Sanfilippo syndrome

May 21, 2025

Lysosomal Storage Disorders, or LSDs, are rare genetic conditions that may not make headlines, but they affect thousands worldwide, often with life-changing consequences. LSDs happen when the body’s lysosomes, tiny cellular recycling centers, fail to break down waste materials due to missing or faulty enzymes. This...

Mar 19, 2025

Mucopolysaccharidosis (MPS) is a group of rare genetic disorders affecting roughly 1 in 25,000 births, yet its impact is profound. Caused by enzyme deficiencies, MPS leads to the buildup of complex sugars in cells, resulting in progressive damage to the heart, bones, brain, and other organs. Symptoms can vary widel...

Feb 25, 2025

FDA Approves CTEXLI, the First-Ever Treatment for Cerebrotendinous Xanthomatosis, a Rare Lipid Storage Disorder Mirum Pharmaceuticals, Inc. announced that the FDA has approved CTEXLI (chenodiol) tablets as the first and only treatment for cerebrotendinous xanthomatosis (CTX), a rare, progressive, and debilitatin...

Jan 23, 2024

Opdivo in Combination with CABOMETYX Demonstrates Long-Term Survival Benefits After Four Years of Follow-Up in the CheckMate -9ER Trial in First-Line Advanced Renal Cell Carcinoma Bristol Myers Squibb and Exelixis, Inc. have released the four-year follow-up findings from the CheckMate -9ER trial, which investiga...

Nov 04, 2019

Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disorder that affects the Central Nervous system. It is a result of a mutation in genes and can be of four types (A, B, C, and D). In all the four cases, the body fails to clear up the toxic sugars such as mucopolysacchar...