Author Archives: Ana Pena, PhD

Increased levels of certain gangliosides, or sugar-fat molecules, in the cerebrospinal fluid of people with Sanfilippo syndrome may be useful biomarkers of disease burden, a study suggests. While this measurement looks promising, investigators stress that more research is needed to confirm its clinical utility.  Monitoring gangliosides in patients…

Growth charts of Sanfilippo patients, created in a German study, can help doctors predict the developmental progress of children affected by this rare disease, and counsel parents on what to expect, the researchers said. The charts, which show growth patterns of people with Sanfilippo syndrome from birth to early…

A new mutation in the SGSH gene associated with Sanfilippo syndrome type A, also known as mucopolysaccharidosis IIIA (MPS IIIA), was discovered in an 8-year-old girl in China, a case study reports. The study underscores the importance of a timely diagnosis…

Caring for a child with mucopolysaccharoidosis (MPS), including Sanfilippo syndrome, can affect  all dimensions of a family’s life, yet parents gradually find ways to cope with the difficulties brought by the disease into their lives, an Irish study…

Adults with mucopolysaccharidosis (MPS), including MPS III, also known as Sanfilippo syndrome, have normal blood cholesterol levels and do not show a higher incidence of diabetes, despite their higher body mass index and increased cardiovascular risk, a study…

New formulations based on sugar molecules may improve the properties of candidate compounds for substrate reduction therapy to treat Sanfilippo syndrome, researchers have found. The study, “Cyclodextrin encapsulation of daidzein and genistein by grinding: implication on the glycosaminoglycan accumulation in mucopolysaccharidosis type II…

Researchers have discovered a new mutation in the NAGLU gene that is associated with Sanfilippo syndrome type B. They described the mutation in a case report titled, “A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B),” published…

The time it takes to diagnose mucopolysaccharidosis (MPS) type III, or Sanfilippo syndrome, haven’t improved in nearly three decades in the Netherlands and persists as a problem that must be resolved, researchers reported. Campaigns to raise awareness and reduce diagnostic delays have failed in the…

Substrate reduction therapy (SRT) shows potential in preclinical models and in clinical studies of patients with Sanfilippo syndrome. Treatment with genistein, currently being studied a Phase 3 trial, is the most promising candidate so far, according to a recent review. The review,…

Researchers have diagnosed an infant with two rare conditions, Sanfilippo syndrome type B and skeletal dysplasia, using a genetic technique that examines all protein-coding genes in the body’s cells. The finding underlines the value of using genome sequencing for precise diagnostics, particularly in rare and complex diseases.