Have you ever heard of Sanfilippo Syndrome? This neurological disease of genetic origin affects between 0.6 and 1.2 babies out of 100,000 in Europe. The symptoms – which usually appear before the age of 3 – result from the accumulation of a molecule (heparan sulphate) in the tissues of the organization.
In sick children, we can notably observe a delay in cognitive development, hyperactivity, autistic behavior and sleep disorders. Later, the neurological impairment leads to intellectual disability and a reduction in motor skills – the loss of autonomy occurs around the age of 10.
AT?? Currently, there is no treatment for Sanfilippo disease : Symptom management is also very difficult. The death is unfortunately premature.
Emma and Hugo, affected by Sanfilippo disease
Emma (2 years old) and Hugo (4 years old) suffer from Sanfilippo syndrome. In the spring of 2018, Alicia and Julien, the parents of the two toddlers, launched an appeal for donations on the internet. The goal: to collect 4 million euros so that the two children can benefit from a clinical trial by gene therapy thanks to a single intravenous injection.
A colossal envelope, unfortunately impossible to reach: the couple who lives in the Île-de-France region (95) only manages to collect 1.5 million euros. “We had no choice: the disease was gaining ground on Hugo, already almost too big to be treated. So we turned to another medical team, whose protocol was cheaper“explains the father.
Today, Emma and Hugo are taken care of… and, thanks to the generosity of Internet users, a third child affected by the pathology has been integrated into the trial. clinical. We cross fingers.
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