Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of Adult-Onset Alexander Disease
The article “Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of…
Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review
The article “Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and…
A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report
The article “A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous…
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome
The study “Accumulation of Ether Phospholipids in Induced Pluripotent Stem Cells and Oligodendrocyte-Lineage Cells Established…
Minoxry Therapeutics: Leriglitazone has met the primary endpoint in NEXUS, the pivotal trial for pediatric patients with cALD
Press Release Summary (December 11, 2024): Minoryx Therapeutics, a late-stage biotech company, and Neuraxpharm Group,…
Viking Therapeutics Announces Results from Phase 1b Clinical Trial of VK0214 in Patients with X-ALD
BridgeBio Shares Positive Data from Canavan Disease Study
BridgeBio Shares Positive Data from High Dose Cohort of Phase 1/2 CANaspire Study of Gene…
PMD Clinical Study
Orbit Study: A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356…
Minoxry Therapeutics: Leriglitazone has met the primary endpoint in NEXUS, the pivotal trial for pediatric patients with cALD
Press Release Summary (December 11, 2024): Minoryx Therapeutics, a late-stage biotech company, and Neuraxpharm Group,…
Fall 2024 Newsletter
The Fall 2024 ULF Newsletter has been posted! Find it here
Aspa Therapeutics: A Natural History Study of Patients With Canavan Disease
Aspa Therapeutics: A Natural History Study of Patients With Canavan Disease (CANinform Study) [https://clinicaltrials.gov/study/NCT04126005] CANinform is a natural history…
BridgeBio press release about the RMAT designation for the Aspa clinical trial in Canavan Disease
09.10.2024 at 4:45 PM EDT – Receipt of RMAT Designation is based on preliminary clinical…