Discussion list Sanfilippo EURORDIS

Warmest thanks to the
families who have been
helping finding a cure for
our children for many years :







Alliance Sanfilippo is an organisation founded by parents having children with Sanfilippo Syndrome. Even though we welcome families, friends and each person willing to sustain our actions against this devastating and terminal disease, Alliance Sanfilippo is a so called patient organisation before all, for MPS III / Mucopolysaccharidosis Type III / Sanfilippo Syndrome.

Nowadays, patients’ organisations such as ours have multiple responsibilities and strengths as well.

We at Alliance Sanfilippo have to commit ourselves to them if we really want our children to be helped.

Parents help finding a cure. Join us!
Parents help Sanfilippo Syndrome coming into the light
Parents help the scientific and medical communities accelerating their works

Parents help finding a cure. Join us!

Families are unique actors in the quest for a cure for Sanfilippo. For this reason, they are inevitably led to play a crucial role in this fight, in France, Europe and elsewhere. A cure is not only a question of drug, treatment, regulation and industry. It is also a family story.

Patients’ organisations are essential in the coordination and consolidation processes of other key actors. A powerful parent organisation means many more chances for our children to be saved. Other patients’ communities have shown the way and have been successful. We have to do the same and maybe more.

Whatever your background, we are eager to welcome you at Alliance Sanfilippo. To join us, click here.

Parents help Sanfilippo Syndrome coming into the light

If we consider the vast field of lysosomal storage disorders (more than 50 diseases) and that of mucopolysaccharidoses, MPS III sometimes appears as an orphan disease with the orphan diseases. There may have been more than one reason for this. Two of them are particularly important: first, everyone was rather doubtful for years that time might come for a cure in a CNS disease. Second, and most importantly, even if a number of devoted families have achieved tremendous actions, the voice of the MPS III / Sanfilippo community has not been loud enough to promote our children’s rights: the rights to be taken into consideration, to benefit from dedicated research projects, and to hope that curative treatments would be made available.

Today, our situation and environment undergo important changes in many aspects.

The research on MPS III does exist. Hope that such a CNS disease may find a cure exists too (see Therapeutic Approaches and Parents help the scientific and medical communities accelerating their works). It is now our role to sustain these developments in any possible way.

The environment also changes due to the fact that authorities and governments appear to get more and more active in designing appropriate legal and economic frameworks to help fighting against the rare diseases. France may be considered a pilot in this process. A structuring framework has been built: rare disease national plan, acknowledgement of reference centres for the diseases, grants and programmes dedicated to the rare diseases…

Various national and European organisations have made that and many other things happen. They realised it should never be taken for granted that people really feel concerned about rare diseases. They realised that much had to be done for the building up of a rare disease community, the promotion of research, the development of clinical trials, the support of the orphan drug economy, the access to treatment and care, and everything that may help coping with always complex and painful situations.

It is our role at Alliance Sanfilippo to continuously develop added value relationships with these organisations, contribute to the rare diseases community and derive benefit from their experience and supportive missions. As rare diseases are extremely numerous, it is also our role as we parents and families mobilise ourselves in order to have our children’s condition, Sanfilippo Syndrome, which somehow is our condition, recognised as a top priority by other families, by the clinicians, the physicians, the insurers, and each key actor enrolled in the conquest of a cure for Sanfilippo / MPS III.

Within the community and also larger audience, Alliance Sanfilippo has a purpose to have Sanfilippo Syndrome recognised as a priority in itself.

The more numerous we are, the louder the Sanfilippo voice will be.

We parents have to do our best efforts for Sanfilippo Syndrome being recognised and fought against in research, hospitals, industry and media.

Parents help the scientific and medical communities accelerating their works

The interest in Sanfilippo Syndrome as in other CNS diseases is increasing. Various and promising approaches, even if still in pre clinical stages at best, are to be considered: intra cerebral ERT, small molecules, gene therapy… Researchers and companies are now more confident that CNS affections may hopefully find a cure.

Families with children with Sanfilippo are the most concerned by the disease. Families also have the daily expertise of the condition. More than ever, they have to know that their power and ability to make the difference is enormous.

• An active parents’ organisation is a source of expertise. This expertise will be of the greatest importance when clinical trials protocols are designed with an aim at being as close to the patients’ needs as possible. It is also expertise that helps building evaluation tools to be used once a trial is in process. Families can help building the natural history of Sanfilippo Syndrome.

• A parents’ organisation committed to high standards of professionalism can be a true and acknowledged partner for researchers and companies, not only due to the families’ expertise but also to the fact that an organisation can help in many coordination processes. Communication, coordination and knowledge sharing between all the key actors should not be taken for granted indeed. We at Alliance Sanfilippo help optimising these numerous and often complex relationships.

• A well informed parents’ organisation reflecting the mature willingness of families has a greater influence on governmental bodies and agencies, when it comes to making important decisions.

You can help us being stronger. To join us, click here.

What is MPS III
Sanfilippo Syndrome?
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Alliance Sanfilippo - BP 88 - 92203 - Neuilly sur Seine Cedex - France - Tel. + 33 6 14 03 84 87