Genetic therapy for children with Sanfilippo syndromeBarcelona - Spagna
Sanfilippo syndrome (MPS III) is a degenerative and fatal genetic disease. Children diagnosed with MpsIII have a life expectancy between 15 and 20 years. One in every 70,000 births results on Sanfilippo syndrome.
Totale finanziato €100%finanziato
Me quedo uno clienti 2.500€
Quelle persone che in maniera naturale hanno tratto beneficio dalle azioni portate avanti dal progetto
Quelle persone identificabili che ricevono un effetto potenziale dalle azioni portate avanti dal progetto.
- Altri 2.500€
- Totale 2.500€
Sanfilippo syndrome is caused by an absence or malfunctioning of four specific enzymes essential for breaking down molecules called glycosaminoglycans (GAG).
People eliminate these substances in the urine, but they accumulate these substances in their body, especially in the brain. The substances are becoming toxic and gradually damage all cells till the death. This causes multiple effects, severe motor and mental deterioration, and premature death.
The only hope of life for children affected by Sanfilippo C, is called gene therapy, led by Drs. Bryan Bigger, University of Manchester and Dr. Alexey Pshezhetsky Montreal.
Gene therapy is largely based on direct introduction of a vector into the brain. Today it has been demonstrated the effectiveness of this therapy in the animal model (mice) improving their behavior and neuropathology.
Chi ne trarrà beneficio?
12 Spanish children are affected by Sanfilippo syndrome and their families.
Also the 250 families in the world who suffer from this situation.
Obiettivi del progetto
- A clinical trial of human gene therapy (children under 5 years).
- Demonstration of efficiency, longevity testing long-term toxicity.
- Creating HXXXXX enzyme in large quantities.