Discussion list Sanfilippo EURORDIS

Dear Families,
Dear Friends,

Sanfilippo. Six months ago, neither my husband nor I had ever heard this word. We were the parents of an adorable newborn daughter, and like other parents in that situation, we were just blessing life. Ornella. Our sweet and joyful baby girl. Confident in all and everything. A cortege of wonderful years was opening and at last we were to share this fabulous condition called parenthood, here to stand by our child for ages, high school and college, holidays, leisure, laughter, and travels. And to start with, tomorrow, on July 29, 2005, we were heading to the seaside for our very first family holidays.

Sanfilippo. Late July. The word falls like a dark curtain. It takes less than twenty minutes to Professor X to tell us about unknown realities, unbelievable horrors. We hear words like lysosomal storage disorder, mucopolysaccharidosis type III, Sanfilippo Syndrome, mental retardation, static tetraplegy, incurable disease, and eventually we catch that median lifespan for such a condition is 15 years as far as they know.
One patient with an MPS condition has MPS III, and though, there is no cure for her or him. It means that innocent young children, our children, are devoted to darkness.

Sanfilippo. This Thursday and those that followed are days of despair for us. Our world is fully devastated. There is nothing ahead of our child but a cortege of pains and disorders leading to a unacceptable termination. Unless… Unless we have enough faith and bravery to subdue our fear and to decide that a cure can be pioneered. The question is how?

Alliance Sanfilippo. We are convinced that getting organized and united with other families is the only way of acting efficiently.
We rapidly realised indeed that the professionals we are trusting in, though reliable, cannot cope with the huge amount of work that has to be done. We have to help them help us”. ( Getting organized … and also) “support and encourage” ( the researchers, … orphan disease). « Far from being silent and powerless witnesses of how science and medicine go, parents are in fact the most precious help to their child, far beyond the limit of their home. It is a certainty, and our study throughout Europe, the US and soon, Australia, meeting with the most eminent researchers and clinicians in the field of MPSIII confirms it: only a determined involvement of the Sanfilippo families will help accelerating the fight against the disease and accelerate the scientific and medical progress our children need (see Families). Getting organized to fight the disease means federating families, friends, and also the researchers, biotechs companies, physicians and clinicians, and each actor who has a role to play in the fight against this devastating genetic orphan disease.

An empowered strategy for Alliance Sanfilippo. It is now time to organise the framework of our mission. Our action needs a combination of perfectly well informed families, identification and support of high potential research with a clinical project, fundraising, but also a perfect understanding of the regulation in France and in Europe related to clinical trials and orphan drugs, and advocacy activities. We also have the intimate feeling that we have a special role to play with biotech and pharma companies, which are crucial to our cause, with an ultimate goal of clinical trials and medicine. Shire Human Genetics, with intellectual property rights on Sulfamidase, the enzyme missing in some of our children, is a perfect example.

Actelion, the company producing Zavesca ®, a medicine used in gangliosidoses and that many professionals would like to assay in the MPS III condition (where gangliosides also accumulate in excess) thanks to a clinical trial, is another example. We do have to meet these companies and their leaders, as we did in February when we met with Shire Human Genetics and other companies in the USA. To make one’s way in this complex environment, we need an organisation with multiple strengths: reactivity, internationalism, MPS III focus, capacity to make the vital link between various and very different actors disseminated throughout the world, each of them having indispensable contributions to deliver.Without this worldwide scientific based approach, finding a cure for our children will take much longer. That also is a reality

Clinical trials today in the rare disease world imply a strong commitment of patients’ organisations and task force dedicated to the disease or even very similar diseases. Such an organisation is critical for our families and this is why we created Alliance Sanfilippo.

“A White Paper Project for Alliance Sanfilippo”. After a first round of interviews and meetings with key actors, it rapidly appeared that knowledge and information related to Sanfilippo Syndrome needed to be deepened, organized differently and provided to families known to be in great demand. All of our families need an in depth, comprehensive and updated vision of research projects that are in progress throughout the world and of therapeutic approaches they are referring to. Such a platform does not exist for the Sanfilippo community. That is why we decided to create it. That is how we came to create the White Paper Project for Alliance Sanfilippo, a France-based organisation with a European scope. Enzyme Replacement Therapy, small molecules, gene therapy, substrate deprivation… Each approach is examined, with its scientific and medical uncertainties but also the reasons why it should be considered as an opportunity.

“The sponsors and friends of Alliance Sanfilippo”. Each category of actors (researchers, companies, clinicians, organisations, regulators…) might potentially be considered as being a must in our knowledge sharing network. Some of them have already played a special role, supporting us from the very beginning: the French Ministry of Health; Alliance Maladies Rares; Orphanet; Eurordis, and the Rare Diseases Plat-form from boulevard Didot in Paris; and other organisations overseas dealing with lysosomal and MPS disorders.

“The website of Alliance Sanfilippo”. Today, we are announcing the opening of our website, your website. We are eager to get to know you. As other parents, we also have the duty to protect and grow our children, as far of pain as can be. We have a duty to commit ourselves to do any possible effort to accelerate the way to clinical trials and medication. We have a duty to believe that we can make the difference.

We are proudly inviting you in our community and wish you as numerous as possible. Willing and determined.

With our warmest regards,

Karen & Gad AIACH, for Ornella

What is MPS III
Sanfilippo Syndrome?
Therapeutic Approaches
Personal Stories

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