Overview of the current situation
An overview of the current situation of research
Last Updated on Thursday, 25 February 2010 20:17
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To date, the only existing treatments for Sanfilippo Disease are symptomatic and their efficiency varies according to the patient. |
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.
Conception of chemical chaperones
Last Updated on Thursday, 04 March 2010 11:13
Conception and evaluation of new chemical chaperones of the N-acetyglucosaminidase in the context of the development of a treatment for Sanfilippo Syndrome (MPS III B).
Gene Therapy
Last Updated on Thursday, 04 March 2010 11:03
(program organized by Sanfilippo alliance)
As we have mentioned, one of the ongoing research projects is the intracerebral gene therapy program.
Bone marrow transplant
Last Updated on Thursday, 04 March 2010 11:10 Monday, 01 February 2010 12:55
Following our call for bids at the beginning of 2009 with the aim of endorsing (a) promising research program(s) for children with Mucopolysaccharidosis (MPS), the foundation selected Dr. Adeline Lau’s molecular genetic pathology project (Australia). Dr. Lau has worked for several years with this disorder.
Pharmalogical approaches
Last Updated on Wednesday, 10 February 2010 15:31
Enzyme replacement therapies (ERT):
This program involves the injection of replacement enzymes : Recombinant enzymes are injected in order to replace the missing enzymes. In Europe, several diseases benefit from this type of therapy, notably Gaucher Disease Type I and Fabry Disease. Clinical trials are ongoing for Mucopolysaccharidosis Types I, II and IV and for infantile and juvenile forms of Glycogenosis Type II.
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