Discussion list Sanfilippo EURORDIS

Activities of Alliance Sanfilippo
At Alliance Sanfilippo, being driven by our commitment to our children has a special meaning.
We have a dream: finding a cure. As soon as possible.
For this reason, we are committed to work intensively and combine reasearchers involvement, biotechs professionalism and families’ energy. We have also committed ourselves to create and maintain a daring culture to organise any partnership that may have positive results for our children. To start with, we have launched a set of complementary actions, with a purpose to held them to the highest of efficiency standards.
 Many families though, being overwhelmed by a full time MPS III involvement at home, cannot take part in certain types of actions. These families will want to strongly contribute to the action by supporting Alliance Sanfilippo and have us represent them in our activities. 

Projects in process
Core projects have been launched since the creation of the Alliance, on top of building up a community of MPSIII patient families.
• completing the MPSIII White Paper project
• building the Internet website
• building a strong relationship with the scientific and medical community
• building mature and durable relationships with specialised biotechs
Related expenses incurred by Alliance Sanfilippo since November 2005 amount to 30,000 euros  

The MPSIII White Paper
To build up an efficient strategy for our organisation, identify the highest potential teams and their needs to go further and faster, inform the families and unify our strengths, and eventually sustain our lobbying and fundraising campaigns, we have to rely on a comprehensive, reliable and updated information database related to Sanfilippo Syndrome, related research activities and therapeutic approaches to be considered.
That is the reason why we decided to manage the completion of a state-of-the-art report entirely dedicated to Sanfilippo Syndrome. A call for proposal took place in December 2005. A scientific researcher, PhD in neurobiology, specialised in neurodegenerative diseases, has been hired to conduct the project and perform this in-depth analysis, under the supervision by an acknowledged scientific team.
This unique international work is a comprehensive diagnostic related to the MPSIII disease, its physiopathological and biochemical mechanisms, its specificities, the scientific projects currently in progress that are valuable to our children or should be so (dietetics for instance), the therapeutic strategies considered to date - mainly enzyme replacement therapy and gene therapy -, and most importantly innovative therapies that could be applied to MPSIII in the future: substrate privation, use of chaperones, readthrough of stop codons.
Resources include both literature review and investigations and face to face interviews and meetings. The data available on general websites on rare diseases and specialized websites, on medical libraries such as Pubmed, hospitals, worldwide societies, forums, press articles, are carefully reviewed, analysed and challenged. On the other hand, different travels to the US, Australia, Europe and Israel and Australia are taking place in order to meet and also challenge key players - researchers and biotechs, national departments of health, regulatory agencies, patient organisations, …- , and to perform an investigational work on innovative therapies maybe to be considered as new therapeutic axes for MPSIII.
This prospective report will firstly be at the families’ service so that they can get perfectly informed. Evidently, it will also be a strong added value publication enabling us and our sponsors to sustain an efficient funding strategy, to dedicate grants to high potential teams, to launch new projects on important unanswered questions and ultimately to support clinical trials.
This MPSIII White Paper will be released in spring 2006 on demand. The report will be included for a discounted price in the subscription. Register here! Abstracts are already published online (see Therapeutic approaches).
Budget: 40,000 euros
Internet website of Alliance Sanfilippo
A second call for proposal has been organised in fall 2005 for the Internet website. The Internet website of Alliance Sanfilippo has a purpose to be a networkingplatform meant to inform, exchange, lobby on behalf of our children. A temporary website was first set online in early January 2006. Then, we moved to the website you are now visiting. This website is now yours, hopefully apt to respond and adapt to the needs of our community.
Within a very short period of time, our website will be connected to the MPSIII/Sanfilippo Patient Discussion List that we are currently organising with the European organisation Eurordis at www.eurordis.org.
Besides, you will promptly notice that we are linked to the websites of numerous referent organisations such as www.orpha.net, www.mpssociety.co.uk, www.mpssociety.org, etc.

We will also make our best efforts to set up online information or exchanges on daily life care practices that might have been identified in families throughout the world. This should be of the greatest interest for the families, at different stages of the disease. Alliance Sanfilippo certainly will want to work on these questions, but also encourage families to exchange with each other as much as possible.

On the other hand, we will encourage any action that may help the doctors help us. As an example, some psychiatric approaches have helped for years managing behavioural problems such as hyperactivity, aggressivity, insomnia… The psychiatrists certainly will not cure our children; but some of them due to their unique expertise with children with severe mental condition may hugely contribute to partially manage the behaviours of our children and improve their quality of life and that of their parents. This is an example of approach that Alliance Sanfilippo may focus on too in the near future

Scientific and medical community
To keep up with the scientific and medical paces, and to actively contribute to the developments of clinical trials and therapeutic solutions for our children, we are committed to develop and maintain an intimate relationship with them, based on mutual confidence.
This relationship was first initiated within the White Paper Project scope, as we have met with MPSIII prominent scientists and clinicians. We will continue to do on a regular basis.
Biotechs are key actors in our fight against the disease.  They are focused on the discovery, development and commercialization of the molecules or processes that will hopefully save our children. We as patient organisation and families do represent a key actor for them as well. We have to take any possible and reasonable action that will lead them to include MPSIII drug development in their R&D pipeline and enable them to advance faster from preclinical to clinical programs.

The more numerous you are joining Alliance Sanfilippo, the more persuasive our actions towards biotechs companies will be. Let us get unified to help our children.

Therapeutic Approaches

Alliance Sanfilippo - BP 88 - 92203 - Neuilly sur Seine Cedex - France - Tel. + 33 6 14 03 84 87