress when the final analysis is reported.

Sjögren‐Larsson syndrome https://pmc.ncbi.nlm.nih.gov/articles/PMC11608845 Sjögren-Larsson syndrome (SLS) is a rare neurological disease characterised by hypomyelination and lipid accumulation. SLS is caused by the loss-of-function of the ALDH3A2 gene that encodes the FALDH enzyme involved in lipid metabolism. In this study, researchers used special stem cells (induced pluripotent stem cells or iPSCs) from SLS patients to investigate SLS pathophysiology. […]

Pelizaeus-Merzbacher disease (PMD) https://www.nature.com/articles/s41439-024-00306-8 Pelizaeus-Merzbacher disease (PMD) is a rare genetic disorder and a form of X-linked leukodystrophy that affects the nervous system, leading to problems with movement, muscle control, and vision. It is caused by mutations in the PLP1 gene, which plays a role in producing myelin, a substance that helps nerve cells communicate. PMD […]

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy https://www.nature.com/articles/s41598-024-84665-w Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare white matter disease leading to progressive neurological decline. Although the CSF1R gene is the primary causative gene for ALSP, it is unclear how many individuals clinically suspected to have ALSP present mutations in the CSF1R gene. This retrospective […]

Adrenomyeloneuropathy (AMN) https://pmc.ncbi.nlm.nih.gov/articles/PMC11706703/#jimd12845 Adrenoleukodystrophy (ALD) is a genetic disorder that can affect the spinal cord, leading to mobility and sensory issues. This study followed 79 adult men with ALD over 7 years to understand how spinal cord disease progresses in this condition and is the longest follow up study in this cohort to date. ALD […]

Adrenoleukodystrophy (ALD) https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63995?af=R Newborn screening for adrenoleukodystrophy (ALD) has enabled early detection and intervention, improving outcomes for affected children. This study examined cases identified through newborn screening in Minnesota, highlighting key findings related to cerebral ALD, adrenal insufficiency (AI), genetic variations, and biochemical markers. Two children diagnosed through newborn screening developed cerebral ALD at ages 3.6 […]

Adrenoleukodystrophy (ALD) https://pmc.ncbi.nlm.nih.gov/articles/PMC11727801 X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that progressively affects the brain and nervous system by accumulating very long chain fatty acids (VLCFA). Early manifestations include visual impairments, and this study looked at how X-ALD affects the small blood vessels in the eyes by using a special imaging tool called optical coherence tomography […]

GM1 Gangliosidosis and GM2 Gangliosidosis https://www.azafaros.com/news/azafaros-granted-important-regulatory-designations-and-clearance-by-european-authorities-for-global-phase-3-studies-to-be-initiated-in-2025/l198c14 Azafaros’ lead drug Nizubaglustat has been granted orphan drug designation in both the United States and the European Union for the treatment of GM1 gangliosidosis. Clinical Trial Application (CTA) for global Phase 3 study investigating the drug’s efficacy and safety in GM1/GM2 gangliosidoses was approved by multiple European countries and is […]