News

Add Your ‘Hands of Hope’ on World Sanfilippo Awareness Day

From joining the “Hands of Hope” challenge to adding a Facebook profile frame, supporters globally are poised to mark World Sanfilippo Awareness Day, observed each Nov. 16 to bring attention to the genetic disorder thought to affect one in 70,000 individuals. The awareness campaign targets the general public…

Parents, Caregivers Vital in Sanfilippo Disease Research: Study

According to parents of children with Sanfilippo syndrome, developmental delays, hyperactivity, sleep disturbances, hearing loss, and recurrent infections were the most common features of the condition. This study adds to the natural history of Sanfilippo syndrome and underscores the vital role parents and caregivers play in disease research, the…

Official to Propose European Action Plan for Rare Diseases

Later this month, the Czech government will host a conference where Deputy Minister of Health Jakub Dvořáček will present a call to action and proposal for a European Action Plan for Rare Diseases — a systemic framework for the  European Union to better care for people with rare diseases like…

Sanfilippo Growth Impairments Milder Than Other MPS Types

Children with Sanfilippo syndrome have impaired growth compared with the general population, but these deviations are milder than those observed with other types of mucopolysaccharidoses (MPS), a study found. The study, which spanned more than 30 years, found that children with MPS were significantly longer than healthy children at…

Added Mutation in Sanfilippo Linked to Worse Symptoms for 1 Sibling

The case of two siblings with Sanfilippo syndrome type B who had the same disease-causing mutations but showed dramatically different developmental trajectories was described in a recent report. Genetic analyses revealed an additional gene mutation in the younger child — one causing another rare disease characterized by developmental delays…