MPS Awareness Day 2026
- heathermason
- 9 hours ago
- 2 min read
Today, the 15th of May, is MPS (Mucopolysaccharidoses) Awareness Day.
MPS are a group of rare, inherited metabolic disorders caused by the body's inability to produce sufficient enzymes needed to break down complex sugar molecules called glycosaminoglycans (GAGs). When these molecules accumulate in cells and tissues, they cause progressive, often severe damage throughout the body.
The main types of MPS disorders are; MPS I (Hurler Syndrome), MPS II (Hunter Syndrome), MPS III (Sanfilippo Syndrome), MPS IV (Morquio Syndrome), MPS VI (Maroteaux-Lamy Syndrome), and MPS VII (Sly Syndrome).
Though distinct, they share many features, including effects on the skeleton, joints, heart, liver, spleen, and in several types, the brain and nervous system.
Symptoms often not present at birth, but emerge gradually over months or years. They can include coarsened facial features, skeletal abnormalities, reduced mobility, hearing and vision loss, recurrent respiratory infections, and in some types, cognitive decline.
MPS affects people of all ethnicities and genders. Collectively, these conditions affect roughly 1 in 25,000 births worldwide, making each individual type extremely rare.
While there is currently no cure, treatments such as enzyme replacement therapy (ERT) and haematopoietic stem cell transplantation (HSCT) can slow progression and significantly improve quality of life, particularly when started early.
Early diagnosis is everything, and therefore should be added to all newborn screening panels. Awareness saves lives. 💛
Below is a video from a Sanfilippo support group in the USA (some of you may remember the beautiful Sadie Rae, whose family kindly shared their story with me for my rare disease awareness campaign in 2024). This group are currently lobbying the FDA to fast track a gene therapy called UX111 which has been shown to slow or halt the progression of Sanfilippo.
The FDA has denied this application twice for manufacturing issues, not safety or efficacy.
In their words "Meanwhile, the FDA has approved weight-loss drugs in just 50 days. They fast-tracked psychedelics because Joe Rogan made one call to the President".
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