An overview of the current situation of research

Last Updated on Tuesday, 30 October 2012 14:34

To date, the only existing treatments for Sanfilippo Disease are symptomatic and their efficiency varies according to the patient. Multidisciplinary approaches that have been set up in various hospitals aim at giving affected children the best possible care and thus improving their quality of life:

Such programs include tentative treatment of behavioural disorders, ENT examinations and orthopedic help. However, these approaches are still very ineffective, notably because children affected with Sanfilippo Syndrome are often resilient to treatment, particularly where hyperactivity is concerned.

The progression of knowledge in molecular biology and in physiopathology now makes it feasible to tackle the actual causes of the disease and no longer only its symptoms.

A better understanding of the various stages of the biochemical process of storage of heparan sulfate in the cells makes it possible to comprehend the different therapeutic approaches that can be explored.

Moreover, it appears that therapeutic strategies could become significantly different according to the patient, the evolution of his pathology and the type of genetic mutation that has been identified.

This is potentially true for strategies relative to MPSIII, which might vary for types A,B,C and according to the types of mutation.

It is therefore important to support all innovative approaches which might be made: gene therapy, cell therapy or pharmacological therapy.