Funded project

Genetic therapy for children with Sanfilippo syndrome

Barcelona - Spain

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.

Funded thanks to:
  • Donors
  • Total raised
    100%raised
    • Me quedo uno clients 2.500€
  • Direct beneficiaries 12

    Those people who have naturally benefited from the project's interventions.

  • Indirect beneficiaries 60

    Those identifiable people who will potentially recieve an effect from the project's activities.

Sanfilipo Barcelona

Budget

  • Others 2.500€
  • Total 2.500€
2.500€

Description

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.

Project objectives

- 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.

Activities

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.

Who will benefit?

12 Spanish children are affected by Sanfilippo syndrome and their families.

Also the 250 families in the world who suffer from this situation.

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