A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report

Research / December 12, 2024

The article “A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report” describes a rare genetic mutation linked to metachromatic leukodystrophy (MLD), a devastating lysosomal storage disorder. Here’s an explanation of the study and its significance: What is Metachromatic Leukodystrophy (MLD)? MLD is a genetic …

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Living with ALD: A Journey of Strength and Community

Share Your Story / November 27, 2024

My name is Margaret Halter. My husband, John, was diagnosed with Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN) in 1989 at the age of 31. We’ve been married for 41 years, live on a beautiful farm in Ohio,  and have two children, a daughter and a son, both with families of their own. Our daughter is a carrier with no …

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Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome

Research / December 12, 2024

The study “Accumulation of Ether Phospholipids in Induced Pluripotent Stem Cells and Oligodendrocyte-Lineage Cells Established from Patients with Sjögren-Larsson Syndrome” investigates a rare genetic disorder called Sjögren-Larsson Syndrome (SLS) using advanced stem cell techniques. Here’s a simpler explanation of what the researchers did and found: What is Sjögren-Larsson Syndrome? SLS is a condition caused by …

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Minoxry Therapeutics: Leriglitazone has met the primary endpoint in NEXUS, the pivotal trial for pediatric patients with cALD

Clinical Trials, News / December 13, 2024

Press Release Summary (December 11, 2024): Minoryx Therapeutics, a late-stage biotech company, and Neuraxpharm Group, a European specialty pharmaceutical firm, announced positive outcomes from the NEXUS trial, a pivotal 96-week study evaluating leriglitazone in pediatric patients with cerebral Adrenoleukodystrophy (cALD). The trial demonstrated a significant 35% arrest of disease progression in treated patients, compared to …

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Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease

Research / December 12, 2024

The article, “Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease”, explores innovative in vitro methods to study Krabbe disease (KD), a severe lysosomal storage disorder. Using induced pluripotent stem cells (iPSCs), the research develops human-based models that replicate key aspects of the disease, providing insights into its mechanisms and potential therapeutic approaches. …

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A Special Year-End Message from Dr. Mousumi Bose

Share Your Story / December 9, 2024

My name is Mousumi Bose, and I am the mother of Ilan Betzer. Ilan was born in August 2010 and was soon diagnosed with Zellweger spectrum disorder, a rare peroxisomal disorder that is categorized as a leukodystrophy. As his disease progressed, our journey with Ilan was marked by complex challenges. Ilan passed away just after his first …

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Help Us Bring Hope to Families Like Isabella’s This Holiday Season

Share Your Story / November 27, 2024

I’m the aunt of my beautiful niece, Isabella, who was diagnosed with Vanishing White Matter (VWM) Disease at age four in 2009. Isabella’s joyful spirit and incredible courage inspire me to be the best I can be. She faces the challenges of this devastating condition with a smile that never fades, and she brings happiness …

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Beverly’s Journey of Hope & Giving Back

Share Your Story / November 27, 2024

“I was so fortunate to have been able to attend the ULF conference without worrying about finances, and other families should not have to be concerned about costs to be there.” Beverly Jones Devoted mother & longtime ULF supporter Beverly Jones, a devoted mother, first connected with the United Leukodystrophy Foundation (ULF) after her young …

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Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy

Research / November 25, 2024

The study publicshed in the New England Journal of Medicine titled “Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy” investigates the long-term safety of the gene therapy elivaldogene autotemcel (eli-cel) in patients with cerebral adrenoleukodystrophy (CALD). The therapy modifies patients’ own blood-forming stem cells to include a functional gene to manage CALD. However, 7 of …

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Fall 2024 Newsletter

News / November 25, 2024

The Fall 2024 ULF Newsletter has been posted! Find it here