Chase Community Giving : Vote for Jonahs Just Begun foundation and help it to support MPS IIIC research programs.

Chase Community Giving is a program where you, the fans, help decide what matters—and help choose charities to receive grants from Chase. Chase is giving away 5 million dollars to be shared between 196 deserving charities including Jonahs Just Begun et Sanfilippo Research Foundation.

Voting is from September 6th-19th. You only vote once and for two charities, so vote for them on Chase Community Giving website.

For the first time, a gene therapy drug to be approved in Europe!

This therapy aims to treat children with a rare genetic disease called lipoprotein lipase deficiency (LPL). The enzyme LPL contributes to the triglycerides degradation; LPL deficit leads to massive hypertriglyceridemia causing abdominal pain in connection with acute pancreatitis.

The gene therapy treatment named Glybera (alipogene tiparvovec) uses an adeno-associated virus vector as the delivery vehicle to add working copies of the LPL gene into muscle cells to enable production of the enzyme in the cells.

After a long and complex evaluation process, on July 20, European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) has recommended the authorisation of Glybera (alipogene tiparvovec) for marketing in the European Union.

This is very encouraging for the whole community involved in gene therapy programs, including the Alliance Sanfilippo, because the last key step to obtain a marketing authorization is about to be reached in Europe.

See the press release of the European Medicines Agency

"The Sanfilippo Children" A documentary film by Marie-Fleur Stalder

In the course of 2011, Mrs. Marie-Fleur Stalder directed a documentary on children suffering from the Sanfilippo disease supported by The Sanfilippo Foundation Switzerland and the Loterie Romande.
This film sought to show families whose children are affected by MPS IIIA, B and C. Above and beyond the laughs of the children and the effervescence of summer days when the film was mostly shot, we get a better idea of the reality of families living with children suffering from a rare, progressive and, so far, incurable disease. We discover the difficulties of daily life, of sometimes, late diagnosis, the modifications to this children’s education and their changed relations with siblings.
We also discover the love that unites and keeps these families together, and their inspiring struggles. We see grief and despair at the lack of treatment.

Professor Marc Tardieu, head in the ongoing gene therapy trial of type-A Sanfilippo disease and [Karen Aiach, founder of Alliance Sanfilippo] also participated in this documentary.

The film was screened for the first time at the 2011 MPS Congress in Geneva in December 2011, and is available for online viewing.

Source : Sanfilippo Foundation Switzerland

The 6th European Conference on Rare Diseases & Orphan Products - 23 to 25 May 2012 - Brussels, Belgium

Each year, this conference provides the opportunity for all actors involved in the fight against rare diseases (patients, families, healthcare professionals, industry, researchers, etc..) to meet and exchange information and ideas. The 2012 edition will focus on the latest scientific advances in treatments and innovations in healthcare, social care and support.

On Wednesday 23 May 23, the General Assembly of EURORDIS will be organized for its members followed by a series of forums and workshops for capacity building. These sessions are designed to empower patients and patients’ advocates and encourage learning from each other’s experience.

Alliance SANFILIPPO will be there: Karen Aiach will participate to the session "New trends in collaborations between industry, academia and patient organizations" on Wednesday 23th May, 5:00 pm.

Programme and registration